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K.J. Lee’ s Essential Otolaryngology
Notice Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge, changes in treatment and drug therapy are required. T e authors and the publisher o this work have checked with sources believed to be reliable in their e orts to provide in orma- tion that is complete and generally in accord with the standards accepted at the time o publica- tion; however, in view o the possibility o human error or changes in medical sciences, neither the authors nor the publisher nor any other party who has been involved in the preparation or publication o this work warrants that the in ormation contained herein is in every respect ac- curate or complete, and they disclaim all responsibility or any errors or omissions or or the results obtained rom use o the in ormation contained in this work. Readers are encouraged to con rm the in ormation contained herein with other sources. For example and in particular, readers are advised to check the product in ormation sheet included in the package o each drug they plan to administer to be certain that the in ormation contained in this work is accurate and that changes have not been made in the recommended dose or in the contraindications or administration. T is recommendation is o particular importance in connection with new or in requently used drugs.
K.J. Lee’ s Essential Otolaryngology Head & Neck Surgery Eleventh Edition Edited by YVONNECHAN, MD, FRCSC, MSc, HBSc Continuing Education & Pro essional Development Director, Department o Otolaryngology—Head & Neck Surgery Assistant Pro essor, University o oronto oronto, Ontario, Canada JOHN C. GODDARD, MD Otology, Neurotology, and Skull Base Surgery Department o Otolaryngology—Head & Neck Surgery Northwest Permanente, PC Portland, Oregon New Y ork Chicago San Francisco Athens London Madrid Mexico City Milan New Delhi Singapore Sydney oronto
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Part 1 General Otolaryngology 1 Chapter 1 Syndromes and Eponyms 1 K.J. Lee Chapter 2 Obstructive Sleep Apnea 53 Brian W. Rotenberg Chapter 3 Laser and Radio requency Surgery 68 Natasha Pollak Chapter 4 Anesthesia or Head and Neck Surgery 75 Jessica Feinleib, K.J. Lee Chapter 5 Surgical Hemostasis and Clotting Mechanisms 103 John E. Godwin Chapter 6 Related Neurology and Neurosurgery 118 Daniel Prevedello, Ali O. Jamshidi Chapter 7 T e Chest or EN 137 Allan Rodrigues, K.J. Lee Chapter 8 Nutrition, Fluid, and Electrolytes 158 Marion Couch, Heather Herrington Chapter 9 Antimicrobial T erapy in Otolaryngology—Head and Neck Surgery 169 Subinoy Das Chapter 10 Pharmacology and T erapeutics 177 Joseph P. Roche, Carlos S. Ebert v Contents Contributors xi Pre ace xix Acknowledgments xx
Chapter 11 HIV 189 Jef Y eung, Y vonne Chan Chapter 12 Granulomatous Diseases o the Head and Neck 202 Janet Chung, Amandeep S. Grewal, Y vonne Chan Part 2 Otology/Neurotology/Audiology 218 Chapter 13 Anatomy o the Ear 218 K.J. Lee, John C. Goddard Chapter 14 Audiology 241 Kathleen C. M. Campbell, James E. Peck Chapter 15 Electrical Response Audiometry 281 Paige M. Pastalove Chapter 16 Vestibular and Balance Disorders 295 Caroline Falls, Philip Lai, David Pothier, John Rutka Chapter 17 Congenital Hearing Loss 314 Seilesh Babu, K.J. Lee Chapter 18 innitus 340 John C. Goddard, T eodore R. McRackan Chapter 19 Hearing Rehabilitation: Surgical and Nonsurgical 345 Natasha Pollak Chapter 20 Cochlear Implants 355 Richard . Miyamoto Chapter 21 Facial Nerve Paralysis 363 Elizabeth H. oh, K.J. Lee Chapter 22 In ections o the emporal Bone 390 Bruce J. Gantz Chapter 23 Nonin ectious Disorders o the Ear 424 John C. Goddard, T eodore R. McRackan Chapter 24 umors o the emporal Bone 435 Bruce J. Gantz vi Contents
Part 3 Rhinology 450 Chapter 25 Nasal Function and the Evaluation o aste/Smell 450 Jill Mazza, Andrew P. Lane Chapter 26 Paranasal Sinuses: Embryology, Anatomy, Endoscopic Diagnosis, and reatment 460 David W. Kennedy, John M. Lee Chapter 27 T e Nose: Acute and Chronic Sinusitis 491 Y vonne Chan Chapter 28 umors o the Paranasal Sinuses 510 Adam Zanation Chapter 29 Endoscopic Skull Base Surgery 521 Angela M. Donaldson, Vijay K. Anand Part 4 Head and Neck 543 Chapter 30 Salivary Gland Diseases 543 Wojciech Mydlarz, Patrick Ha, David W. Eisele Chapter 31 T e Oral Cavity, Pharynx, and Esophagus 564 David Eibling Chapter 32 Neck Spaces and Fascial Planes 585 Marion Boyd Gillespie Chapter 33 T yroid and Parathyroid Glands 606 Joseph Scharp , Gregory W. Randolph Chapter 34 Cysts and umors o the Jaw 641 Kris R. Jatana, Courtney Jatana Chapter 35 Carotid Body umors and Vascular Anomalies 656 James Netterville Chapter 36 NM Classi cation in Otolaryngology—Head and Neck Surgery 666 T omas G. akoudes Chapter 37 Malignant Melanoma o the Head and Neck 674 Randal S. Weber, T omas J. Ow Contents vii
Chapter 38 umors o the Larynx 688 Benjamin L. Hodnett, Shilpa Renukuntla, Jonas . Johnson Chapter 39 Carcinoma o the Oral Cavity, Pharynx, and Esophagus 701 Debra Gonzalez, K. T omas Robbins Chapter 40 T e Role o Chemotherapy or Head and Neck Cancer 727 Krishna A. Rao Chapter 41 Radiation T erapy or Head and Neck Cancer 733 Zain Husain Chapter 42 umor Biology o Head and Neck Cancer 740 Natalia Issaeva, Wendell Y arbrough Chapter 43 Skull Base Surgery 746 Victoria Banuchi, Dennis H. Kraus Part 5 Laryngology 769 Chapter 44 T e Larynx 769 Gayle E. Woodson, CraigBerzo sky Part 6 Pediatrics 808 Chapter 45 Embryology o Cle s and Pouches 808 K.J. Lee, John C. Goddard Chapter 46 Cle Lip and Palate 826 Steven Goudy, David J. Crockett Chapter 47 Pediatric Otolaryngology: Head and Neck Surgery 846 Evan J. Propst, Robin . Cotton Part 7 Facial Plastic &Reconstructive Surgery 913 Chapter 48 Facial Plastic Surgery 913 Jamil Asaria, Susan L. an, Peter A. Adamson Chapter 49 Reconstructive Head and Neck Surgery 940 Oneida Arosarena viii Contents
Chapter 50 Craniomaxillo acial rauma 960 Robert M. Kellman Chapter 51 Orbital Fractures 974 David E. E. Holck, Dimitrios Sismanis, Christopher M. DeBacker Chapter 52 Related Ophthalmology 987 K.J. Lee, Flora Levin Part 8 Allergy 993 Chapter 53 Immunology and Allergy 993 Jack H. Krouse Part 9 Review 1044 Chapter 54 Highlights and Pearls 1044 Pardis Javadi, Y vonne Chan, Subinoy Das, K.J. Lee, Ryan Scannell Index 1155 Contents ix
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Peter A. Adamson, MD, FRCSC, FACS [48] Pro essor and Head Division o Facial Plastic and Reconstructive Surgery Department o Otolaryngology—Head &Neck Surgery Sta Surgeon oronto General Hospital University Health Network Ontario, Canada Vijay K. Anand, MD, FACS [29] Clinical Pro essor Department o Otolaryngology—Head &Neck Surgery Weill Cornell Medical College Attending Surgeon New Y ork Presbyterian Hospital Weill Cornell Medical Center Consultant Surgeon Department o Surgery Memorial Sloan Kettering Cancer Center New Y ork, New Y ork Oneida Arosarena, MD [49] Associate Pro essor Head and Neck Institute emple University Philadelphia, Pennsylvania Jamil Asaria, MD, FRCSC [48] Director FACE Cosmetic Surgery Clinical Lecturer Division o Facial Plastic and Reconstructive Surgery Department o Otolaryngology—Head &Neck Surgery Universityo oronto Ontario, Canada Seilesh Babu, MD [17] Neurotologist/Skull Base Surgeon Chie Financial O cer Michigan Ear Institute Farmington Hills, Michigan Clinical Assistant Pro essor Department o Otolaryngology Wayne State University School o Medicine Detroit, Michigan Clinical Assistant Pro essor Department o Surgery William Beaumont Oakland University School o Medicine Rochester, Michigan Victoria Banuchi, MD, MPH [43] Assistant Pro essor Division o Otolaryngology Weill Cornell Medical Center New Y ork, New Y ork Craig Berzo sky, MD [44] Assistant Pro essor Otolaryngology New Y ork Medical College Laryngologist EN Faculty Practice New Y ork, New Y ork Kathleen C. M. Campbell, PhD [14] Distinguished Scholar and Pro essor Southern Illinois University School o Medicine Spring eld, Illinois xi Contributors
Yvonne Chan, MD, FRCSC, MSc, HBSc[11, 12, 27, 54] Continuing Education & Pro essional Development Director Department o Otolaryngology—Head & Neck Surgery Assistant Pro essor University o oronto Ontario, Canada Janet Chung, BSc, MD, FRCSC [12] Lecturer Department o Otolaryngology—Head & Neck Surgery University o oronto Ontario, Canada Robin . Cotton, MD [47] Director, Aerodigestive and Esophageal Center Cincinnati Children’ s Hospital Pro essor University o Cincinnati College o Medicine Cincinnati, Ohio Marion Couch, MD, PhD, MBA, FACS [8] Pro essor and Chair Department o Otolaryngology—Head & Neck Surgery Physician Executive IU School o Medicine Indianapolis, Indiana David J. Crockett, MD [46] Pediatric Otolaryngology—Head & Neck Surgery Arizona Otolaryngology Consultants Section Vice Chie o Otolaryngology Phoenix Children’ s Hospital Phoenix, Arizona Subinoy Das, MD, FACS [9, 54] Medical Director USInstitute or Advanced Sinus Care and Research Columbus, Ohio Christopher M. DeBacker, MD, FACS [51] Assistant Clinical Pro essor Department o Ophthalmology University o exas Health Science Center at San Antonio San Antonio, exas Angela M. Donaldson, MD [29] Department o Otolaryngology—Head &Neck Surgery Atlanta Institute or EN Atlanta, Georgia Carlos S. Ebert, Jr. MD, MPH [10] Associate Pro essor Department o Otolaryngology—Head &Neck Surgery University o North Carolina Chapel Hill, North Carolina David Eibling, MD, FACS [31] Pro essor o Otolaryngology Department o Otolaryngology—Head &Neck Surgery University o Pittsburgh School o Medicine Pittsburgh, Pennsylvania David W. Eisele, MD, FACS [30] Andelot Pro essor and Director Department o Otolaryngology—Head & Neck Surgery Johns Hopkins University School o Medicine Baltimore, Maryland Carolyn Falls, MClSc, Reg. CASLPO [16] Manager, Centre or Advanced Hearing and Balance Manager, Munk Hearing Centre Lecturer, University o oronto, Faculty o Medicine oronto General Hospital, University Health Network Ontario, Canada Jessica Feinleib MD, PhD [4] Assistant Pro essor Department o Anesthesiology Y ale School o Medicine West Haven, Connecticut xii Contributors
Bruce J. Gantz, MD [22, 24] Pro essor and Head University o Iowa Department o Otolaryngology—Head &Neck Surgery University o Iowa Hospitals and Clinics Iowa City, Iowa Marion Boyd Gillespie, MD, Msc [32] Pro essor Department o Otolaryngology—Head & Neck Surgery Medical University o South Carolina Charleston, South Carolina John C. Goddard, MD [13, 18, 23, 45] Otology, Neurotology, and Skull Base Surgery Department o Otolaryngology—Head &Neck Surgery Northwest Permanente, PC Portland, Oregon John E. Godwin, MD, MS [5] Physician Program Leader, Hematologic Malignancies Providence Cancer Center Oncology & Hematology Care Clinic - Eastside Robert W. Franz Cancer Research Center in the Earle A Chiles Research Institute Portland, Oregon Debra Gonzalez, MD [39] Assistant Pro essor Department o Otolaryngology Washington University School o Medicine St. Louis, Missouri Steven Goudy, MD [46] Director o Pediatric Otolaryngology Emory University School o Medicine Atlanta, Georgia Amandeep S. Grewal, MD, FRCSC [12] Lecturer Department o Otolaryngology—Head &Neck Surgery University o oronto Ontario, Canada Patrick Ha, MD, FACS [30] Associate Pro essor Johns Hopkins Department o Otolaryngology Johns Hopkins Head and Neck Surgery Baltimore, Maryland Heather Herrington, MD [8] Assistant Pro essor o Otolaryngology Head & Neck Surgery University o Vermont Burlington, Vermont Benjamin L. Hodnett [38] Fellow in Head and Neck Oncology & Microvascular Reconstruction Department o Otorhinolaryngology—Head & Neck Surgery University o Pennsylvania Philadelphia, Pennsylvania David E. E. Holck, MD, FACS [51] EyePlas X Associate Clinical Pro essor Department o Surgery T e University o exas at San Antonio, Health Sciences Center San Antonio, exas Zain Husain, MD [41] Assistant Pro essor Department o T erapeutic Radiology Y ale University School o Medicine West Haven, Connecticut Natalia Issaeva, PhD [42] Department o Surgery, Otolaryngology Y ale School o Medicine Y ale Cancer Center New Haven, Connecticut Ali O. Jamshidi, MD [6] Department o Neurological Surgery T e Ohio State University Wexner Columbus, Ohio Contributors xiii
Courtney A. Jatana, DDS [34] Assistant Pro essor Division o Oral and Maxillo acial Surgery and Anesthesiology T e Ohio State University College o Dentistry Columbus, Ohio Kris R. Jatana, MD, FAAP, FACS [34] Associate Pro essor-Clinical Department o Otolaryngology—Head & Neck Surgery T e Ohio State University and Nationwide Children’ s Hospital Columbus, Ohio Pardis Javadi, MD [54] Assistant Pro essor o Otolaryngology, Head & Neck Surgery Southern Illinois University Spring eld, Illinois Jonas . Johnson, MD, FACS [38] Distinguished Service Pro essor o Otolaryngology T e Dr. Eugene N. Myers Pro essor and Chairman o Otolaryngology University o Pittsburgh School o Medicine Pittsburgh, Pennsylvania Robert M. Kellman, MD [50] Pro essor and Chair Department o Otolaryngology and Communication Sciences SUNYUpstate Medical University Syracuse, New Y ork David W. Kennedy, MD [26] Rhinology Pro essor Perelman School o Medicine University o Pennsylvania Philadelphia, Pennsylvania Dennis H. Kraus, MD, FACS [43] Director, New Y ork Head & Neck Institute Center or Head & Neck Oncology NS-LIJ Cancer Institute Pro essor o Otolaryngology Ho stra North Shore-LIJ School o Medicine Hempstead, New Y ork Jack H. Krouse, MD, PhD, MBA [53] Pro essor and Chairman Department o Otolaryngology—Head &Neck Surgery Director, emple Head and Neck Institute Associate Dean or Graduate Medical Education emple University School o Medicine Philadelphia, Pennsylvania Andrew P. Lane, MD [25] Pro essor Department o Otolaryngology—Head &Neck Surgery Director Division o Rhinology and Sinus Surgery Johns Hopkins School o Medicine Baltimore, Maryland John M. Lee, MD, FRCSC, MSc [26] Assistant Pro essor Department o Otolaryngology—Head & Neck Surgery University o oronto St. Michael’ s Hospital Ontario, Canada K. J. Lee, MD, FACS [1, 4, 7, 13, 17, 21, 45, 52, 54] Associate Clinical Pro essor Y ale University School o Medicine Adjunct Associate Clinical Pro essor Ho stra University School o Medicine Emeritus Chie o Otolaryngology Hospital o St. Raphael Chie Medical and Experience O cer IQ-EQ Systems Intelligent Cloud and Advisory Group New Haven, Connecticut xiv Contributors
Flora Levin, MD, FACS [52] Clinical Assistant Pro essor Y ale School o Medicine New Haven, Connecticut Jill Mazza, MD [25] Instructor Department o Otolaryngology—Head &Neck Surgery Johns Hopkins University School o Medicine Baltimore, Maryland T eodore R. McRackan, MD [18, 23] Assistant Pro essor Otolaryngology Head & Neck Surgery Division o Neurotology Medical University o South Carolina Charleston, South Carolina Richard . Miyamoto, MD, FACS, FAAP [20] Arilla Spence DeVault Pro essor Emeritus Department o Otolaryngology—Head &Neck Surgery Indiana University School o Medicine Indianapolis, Indiana Wojciech Mydlarz, MD [30] Assistant Pro essor Department o Otolaryngology—Head &Neck Surgery Johns Hopkins University School o Medicine Baltimore, Maryland James Netterville, MD [35] Mark C. Smith Pro essor Director o Head and Neck Oncologic Services Executive Vice Chair Department o Otolaryngology Vanderbilt University Medical Center Nashville, ennessee T omas J. Ow, MD, FACS [37] Assistant Pro essor Department o Otorhinolaryngology—Head & Neck Surgery Department o Pathology Monte ore Medical Center Albert Einstein College o Medicine Bronx, New Y ork Paige M. Pastalove, AuD, CCC-A, FAAA [15] Director Division o Audiology Assistant Director emple Head and Neck Institute Instructor emple University School o Medicine Philadelphia, Pennsylvania James E. Peck, PhD [14] Associate Pro essor Emeritus Division o Audiology Department o Otolaryngology and Communicative Sciences University o Mississippi Medical Center Jackson, Mississippi Natasha Pollak, MD [19] Associate Pro essor Department o Otolaryngology—Head &Neck Surgery emple University School o Medicine Associate Director emple Head & Neck Institute Philadelphia, Pennsylvania Dr. David Pothier, MSc, MBChB, FRCS (ORL-HNS) [16] Sta Neurotologist Assistant Pro essor Department o Otolaryngology University o oronto Head and Neck Surgery oronto General Hospital University Health Network Ontario, Canada Contributors xv
Daniel Prevedello, MD [6] Associate Pro essor o Neurological Surgery Department o Neurological Surgery T e Ohio State University, Wexner Medical Center Columbus, Ohio Evan J. Propst, MD, MSc, FRCSC [47] Assistant Pro essor Department o Otolaryngology—Head & Neck Surgery Hospital or Sick Children University o oronto Ontario, Canada Gregory W. Randolph, MD, FACS, FACE[33] Director o the General and T yroid-Parathyroid Endocrine Surgical Divisions Mass Eye and Ear In rmary Member Endocrine Surgery Service Mass General Hospital Boston, Massachusetts Krishna A. Rao, MD, PhD [40] Associate Pro essor Division o Hematology/Medical Oncology Departments o Internal Medicine, Medical Microbiology, and Simmons Cancer Institute Southern Illinois University School o Medicine Spring eld, Illinois Shilpa Renukuntla, MD [38] Assistant Pro essor General Otolaryngology University o South Florida ampa, Florida K. T omas Robbins, MD, FRCSC, FACS [39] Pro essor and Executive Director Emeritus Simmons Cancer Institute at SIU Southern Illinois University School o Medicine Spring eld, Illinois Joseph P. Roche, MD [10] Neurotology Fellow Otology, Neurotology & Lateral Skull Base Surgery Department o Otolaryngology—Head & Neck Surgery T e University o Iowa Hospitals and Clinics Iowa City, Iowa Allan Rodrigues, MD [7] Attending Physician Pulmonary and Critical Care Medicine Hospital o Saint Raphael New Haven, Connecticut Dr. Brian W. Rotenberg, MD, MPH, FRCSC [2] Associate Pro essor Director o Sleep Surgery Program Sinonasal & Skull Base Surgery Dept o Otolaryngology—Head & Neck Surgery Western University, London Ontario, Canada John Rutka, MD, FRCSC [16] Pro essor o Otolaryngology—Head & Neck Surgery University o oronto Sta Otologist/Neurotologist University Health Network oronto General Hospital Ontario, Canada Ryan Scannell, MD [54] New England EN & Facial Plastic Surgery North Andover, Massachusetts Joseph Scharp , MD [33] Sta , Head and Neck Institute Cleveland Clinic Foundation Associate Pro essor o Surgery CCLCM Cleveland, Ohio xvi Contributors
Dimitrios Sismanis, MD [51] Private Practice Oculoplastic and Reconstructive Surgery Richmond, Virginia Susan L. an, BSc(Hon), MD, FRCSC [48] Facial Plastic and Reconstructive Surgery Fellow Art o Facial Surgery University o oronto Ontario, Canada T omas G. akoudes, MD [36] Clinical Instructor in Surgery Department o Surgery Division o Otolaryngology—Head & Neck Surgery Y ale University School o Medicine New Haven, Connecticut Elizabeth H. oh, MD, FACS [21] Director, Balance and Hearing Implant Center Lahey Hospital & Medical Center Burlington, Massachusetts Randal S. Weber, MD [37] Pro essor and Chairman Department o Head & Neck Surgery John Brooks Williams and Elizabeth Williams Distinguished University Chair in Cancer Medicine Pro essor o Radiation Oncology University o exas MD Anderson Cancer Center Houston, exas Gayle E. Woodson, MD, FACS [44] Pro essor Emeritus Southern Illinois University School o Medicine Spring eld, Illinois Wendell Yarbrough, MD, FACS, MMHC [42] Pro essor & Chie , Otolaryngology Y ale Co-Director, Molecular Virology Program Y ale Cancer Center Director, Head and Neck Disease Center, Smilow Cancer Hospital New Haven, Connecticut Jef Yeung, MD [11] Department o Otolaryngology—Head & Neck Surgery University o Ottawa Ottawa, Ontario Adam Zanation, MD [28] Associate Pro essor Director o Practice Development Department o Otolaryngology—Head & Neck Surgery Director o the Skull Base Surgery Fellowship Co-Director o the Advanced Rhinology and Skull Base Surgery Fellowship Division o Head & Neck Oncology Division o Rhinology/Sinus Surgery Skull Base Surgery Chapel Hill, North Carolina Contributors xvii
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Pre ace It is a privilege and great pleasure or me to introduce two excellent editors or the 11th edition o K. J. Lee’ s Essential Otolaryngology—Head and Neck Surgery, Dr. Yvonne Chan and Dr. John Goddard. T e rst edition o Essential Otolaryngology, published in 1973, was based predomi- nantly on my own notes that had helped me through my Board examination. Because o the enthusiastic reception among practicing clinicians and the universal acceptance o this book among residents in the United States and abroad, I have ound keeping this book cur- rent a most satis ying endeavor. Dr. Anthony Maniglia arranged or the 6th edition to be translated into Spanish by Drs. Blanco, Cabezas, Cobo, Duque, Reyes, and Santamaria. T e 7th edition was also translated into Spanish by Drs. Rendón, Araiza, Pastrana, Enriquez, and González. T e 8th edition was translated into urkish by Pro essor Metin Onerci and Dr. Hakan Korkmaz and translated into Chinese by Pro essor Chen and her colleagues. A previous edition was also translated into urkish by Pro essor Vecdet Kayhan, Doc. Dr. ay un Sunay, and Uz. Dr. Cetin Kaleli. It has also been translated into other languages without our knowledge. Although the original material still orms a signi cant portion o the book, Dr. Chan and Dr. Goddard have assembled a broad panel o authorities in several subspecialities to present additional in ormation, which is considered the most current in their areas o ex- pertise. Neither a complete review o otolaryngology nor a comprehensive textbook on the subject, K.J. Lee’ sEssential Otolaryngology, 11th edition, remains true to its original intent— to serve as a guide or Board preparation as well as a practical and concise re erence text ref ecting contemporary concepts in clinical otolaryngology. Senior medical students, resi- dents, and ellows; Board-eligible, Board-certi ed otolaryngologists; primary care physi- cians; and specialists in other elds will all nd this edition to be an even more use ul and indispensable resource. I thank Dr. Chan and Dr. Goddard. K. J. Lee xix
For this 11th edition, I want to thank our two editors, Dr. Yvonne Chan and Dr. John God- dard, who have done a tremendous job. Particularly, I would like to thank the one person who has been by my side even be ore the appearance o the very 1st edition o this book in 1973, my lovely and devoted wi e o 49 years, Linda. Our three sons, Ken, Lloyd, and Mark, used to help with editorial assistance, but are now busy with their respective pro essions, law, private equity, and movie production; Jeannie Grenier, my nurse or over 31 years and editorial associate, worked hard on previous editions. I thank the McGraw-Hill sta or their diligence, great work, and congeniality. I thank myparents or the gene and nurturing environment that allowed me to develop a passion or hard work, a sense or organization, and an ability to distill complex materials into simple acts. T ese are the three cornerstones that have shaped this book rom the 1st edition. I am thrilled to see these traits are also inherent in Yvonne and John. And to those newcomers at the rontiers o medical science who have contributed to this edition, I also extend mythanks or taking the time to share their own expertise and, by doing so, helping to keep this book up-to-date. K. J. Lee Acknowledgments xx
1 Chapter 1 Syndromes and Eponyms Syndromes and Diseases Adult Respiratory Distress Syndrome Adult respiratory distress syndrome (ARDS) is characterized by a delay in onset (12-24 hours) ollowing injury, shock, and/or success ul resuscitative e ort. Septic shock, extrathoracic trauma, central nervous system (CNS) pathology, at embolism, oxygen toxicity, head and acial injuries, and massive blood trans usions can lead to ARDS. It is characterized by hypoxia and pulmonary in ltrates secondary to increased pulmonary vascular permeability, microvascular hemorrhage, or both. Aide Syndrome Aide syndrome is characterized by decreased pupillary reaction and deep tendon re ex. T e etiology is unknown. Alagille Syndrome Alagille syndrome is marked by cardiovascular abnormalities, characteristic acial appearance, chronic cholestasis, growth retardation, hypogonadism, mental retardation, vertebral arch de ect, temporal bone anomalies in the cochlear aqueduct, ossicles, semicircular canals (SCCs), and subarcuate ossa. Liver transplantation is a possible treatment. Part 1 General Otolaryngology
2 Part 1: General Otolaryngology Albers-Schönberg Disease A genetic disorder also known as osteopetrosis, Albers-Schönberg disease results in progres- sive increase in the density (but also increase in weakness) o the bones in the skeletal system. Vascular nutrition to a ected bones is also decreased by this disease. Broken down into three categories, there is osteopetrosis with precocious mani estations, osteopetrosis with delayed mani estations, and pyknodysostosis. In the mandible long-term antibiotic therapy, multiple debridements, sequestrectomies, or even resection are possible treatments. Albright Syndrome Polyostotic brous dysplasia usually mani ests early in li e as multicentric lesions involving the long bones and bones o the ace and skull with scattered skin lesions similar to melanotic ca é au lait spots and precocious pubertyin emale patients. Frequently, there is an elevation o serum alkaline phosphatase as well as endocrine abnormalities. Aldrich Syndrome T rombocytopenia, eczema, and recurrent in ections occur during the rst year o li e. It is inherited through a sex-linked recessive gene. T e bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes are normal in number. Amalric Syndrome Granular macular pigment epitheliopathy ( oveal dystrophy) is associated with sensorineural hearing loss. Visual acuity is usually normal. Amalric syndrome may be a genetic disorder, or it may be the result o an intrauterine rubella in ection. Aortic Arch Syndrome See akayasu Disease. Apert Syndrome Apert syndrome is not to be con used with P ei er syndrome, which has di erent types o hand mal ormations. Ascher Syndrome Ascher syndrome is a combination o blepharochalasis, double lip, and goiter. Auriculotemporal Syndrome (Frey Syndrome) Auriculotemporal syndrome is characterized by localized ushing and sweating o the ear and cheek region in response to eating. It usually occurs a er parotidectomy. It is assumed that the parasympathetic bers o the ninth nerve innervate the sweat glands a er parotidectomy. It has been estimated that 20%o the parotidectomies in children result in this disorder. Avellis Syndrome Unilateral paralysis o the larynx and velum palati, with contralateral loss o pain and tempera- ture sensitivity in the parts below the larynx characterize Avellis syndrome. T e syndrome is caused by involvement o the nucleus ambiguus or the vagus nerve along with the cranial por- tion o the ninth nerve.
Chapter 1: Syndromes and Eponyms 3 Babinski-Nageotte Syndrome Babinski-Nageotte syndrome is caused by multiple or scattered lesions, chie y in the distribu- tion o the vertebral artery. Ipsilateral paralysis o the so palate, larynx, pharynx, and sometimes tongue occurs. T ere is also ipsilateral loss o taste on the posterior third o the tongue, loss o pain and temperature sensation around the ace, and cerebellar asynergia. Horner syndrome with con- tralateral spastic hemiplegia and loss o proprioceptive and tactile sensation may also be present. Baelz Syndrome Painless papules at the openings o the ducts o the mucous glands o the lips with ree exudation o mucus are characteristic. Congenital and amilial orms are precancerous. Acquired orms are benign and caused by irritating substances. Bannwarth Syndrome (Facial Palsy in Lymphocytic Meningoradiculitis) A relatively benign orm o acute unilateral or bilateral acial palsy that is associated with lym- phocytic reactions and an increased protein level in the cerebrospinal uid (CSF) with mini- mal, i any, meningeal symptoms is known as Bannwarth syndrome. Neuralgic or radicular pain without acial palsy and unilateral or bilateral acial palsy o acute onset are symptoms o this syndrome. A virus has been suggested as a possible etiology. Males are more o en a ected than emales, with the greatest number o cases occurring in the months o August and September. Barany Syndrome Barany syndrome is a combination o unilateral headache in the back o the head, periodic ipsilateral dea ness (alternating with periods o una ected hearing), vertigo, and tinnitus. T e syndrome complex may be corrected by induced nystagmus. Barclay-Baron Disease Vallecular dysphagia is present. Barre-Lieou Syndrome Occipital headache, vertigo, tinnitus, vasomotor disorders, and acial spasm due to irritation o the sympathetic plexus around the vertebral artery in rheumatic disorders o the cervical spine are characteristic. It is also known as cervical migraine. Barrett Syndrome Barrett syndrome is characterized by esophagitis due to change in the epithelium o the esophagus. Barsony-Polgar Syndrome A di use esophageal spasm, caused by disruption o the peristaltic waves by an irregular con- traction resulting in dysphagia and regurgitation, is evidence o this syndrome. It most com- monly a ects excitable elderly persons. Basal Cell Nevoid Syndrome T is amilial syndrome, non–sex-linked and autosomal dominant with high penetrance and variable expressivity, mani ests early in li e. It appears as multiple nevoid basal cell epitheliomas o the skin, cysts o the jaw, abnormal ribs and metacarpal bones, rontal bossing, and dorsal scoliosis. Endocrine abnormalities have been reported and it has been associated with medul- loblastoma. T e cysts in the jaw, present only in the maxilla and mandible, are destructive to the bone. T e basal cell epitheliomas are excised as necessary, and the cysts in the jaw rarely recur a er complete enucleation.
4 Part 1: General Otolaryngology Bay ord-Autenrieth Dysphagia (Arkin Disease) Dysphagia lusoria is said to be secondary to esophageal compression rom an aberrant right subclavian artery. Beckwith Syndrome T is is a congenital disorder characterized by macroglossia, omphalocele, hypoglycemia, pan- creatic hyperplasia, noncystic renal hyperplasia, and cytomegaly o the etal adrenal cortex. Behçet Syndrome O unknown etiology, this disease runs a protracted course with periods o relapse and remis- sion. It mani ests as indolent ulcers o the mucous membrane and skin, stomatitis, as well as ano- genital ulceration, iritis, and conjunctivitis. No de nitive cure is known, though steroids help. Besnier-Boeck-Schaumann Syndrome Sarcoidosis is present. Bloom Syndrome An autosomal recessive growth disorder, Bloom syndrome is associated with chromosomal breaks and rearrangements.It isalso associated with an unusuallyhigh rateo cancer at an earlyage.Asso- ciated with acial erythema, growth retardation, immunode ciency, in ertility, and sun sensitivity, diagnosis is con rmed by chromosome analysis. Anomalous numbers o digits or teeth, asym- metric legs, heart mal ormation, hypopigmented spots in blacks, protruding ears, sacral dimple, simian line, and urethral or meatal narrowing are less common characteristics. For head and neck tumor patients, there is an increased chance o secondary and primary tumors. Bogorad Syndrome Bogorad syndrome is also known as the syndrome o crocodile tears, characterized by residual acial paralysis with pro use lacrimation during eating. It is caused by a misdirection o regener- ating autonomic bers to the lacrimal gland instead o to the salivary gland. Bonnet Syndrome Sudden trigeminal neuralgia accompanied by Horner syndrome and vasomotor disorders in the area supplied by the trigeminal nerve are mani estations o this syndrome. Bonnier Syndrome Bonnier syndrome is caused by a lesion o Deiters nucleus and its connection. Its symptoms include ocular disturbances (eg, paralysis o accommodation, nystagmus, diplopia), dea ness, nausea, thirst, and anorexia, as well as other symptoms re erable to involvement o the vagal centers, cranial nerves VIII, IX, X, and XI, and the lateral vestibular nucleus. It can simulate Ménière disease. Bourneville Syndrome Bourneville syndrome is a amilial disorder whose symptoms include polyps o the skin, harelip, moles, spina bi da, and microcephaly. Bowen Disease Bowen disease is a precancerous dermatosis characterized by the development o pinkish or brownish papules covered with a thickened horny layer. Histologically, it shows hyperchromatic acanthotic cells with multinucleated giant cells. Mitoses are requently observed.
Chapter 1: Syndromes and Eponyms 5 Branchio-Oto-Renal Syndrome Branchio-Oto-Renal syndrome is an autosomal dominant disorder characterized by anoma- lies o the external, middle, and inner ear in association with preauricular tissues, branchial cle anomalies, and varying degrees o renal dysplasia, including aplasia. Many o the ollowing symptoms (but not necessarily all) are present: A. Conductive or mixed hearing loss B. Cup-shaped, anteverted pinnae with bilateral preauricular sinuses C. Bilateral branchial cle stulas or sinuses D. Renal dysplasia T is syndrome is among a group o syndromes characterized byde ormities associated with the rst and second branchial complexes. T e precise incidence o the disorder is unknown. Briquet Syndrome Briquet syndrome is characterized by a shortness o breath and aphonia due to hysteric paralysis o the diaphragm. Brissaud-Marie Syndrome Unilateral spasm o the tongue and lips o a hysteric nature are characteristic. Brown Syndrome Brown syndrome is a congenital or acquired abnormality o the superior oblique muscle tendon characterized by vertical diplopia and the inability to elevate the eye above midline or medial gaze. T is syndrome is o two types: true and simulated. rue Brown syndrome is always con- genital. Simulated Brown syndrome is either congenital or acquired. T e congenital simulated type may be caused by thickening o an area in the posterior tendon or by the rm attachment o the posterior sheath to the superior oblique tendon. T e acquired simulated type may be caused by in ammation extending rom the adjacent ethmoid cells to the posterior sheath and tendon, an orbital oor racture, rontal ethmoidal racture, crush racture o nasal bones, sinusitis, ron- tal sinus surgery, or surgical tucking o the superior oblique tendon. Brun Syndrome Vertigo, headache, vomiting, and visual disturbances due to an obstruction o CSF ow dur- ing positional changes o the head are seen. T e main causes o this syndrome include cysts and cysticercosis o the ourth ventricle as well as tumors o the midline cerebellum and third ventricle. Burckhardt Dermatitis Burckhardt dermatitis appears as an eruption o the external ear. It consists o red papules and vesicles that appear a er exposure to sunlight. T e rash usually resolves spontaneously. Ca ey Disease (In antile Cortical Hyperostosis) O amilial tendency, its onset is usuallyduring the rst year o li e. It is characterized byhyperir- ritability, ever, and hard nonpitting edema that overlie the cortical hyperostosis. Pathologically, it involves the loss o periosteum with acute in ammatory involvement o the intratrabecular bone and the overlying so tissue. reatment is supportive, consisting o steroids and antibiotics. T e prognosis is good. T e mandible is the most requently involved site.
6 Part 1: General Otolaryngology Caisson Disease T issymptom complexoccursin men and women who workin high air pressuresand arereturned too suddenly to normal atmospheric pressure. Similar symptoms may occur in iers when they suddenly ascend to high altitudes unprotected by counterpressure. It results rom the escape rom solution in the body uids o bubbles (mainly nitrogen) originally absorbed at higher pressure. Symptoms include headache; pain in the epigastrium, sinuses, and tooth sockets; itchy skin; ver- tigo; dyspnea; coughing; nausea; vomiting; and sometimes paralysis. Peripheral circulatory col- lapse may be present. Nitrogen bubbles have been ound in the white matter o the spinal cord. It also can injure the inner ear through necrosis o the organ o Corti. T ere is a question o rupture o the round window membrane; hemotympanum and eustachian tube obstruction may occur. Camptomelic Syndrome T e name is derived rom a Greek word meaning curvature of extremities. T e syndrome is characterized by dwar sm, cranio acial anomalies, and bowing o the tibia and emur, with mal- ormation o other bones. T e patient has cutaneous dimpling overlying the tibial bend. Respira- tory distress is common, and the patient has an early demise in the rst ew months o li e. In the otolaryngologic area, the patient exhibits a prominent orehead, at acies with a broad nasal bridge and low-set ears, cle palate, mandibular hypoplasia, and tracheobronchial malacia that contributes to the respiratory distress and neonatal death. Histologically, two temporal bone observations showed de ective endochondral ossi cation with no cartilage cells in the endo- chondral layer o the otic capsule. T e cochlea was shortened and attened, presenting a scalar communis. T e vestibule and the SCC were de ormed by bone invasion. T is syndrome is o en o unknown etiology, although some believe it is autosomal reces- sive. Others believe it may be due to an exogenous cause. T is syndrome is not to be con used with Pierre Robin syndrome, which presents with very similar clinical eatures. Cannon Nevus T is is an autosomal dominant disorder characterized by spongy white lesions o the oral and nasal mucosa. T e lesions are asymptomatic and may be ound rom the newborn period with increasing severity until adolescence. T e histologic picture is that o keratosis, acanthosis, and parakeratosis. Carcinoid Syndrome T e symptoms include episodic ushing, diarrhea, and ascites. T e tumor secretes serotonin. reatment is wide excision. T e tumor may give a positive dopa reaction. Carotid Sinus Syndrome (Charcot-Weiss-Barber Syndrome) When the carotid sinus is abnormallysensitive, slight pressure on it causes a marked all in blood pressure due to vasodilation and cardiac slowing. Symptoms include syncope, convulsions, and heart block. Castleman Disease Castleman disease was rst described by Castelman et al in 1954. It is a benign lymphoepithelial disease that is most o en mistaken or lymphoma. It is also known as localized nodal hyperpla- sia, angiomatous lymph node hyperplasia, lymphoid hamartoma, and giant lymph nodal hyper- plasia. Symptoms include tracheobronchial compression, such as cough, dyspnea, hemoptysis, or dysphagia. Masses in the neck are also not uncommon. T ere are two histologic types: the hyaline vascular type and the plasma cell type. Follicles in the hyaline vascular type are traversed
Chapter 1: Syndromes and Eponyms 7 by radially oriented capillaries with plump endothelial cells and collagenous hyalinization sur- rounding the vessels. T e ollicles in the plasma cell type are normal in size without capillary proli eration or hyalinization. Intermediate orms exist but are rare. reatment entails complete excision o the mass. Etiology is unknown. Cavernous Sinus Syndrome T e cavernous sinus receives drainage rom the upper lip, nose, sinuses, nasopharynx, pharynx, and orbits. It drains into the in erior petrosal sinus, which in turn drains into the internal jugular vein. T e cavernous sinus syndrome is caused by thrombosis o the cavernous intracranial sinus, 80% o which is atal. T e symptoms include orbital pain (V1 ) with venous congestion o the retina, lids, and conjunctiva. T e eyes are proptosed with exophthalmos. T e patient has photo- phobia and involvement o nerves II, III, IV, and V1 . T e treatment o choice is anticoagulation and antibiotics. T e most common cause o cavernous sinus thrombosis is ethmoiditis. T e oph- thalmic vein and artery are involved as well. (T e nerves and veins are lateral to the cavernous sinus, and the internal carotid artery is medial to it.) Cestan-Chenais Syndrome Cestan-Chenais syndrome is caused by occlusion o the vertebral artery below the point o ori- gin o the posteroin erior cerebellar artery. T ere is paralysis o the so palate, pharynx, and lar- ynx. Ipsilateral cerebellar asynergia and Horner syndrome are also present. T ere is contralateral hemiplegia and diminished proprioception and tactile sensation. Champion-Cregah-Klein Syndrome T is is a amilial syndrome consisting o popliteal webbing, cle lip, cle palate, lower lip stula, syndactyly, onychodysplasia, and pes equinovarus. Chapple Syndrome T is disorder is seen in the newborn with unilateral acial weakness or paralysis in conjunction with comparable weakness or paralysis o the contralateral vocal cord, the muscles o degluti- tion, or both. T e disorder is secondary to lateral exion o the head in utero, which compresses the thyroid cartilage against the hyoid or cricoid cartilages or both, thereby injuring the recur- rent or superior laryngeal nerve, or both. Charcot-Marie- ooth Disease T is is a hereditary and degenerative disease that includes the olivopontocerebellar, cerebellopa- renchymal, and spinocerebellar disorders and the neuropathies. T is disease is characterized by chronic degeneration o the peripheral nerves and roots; and distal muscle atrophy in eet, legs, and hands. Deep tendon re exes are usually nil. It is also associated with hereditary cerebellar ataxia eatures, optic atrophy, and other cranial involvement. Some suggest that this disease is linked to auditory dys unction and that it is also linked to other CNSdys unctions. T is disease can be progressive, and it can also spontaneously arrest. CHARGESyndrome CHARGE syndrome (Coloboma o the eye, Heart de ects, Atresia o the choanae, Retardation o growth and development, Genital and/or urinaryabnormalities and Ear abnormalities and dea - ness) is a genetic pattern o birth de ects which occur one in 10,000 births worldwide, without any amily history. It involves heart de ects, breathing and swallowing di culties, hearing loss, vision loss, and balance problems.
8 Part 1: General Otolaryngology Major Features o CHARGESyndrome (Very Common in CHARGEand Relatively Rare in Other Conditions) Feature Includes Frequency (%) Coloboma o the eye Coloboma (sort o like a cle ) o the iris, retina, choroid, macula, or disc (not the eyelid); microphthalmos (small eye) or anophthal- mos (missing eye): Causes vision loss 80-90 Choanal atresia or stenosis T ey can be stenosed or atretic. It can be unilateral or bilateral, bony, or membranous. 50-60 Cranial nerve abnormality I—Missing or decreased sense o smell 90-100 IX/X—Swallowing di culties, aspiration 70-90 VII—Facial palsy (one side or both) 40 CHARGE outer ear Short, wide ear with little or no lobe, “snipped o ” helix, prominent antihelix which is discontinuous with tragus, triangular concha, decreased cartilage ( oppy), o en stick out, usually asymmetric > 50 CHARGE middle ear Mal ormed bones o the ossicles: Conductive hearingloss Common CHARGE inner ear Mondini de ect; small or absent semicircular canals: Balance prob- lems and sensorineural loss 90 Minor Characteristics o CHARGE:Signi cant, But More Di cult to Diagnose or Less Speci c to CHARGE Feature Includes Frequency (%) Heart de ects Can be any type, but many are complex, such as tetralogy o Fallot 75 Cle lip ± cle palate Cle lip with or without cle palate, cle palate, submucous cle palate 20 E stula Esophageal atresia, tracheoesophageal stula ( EF), H-shaped EF 15-20 Kidney abnormalities Small kidney, missing kidney, misplaced kidney, re ux 40 Genital abnormalities Males: small penis, undescended testes Females: small labia, small or missing uterus Both: lack o puberty without hormone intervention 50 25 90 Growth de ciency Growth hormone de ciency Other short stature 15 70 ypical CHARGE ace Square ace with broad prominent orehead, arched eyebrows, large eyes, occasional ptosis, prominent nasal bridge with square root, thick nostrils, prominent nasal columella, at mid ace, small mouth, occasional small chin, larger chin with age. Facial asym- metry even without acial palsy Palm crease Hockey-stick palmar crease 50 CHARGE behavior Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals > 50
Chapter 1: Syndromes and Eponyms 9 Chédiak-Higashi Syndrome Chédiak-Higashi syndrome is the result o an autosomal recessive trait. It is characterized by albinism, photophobia, nystagmus, hepatosplenomegaly, anomalous cellular granules, and development o lymphoma. T ese patients usually die during childhood o ulminant in ections. Cle Lip Palate and Congenital Lip Fistulas T is syndrome is transmitted in an autosomal dominant manner with 80%penetrance;it occurs in 1 per 100,000 live births. Usually bilateral, symmetrically located depressions are noted on the vermilion portion o the lower lip and communicate with the underlying minor salivary glands. T e lip pits may be an isolated nding (33%) or be ound with cle lip palate (67% o cases). Associated anomalies o the extremities may include talipes equinovarus, syndactyly, and pop- liteal pterygia. Congenital lip pits have also been seen in association with the oral- acial-digital syndrome. Cockayne Syndrome Cockayne syndrome is autosomal recessive, progressive bilateral sensorineural hearing loss, associated with dwar sm, acial disharmony, microcephaly, mental de ciency, retinitis pigmen- tosa, optic atrophy, intracranial calci cation, and multiple dental caries. Patients succumb to respiratory or genitourinary in ection in the teens or twenties. Cogan Syndrome Nonsyphilitic interstitial keratitis and vestibuloauditory symptoms are characteristics o Cogan syndrome. Interstitial keratitis gives rise to rapid visual loss. Symptoms include episodic severe vertigo accompanied by tinnitus, spontaneous nystagmus, ataxia, and progressive sensorineural hearing loss. T ere are remissions and exacerbations. It is believed to be related to periarteritis nodosa. Eosinophilia has been reported in this entity. Pathologically, it is a degeneration o the vestibular and spiral ganglia with edema o the membranous cochlea, SCCs, and in ammation o the spiral ligament. reatment with steroids has been advocated. Cyclophosphamide and azathioprine have been used in addition to prednisone (40 mg daily). T is syndrome is not to be con used with Ménière disease despite vertiginous symp- toms and uctuating hearing loss. Vogt-Koyanagi-Harada syndrome is also similar but involves alopecia, poliosis, and exudative uveitis. Syphilis is also con used with this syndrome, but in syphilis, the interstitial keratitis is old and usually does not demonstrate active in ammatory changes. Syphilitic involvement o the cornea is o en centrally located. Follow-up treatment o patients must be thorough in order to detect more extensive involvement, such as systemic vasculitis or aortitis. Collet-Sicard Syndrome T e 9th, 10th, and 11th nerves are involved with normal sympathetic nerves. T e etiologyis usu- ally a meningioma or other lesion involving the nerves in the posterior cranial ossa. Conradi-Hünermann Syndrome T e most common variant o chondrodysplasia punctata; this syndrome is characterized by punctate epiphyseal calci cations. Clinical eatures include saddle nose de ormity, micromelia, rhizomelia, short stature, exion contractures, and dermatoses. T is syndrome is also known as chondrodystrophia epiphysialis punctata, stippled epiphysis disease, dysplasia epiphysialis punctata, chondroangiopathia calcarea punctata, and Conradi disease. Some cases point to spo- radic mutations and others to autosomal dominant patterns o inheritance. T e clinical eatures
10 Part 1: General Otolaryngology o this syndrome are so varied rom case to case that only a complete workup can exclude other versions o this syndrome. Costen Syndrome Costen syndrome is a temporomandibular joint ( MJ) abnormality, usually due to impaired bite and characterized by tinnitus, vertigo, and pain in the rontal, parietal, and occipital areas with a blocked eeling and pain in the ear. A er a care ul workup to rule out other abnormalities, the patient is treated with aspirin, heat, and slow exercise o the joint. An orthodontist may help the patient. T e MJ di ers rom other joints by the presence o avascular brous tissue covering the articulating sur aces with an interposed meniscus dividing the joint into upper and lower compartments. T e right and le MJs act as one unctional unit. T e condyle is made up o spongy bone with marrow and a growth center. T e condyle articulates with the glenoid ossa o the temporal bone (squamosa). T e squamotympanic ssure separates the ossa rom the tympanic bone. T e joint is a ginglymoarthrodial joint with hinge and transverse movements. T e key supporting ligament o the MJ is the temporomandibular ligament. T e boundaries o the glenoid ossa are as ollows: Anterior: Margins o the articular eminence Posterior: Squamosotympanic ssure Lateral: Zygomatic process o the temporal bone Medial: emporal spine T e MJ derives its nourishment rom the synovial membrane, which is richly vascularized and produces a mucinous-like substance. T e joint has a gliding motion between the meniscus and the temporal bone (upper compartment). It has a hinge motion between the disk and the condyle (lower compartment). It is innervated by the auriculotemporal nerve, masseter nerve, lateral pterygoid nerve, and temporal nerve. It is supplied by the super cial temporal artery and the anterior tympanic branch o the internal maxillary artery. T e lateral pterygoid muscle protracts the jaw, and the masseter, medial pterygoid, and temporalis muscles act as elevators. All these muscles are innervated by V3 . T e sphenomandibular and stylomandibular ligaments have no unction in MJ articulation. Cowden Syndrome T is is a amilial syndrome characterized by adenoid acies, hypoplasia o the mandible and maxilla, high-arched palate, hypoplasia o the so palate and uvula, microstomia, papillomatosis o the lips and pharynx, scrotal tongue, multiple thyroid adenomas, bilateral breast hypertrophy, pectus excavatum, and liver and CNSabnormalities. Creutz eldt-Jakob Disease Creutz eldt-Jakob disease is a rare spongi orm encephalopathy. Constitutional symptoms lead to mental retardation and movement disorder. Cri du Chat Syndrome Cri du Chat syndrome is a condition caused by a B group chromosome with a short arm; its symptoms are mental retardation, respiratory stridor, microcephaly, hypertelorism, midline oral cle s, and laryngomalacia with poor approximation o the posterior vocal cords. Crouzon Disease See Chapter 17.
Chapter 1: Syndromes and Eponyms 11 Curtius Syndrome Curtius syndrome is a orm o hypertrophy that may involve a single small part o the body or an entire system (ie, muscular, nervous, or skeletal systems). It is also known as congenital hemi acial hypertrophy. Dandy Syndrome Oscillopsia or jumbling o the panorama common in patients a er bilateral labyrinthectomy is characteristic o this syndrome. T ese patients are unable to ocus while walking or moving. Darier Disease (Keratosis Follicularis) Autosomal dominant, this skin disorder o the external auditory canal is characterized by kera- totic debris in the canal. Some investigators have advocated the use o vitamin A or steroids. De’Jean Syndrome Exophthalmos, diplopia, superior maxillary pain, and numbness along the route o the trigemi- nal nerve are ound with lesions o the orbital oor in this syndrome. Déjérine Anterior Bulbar Syndrome T is syndrome is evidenced by thrombosis o the anterior spinal artery, resulting in either an alternating hypoglossal hemiplegia or an alternating hypoglossal hemianesthetic hemiplegia. Demarquay-Richter Syndrome Demarquay-Richter syndrome is a congenital oro acial disorder characterized by cle lip, cle palate, lower lip stulas, and progeria acies. De ective dentition, heart de ects, dwar sm, and nger abnormalities may be seen. DIDMOAD Syndrome DIDMOAD syndrome is an autosomal recessive disorder associating diabetes insipidus, dia- betes mellitus, optic atrophy, and dea ness. Diabetes mellitus is usually juvenile in onset and insulin dependent. T e diabetes insipidus has a varied time o onset and is vasopressin sensitive, indicative o degeneration o the hypothalamic cells or o the supraopticohypophyseal tract. T e hearing loss is sensorineural and progressive, and primarily a ects the higher tones. Urinary tract abnormalities ranging rom atonic bladder to hydronephrosis and hydroureter have been reported with this disorder. DiGeorge Syndrome Lischaneri reported three categories o this syndrome: A. T ird and ourth pharyngeal pouch syndrome, characterized by cardiovascular and cranio acial anomalies as well as abdominal visceral abnormalities B. DiGeorge syndrome (thymus agenesis) C. Partial DiGeorge syndrome (thymic hypoplasia in which the thymus gland weighs less than 2 g) T e patients have small mal ormed pinnae with narrow external auditorycanals and abnor- mal ossicles. T e patients also have shortened cochlea o the Mondini type as well as an absence o hair cells in the hook region, hypertelorism with nasal cle , shortened philtrum, and micro- gnathia. Other middle ear anomalies include an absence o stapedial muscle, hypoplastic acial nerve, and absent oval window. Most o the ndings are symmetrical.
12 Part 1: General Otolaryngology Down Syndrome See section on trisomy in Chapter 17. Dysphagia Lusoria Dysphagia lusoria is secondary to an abnormal right subclavian artery. T e right subclavian arises abnormally rom the thoracic aorta by passing behind or in ront o the esophagus, thus compressing it. Eagle Syndrome T e patient has elongation o the styloid process or ossi cation o the stylohyoid ligament caus- ing irritation o the trigeminal, acial, glossopharyngeal, and vagus nerves. Symptoms include recurrent nonspeci c throat discom ort, oreign body sensation, dysphagia, acial pain, and increased salivation. Carotidynia may result rom impingement o the styloid process on the carotid artery, producing regional tenderness or headaches. T e only e ective treatment or Eagle syndrome is surgical shortening o the styloid process. Ectodermal Dysplasia, Hidrotic See Chapter 17. Ectodermal Dysplasia, Hypohidrotic T is syndrome consists o hypodontia, hypotrichosis, and hypohidrosis. Principally, the struc- tures involved are o ectodermal origin. Eyelashes and especially eyebrows are entirely missing. Eczema and asthma are common. Aplasia o the eccrine sweat glands may lead to severe hyper- pyrexia. T e inheritance is X-linked recessive. 18q Syndrome T is syndrome consists o psychomotor retardation, hypotonia, short stature, microcephaly, hypoplastic mid ace, epicanthus, ophthalmologic abnormalities, cle palate, congenital heart disease, abnormalities o the genitalia, tapered ngers, aural atresia, and conductive hearing loss. Eisenlohr Syndrome Numbness and weakness in the extremities; paralysis o the lips, tongue, and palate; and dysar- thria are evidenced. Elschnig Syndrome Extension o the palpebral ssure laterally, displacement o the lateral canthus, ectropion o the lower lid, and lateral canthus are observed. Hypertelorism, cle palate, and cle lip are re- quently seen. Empty Sella Syndrome T e patient has an enlarged sella, giving the appearance o a pituitary tumor. An air encepha- logram shows an empty sella. T e syndrome consists o the abnormal extension into the sella turcica o an arachnoid diverticulum lled with CSF, displacing and compressing the pituitary gland. Four causal theories o this syndrome exist: (1) rupture o an intrasellar or parasellar cyst; (2) in arction o a pituitary adenoma; (3) pituitary hypertrophy and subsequent involution; and (4) the most common theory, the syndrome is due to CSF pressure through a congenitally de - cient sella diaphragm leading to the ormation o an intrasellar arachnoidocele. A trans-septal or trans-sphenoidal route to the sella is a treatment to consider.
Chapter 1: Syndromes and Eponyms 13 T e primaryemptysella syndrome is due to congenital absence o the diaphragm sella, with gradual enlargement o the sella secondary to pulsations o the brain. Secondary empty sella syndrome may be due to necrosis o an existing pituitary tumor a er surgery, postirradiation directed at the pituitary, or pseudotumor cerebri. Face-Hand Syndrome Face-hand syndrome is a re ex sympathetic dystrophy that is seen a er a stroke or myocardial in arction. T ere may be edema and erythema o the involved parts along with persistent burning. Fanconi Anemia Syndrome Patients have aplastic anemia with skin pigmentation, skeletal de ormities, renal anomalies, and mental retardation. Death due to leukemia usually ensues within 2 years. T e disorder rarely occurs in adults. (A variant is congenital hypoplastic thrombocytopenia, which is inherited as an autosomal recessive trait.) It is characterized by spontaneous bleeding and other congenital anomalies. T e bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes vary rom decreased to absent. It is associated with unrepaired chromosome breakage. Congenital anomalies o the inner, middle, and external ear could be causes o the dea ness that accompanies this syndrome. Felty Syndrome Felty syndrome is a combination o leukopenia, arthritis, and enlarged lymph nodes and spleen. First and Second Branchial Arch Syndromes (Hemi acial Microsomia, Lateral Facial Dysplasia) T is disorder consists o a spectrum o cranio acial mal ormations characterized by asymmetric acies with unilateral abnormalities. T e mandible is small with hypoplastic or absent ramus and condyle. Aural atresia, hearing impairment, tissue tags rom the tragus to the oral commissure, coloboma o the upper eyelid, malar hypoplasia, and cle palate also may be present. Cardiovas- cular, renal, and nervous system abnormalities have been noted in association with this disorder. Fish Odor Syndrome Clinical symptoms o this peculiar syndrome consist o a sh odor emanating rom the mucus, particularly in the morning. A challenge test with either choline bitartrate or trimethylamine is diagnostic o this disease. Eating non–choline-containing oods usually helps. No long-term e ects are known. Fordyce Disease Fordyce disease is characterized by pseudocolloid o the lips, a condition marked by the pres- ence o numerous, small yellowish-white granules on the inner sur ace and vermilion border o the lips. Histologically, the lesions appear as ectopic sebaceous glands. Foster Kennedy Syndrome Patients with this disorder show ipsilateral optic atrophy and scotomas and contralateral pap- illedema occurring with tumors or other lesions o the rontal lobe or sphenoidal meningioma. Anosmia may be seen. Fothergill Disease T e combination o tic douloureux and anginose scarlatina is characteristic o this disease.
14 Part 1: General Otolaryngology Foville Syndrome Facial paralysis with ipsilateral paralysis o conjugate gaze and contralateral pyramidal hemiple- gia are diagnostic. innitus, dea ness, and vertigo may occur with in ranuclear involvement. Loss o taste o the anterior two-thirds o the tongue with decreased salivary and lacrimal secre- tions is seen with involvement o the nervus intermedius. Frey Syndrome In the normal person, the sweat glands are innervated by sympathetic nerve bers. A er paroti- dectomy, the auriculotemporal nerve sends its parasympathetic bers to innervate the sweat glands instead. T e incidence o Frey syndrome a er parotidectomy in children has been esti- mated to be about 20%. Also called preauricular gustatory sweating, parotidectomy is considered the most com- mon etiology. Friedreich Disease T e disease consists o acial hemihypertrophy involving the eyelids, cheeks, lips, acial bones, tongue,ears,and tonsils.It maybeseen aloneor in association with generalized hemihypertrophy. Garcin Syndrome Paralysis o cranial nerves III through X, usually unilateral or occasionally bilateral, is observed. It may be the result o invasion by neoplasm, granulomas, or in ections in the retropharyngeal space. Gard-Gignoux Syndrome Gard-Gignoux syndrome involves paralysis o the eleventh nerve and the tenth nerve below the nodose ganglion. T e cricothyroid unction and sensation are normal. T e symptoms include vocal cord paralysis and weakness o the trapezius and sternocleidomastoid muscles. Gardner Syndrome Gardner syndrome is an autosomal dominant disease whose symptoms include broma, oste- oma o the skull, mandible, maxilla, and long bones, with epidermoid inclusion cysts in the skin and polyps in the colon. T ese colonic polyps have a marked tendency toward malignant degeneration. Gargoylism (Hurler Syndrome) See Chapter 17. Gaucher Disease As an autosomally recessive inherited disorder o lipid metabolism, this syndrome results in a decrease in activity o the glucocerebrosidase. T is leads to an increased accumulation o glu- cocerebrosides, particularly in the retroendothelial system. T ere are three classi cations o the disease: (1) the chronic non-neuronopathic orm, characterized by joint pain, aseptic necrosis, pathologic ractures, hepatosplenomegaly, thrombocytopenia, anemia, and leukopenia; (2) the acute neuronopathic Gaucher disease (in antile orm), causing increased neurologic complica- tions that o en end in death be ore the rst 2 years o li e; and (3) the juvenile and less severe orms than the in antile orm.
Chapter 1: Syndromes and Eponyms 15 Gerlier Disease With the presence o vertigo and kubisagari, it is observed among cowherds. It is marked by pain in the head and neck with visual disturbances, ptosis, and generalized weakness o the muscles. Giant Apical Air Cell Syndrome Giant apical air cell syndrome, rst described in 1982, consists o giant apical air cells, spontane- ous CSF rhinorrhea, and recurrent meningitis. It is caused by the constant pounding o the brain against the dura overlying the giant apical air cell, which leads to dural rupture and CSF leak. Gilles de la ourette Syndrome Characterized by chorea, coprolalia, and tics o the ace and extremities, it a ects children (usually boys 5-10 years old). Repetitive acial grimacing, blepharospasms, and arm and leg contractions may be present. Compulsive grunting noises or hiccupping subsequently become expressions o rank obscenities. Goldenhar Syndrome A rare, nonhereditary congenital variant o hemi acial microsomia, Goldenhar syndrome is a congenital syndrome o the rst and second arch. It is characterized by underdevelopment o cranio acial structures, vertebral mal ormations, and cardiac dys unction. Clinical eatures o this syndrome are malar and maxillary hypoplasia, poor ormation o external auditory canal, supernumerary ear tags and antetragal pits, orbit, enlarged mouths, renal anomalies, and miss- ing growth centers in the condyle, causing delayed eruption o teeth and teeth crowding. Intel- ligence is usually normal or mildly retarded. Maxillo acial reconstruction in young patients demands consideration o uture growth and development. It is also recommended or psy- chologic reasons as well as reasons involving the proper expansion o the skin that will later aid in urther reconstruction. T is syndrome is not to be con used with reacher Collins, Berry, or Franceschetti-Zwahlen-Klein syndromes. T ese tend to show well-de ned genetic patterns (irregular but dominant), whereas Goldenhar syndrome does not. Goodwin umor (Benign Lymphoepithelial Lesion) T is syndrome is characterized by in ammatory cells, lymphocytes, plasma cells, and reticular cells. Gradenigo Syndrome Gradenigo syndrome is due to an extradural abscess involving the petrous bone. T e symptoms are suppurative otitis, pain in the eye and temporal area, abducens paralysis, and diplopia. Grisel Syndrome Grisel syndrome, also known as nasopharyngeal torticollis, is the subluxation o the atlantoaxial joint and is usually associated with children. It is associated with pharyngitis, nasopharyngitis, adenotonsillitis, tonsillar abscess, parotitis, cervical abscess, and otitis media. T is syndrome has been known to occur a er nasal cavity in ammation, tonsillectomy, adenoidectomy, mastoidec- tomy, choanal atresia repair, and excisions o a parapharyngeal rhabdomyosarcoma. Proposals or etiology include overdistention o the atlantoaxial joint ligaments by e usion, rupture o the transverse ligament, excessive passive rotation during general anesthesia, uncoordinated re ex action o the deep cervical muscles, spasm o the prevertebral muscles, ligamentous relaxation rom decalci cation o the vertebrae, and weak lateral ligaments. Clinical eatures include spon- taneous torticollis in a child, a exed and rotated head with limited range o motion, at ace,
16 Part 1: General Otolaryngology and Sudeck sign (displacement o the spine o the axis to the same side as the head is turned). reatment includes skeletal skull traction under uoroscopic control to realign the odontoid process within the transverse ligament sling, ollowed by 6 to 12 weeks o immobilization. imely treatment is usually success ul. Guillain-Barré Syndrome Guillain-Barré syndrome is in ectious polyneuritis o unknown etiology (“perhaps” viral) caus- ing marked paresthesias o the limbs, muscular weakness, or a accid paralysis. CSF protein is increased without an increase in cell count. Hallermann-Strei Syndrome Hallermann-Strei syndrome consists o dyscephaly, parrot nose, mandibular hypoplasia, pro- portionate nanism; hypotrichosis o scalp, brows, and cilia; and bilateral congenital cataracts. Most patients exhibit nystagmus or strabismus. T ere is no demonstrable genetic basis. Hanhart Syndrome A orm o acial dysmorphia, Hanhart syndrome is characterized by (1) bird-like pro le o ace caused by micrognathia, (2) opisthodontia, (3) peromelia, (4) small growth, (5) normal intelli- gence, (6) branchial arch de ormity resulting in conductive hearing loss, (7) tongue de ormities and o en a small jaw, and (8) possibly some limb de ects as well. Ear surgery should be care ully considered because o the abnormal course o the acial nerve due to this syndrome. Heer ordt Syndrome or Disease In Heer ordt syndrome, the patient develops uveoparotid ever. Heer ordt syndrome is a orm o sarcoidosis (see Chapter 12). Hick Syndrome Hick syndrome is a rare condition characterized by a sensory disorder o the lower extremities, resulting in per orating eet and by ulcers that are associated with progressive dea ness due to atrophy o the cochlear and vestibular ganglia. Hippel-Lindau Disease Hippel-Lindau disease consists o angioma o the cerebellum, usually cystic, associated with angioma o the retina and polycystic kidneys. Hollander Syndrome With Hollander syndrome, there is appearance o a goiter during the third decade o li e related to a partialde ect in the couplingmechanism in thyroxine biosynthesis. Dea nessdue to cochlear abnormalities is usually related to this. Homocystinuria Homocystinuria is a recessive hereditary syndrome secondary to a de ect in methionine metab- olism with resultant homocystinemia, mental retardation, and sensorineural hearing loss. Horner Syndrome T e presenting symptoms o Horner syndrome are ptosis, miosis, anhidrosis, and enophthalmos due to paralysis o the cervical sympathetic nerves.
Chapter 1: Syndromes and Eponyms 17 Horton Neuralgia Patients have unilateral headaches centered behind or close to the eye accompanied or preceded by ipsilateral nasal congestion, su usion o the eye, increased lacrimation and acial redness, and swelling. Hunt Syndrome A. Cerebellar tumor, an intention tremor that begins in one extremity gradually increas- ing in intensity and subsequently involving other parts o the body B. Facial paralysis, otalgia, and aural herpes due to disease o both motor and sensory bers o the seventh nerve C. A orm o juvenile paralysis agitans associated with primary atrophy o the pallidal system Hunter Syndrome A hereditary and sex-linked disorder, this incurable syndrome involves multiple organ systems through mucopolysaccharide in ltration. Death, usually by the second decade o li e, is o en caused by an in ltrative cardiomyopathy and valvular disease leading to heart ailure. Physi- cal characteristics include prominent supraorbital ridges, large attened nose with ared nares, low-set ears, progressive corneal opacities, generous jowls, patulous lips and prognathism, short neck,abdominalprotuberance,hirsutism,short stature,extensiveosteoarthritis(especiallyin the hips, shoulders, elbows, and hands), MJarthritis, pseudopapilledema, and low-pressure hydro- cephalus. Chondroitin sul ate B and heparitin in urine, mental retardation, beta-galactoside de ciency, and hepatosplenomegaly are also eatures o this syndrome. T ere is cerebral storage o three gangliosides: GM1 , GM2 , and GM3 . Compressive myelopathy may result rom vertebral dislocation. High spinal cord injury is a great complication in surgery. Neurologic development is o en slowed or never acquired. Abdominal abnormalities, respiratory in ections, and cardio- vascular troubles plague the patient. Immotile Cilia Syndrome T is syndrome appears to be a congenital de ect in the ultrastructure o cilia that renders them incapable o movement. Both respiratory tract cilia and sperm are involved. T e clinical picture includes bronchiectasis, sinusitis, male sterility, situs inversus, and otitis media. Histologically, there is a complete or partial absence o dynein arms, which are believed to be essential or cilia movement and sperm tail movement. Also no cilia movements were observed in the mucosa o the middle ear and the nasopharynx. Inversed Jaw-Winking Syndrome When there are supranuclear lesions o the h nerve, touching the cornea may produce a brisk movement o the mandible to the opposite side. Jackson Syndrome Cranial nerves X, XI, and XII are a ected by nuclear or radicular lesion. T ere is ipsilateral ac- cid paralysis o the so palate, pharynx, and larynx with weakness and atrophy o the sternoclei- domastoid and trapezius muscles and muscles o the tongue. Jacod Syndrome Jacod syndrome consists o total ophthalmoplegia, optic tract lesions with unilateral amaurosis, and trigeminal neuralgia. It is caused by a middle cranial ossa tumor involving the second through sixth cranial nerves.
18 Part 1: General Otolaryngology Job Syndrome Job syndrome is one o the groups o hyperimmunoglobulin E (hyper-IgE) syndromes that are associated with de ective chemotaxis. T e clinical picture includes air skin, red hair, recurrent staphylococcal skin abscesses with concurrent other bacterial in ections and skin lesions, as well as chronic purulent pulmonary in ections and in ected eczematoid skin lesions. T is syndrome obtained its name rom the Biblical passage re erring to Job being smitten with boils. It is o interest to the otolaryngologist because o head and neck in ections. Jugular Foramen Syndrome (Vernet Syndrome) Cranial nerves IX, X, and XI are paralyzed, whereas XII is spared because o its separate hypo- glossal canal. Horner syndrome is not present because the sympathetic chain is below the ora- men. T is syndrome is most o en caused by lymphadenopathy o the nodes o Krause in the oramen. T rombophlebitis, tumors o the jugular bulb, and basal skull racture can cause the syndrome. T e glomus jugulare usually gives a hazy margin o involvement, whereas neurinoma gives a smooth, sclerotic margin o enlargement. T e jugular oramen is bound medially by the occipital bone and laterally by the temporal bone. T e oramen is divided into anteromedial (pars nervosa) and posterolateral (pars vascularis) areas bya brous or bonyseptum. T e medial area transmits nerves IX, X, and XI as well as the in erior petrosal sinus. T e posterior compart- ment transmits the internal jugular vein and the posterior meningeal artery. T e right oramen is usually slightly larger than the le oramen. Kallmann Syndrome Kallmann syndrome consists o congenital hypogonadotropic eunuchoidism with anosmia. It is transmitted via a dominant gene with variable penetrance. Kaposi Sarcoma Patients have multiple idiopathic, hemorrhagic sarcomatosis particularly o the skin and viscera. Radiotherapy is the treatment o choice. Kartagener Syndrome T e symptoms are complete situs inversus associated with chronic sinusitis and bronchiectasis. It is also called the Kartagener triad. Cilia and agella o a patient lack normal dynein side arms o ciliary A-tubes. De cient mucociliary transport causes sterility in both sexes. Keratosis Palmaris et Solaris T is disorder is an unusual inherited mal ormation. I these people live to 65 years o age, 50% to 75% o them develop carcinoma o the esophagus. Kimura Disease Kimura disease was rst described by Kimura et al in 1949 as a chronic in ammatory condition occurring in subcutaneous tissues, salivary glands, and lymph nodes. Etiology is unknown. His- tologically, there is dense brosis, lymphoid in ltration, vascular proli eration, and eosinophils. T is is di erent rom angiolymphoid hyperplasia with eosinophilia (ALHE). It is much more prevalent in people o Oriental descent. Laboratory studies show eosinophilia and elevated IgE. Di erential diagnosis includes ALHE, eosinophilic granuloma, benign lymphoepithelial lesion, lymphocytoma, pyogenic granuloma, Kaposi sarcoma, hamartoma, and lymphoma. reatment includes corticosteroids, cryotherapy, radiation, and surgery.
Chapter 1: Syndromes and Eponyms 19 T e di erences between Kimura disease and ALHE are as ollows: Kimura Age: 30-60 (ALHE age 20-50) Sex: Male (ALHE emale) Larger lesions (ALHE < 1 cm) Deep (ALHE super cial) More lymphoid ollicles than ALHE Fewer mast cells than ALHE Less vascular hyperplasia than ALHE More brosis than ALHE More eosinophilia than ALHE More IgE than ALHE Kleinschmidt Syndrome Symptoms include in uenzal in ections, resulting in laryngeal stenosis, suppurative pericarditis, pleuropneumonia, and occasionally meningitis. Kline elter Syndrome Kline elter syndrome is a sex chromosome de ect characterized by eunuchoidism, azoospermia, gynecomastia, mental de ciency, small testes with atrophy, and hyalinization o semini erous tubules. T e karyotype is usually XXY . Klinkert Syndrome Paralysis o the recurrent and phrenic nerves due to a neoplastic process in the root o the neck or upper mediastinum is evidenced. T e sympathetics may be involved. (Le -side involvement is more common than right-side involvement.) It can be a part o Pancoast syndrome. Lacrimoauriculodentodigital Syndrome Autosomal dominant, occasional middle ear ossicular anomaly with cup-shaped ears, abnormal or absent thumbs, skeletal orearm de ormities, sensorineural hearing loss, and nasolacrimal duct obstruction are the characteristics o lacrimoauriculodentodigital syndrome. Large Vestibular Aqueduct Syndrome T e large vestibular aqueduct as an isolated anomalyo the temporal bone is associated with sen- sorineural hearing loss. It is more common in childhood than in adulthood. In this syndrome, the rugose portion o the endolymphatic sac is also enlarged. Endolymphatic sac procedures to improve hearing are not o en success ul. A vestibular aqueduct is considered enlarged i its anteroposterior diameter on computed tomography (C ) scan is greater than 1.5 mm. Larsen Syndrome Larsen syndrome is characterized by widely spaced eyes, prominent orehead, at nasal bridge, midline cle o the secondary palate, bilateral dislocation o the knees and elbows, de ormities o the hands and eet, and spatula-type thumbs; sometimes tracheomalacia, stridor, laryngoma- lacia, and respiratory di culty are present. T erapy includes maintaining adequate ventilation.
20 Part 1: General Otolaryngology Lemierre Syndrome First discussed by André LeMierre in 1936, usually caused by anaerobic, nonmotile gram- negative rod, Fusobacterium necrophorum, Lemierre syndrome can be ound in normal ora o oropharynx, gastrointestinal (GI), emale genital tract; sensitive to clindamycin and metronida- zole, penicillin, and chloramphenicol. Usually in young adults rst presenting with oropharynx in ection, progress to neck and parapharyngeal abscess, leading to internal jugular and sigmoid sinus thrombosis leading to septic embolism causing septic arthritis, liver and splenic abscess, sigmoid sinus thrombosis ndings include headache, otalgia, vertigo, vomiting, otorrhea and rigors, proptosis retrobulbar pain, papilledema, and ophthalmoplegia. Lermoyez Syndrome Lermoyez syndrome is a variant o Ménière disease. It was rst described by Lermoyez in 1921 as dea ness and tinnitus ollowed by a vertiginous attack that relieved the tinnitus and improved the hearing. Lethal Midline Granuloma Syndrome Destroying cartilage, so tissue, and bone, this disease mani ests itsel by a number o entities, including idiopathic midline destructive disease, Wegener granulomatosis, polymorphic reticu- losis, nasal lymphoma, and non-Hodgkin lymphoma (NHL). High-dose local radiation totaling 5000 rad is the treatment o choice or localized cases. Chemotherapy involving an alkylating agent (cyclophosphamide) is recommended or disseminated cases. Lö er Syndrome Löf er syndrome consists in pneumonitis characterized by eosinophils in the tissues. It is pos- sibly o parasitic etiology. Loose Wire Syndrome Loose wire syndrome occurs in patients with stapedectomy and insertion o a prosthesis that attaches to the long process o the incus by means o a crimped wire. It is a late complication, occurring on an average 15 years a er surgery. A triad o symptoms is present that improves temporarily with middle ear in ation: auditory acuity, distortion o sound, and speech discrimi- nation. reatment in revision surgeryinvolves nding the loose wire attachment at the incus and tightening that wire to allow the incus and prosthesis to move as one. Louis-Bar Syndrome T is autosomal recessive disease presents as ataxia, oculocutaneous telangiectasia, and sino- pulmonary in ection. It involves progressive truncal ataxia, slurred speech, xation nystagmus, mental de ciency, cerebellar atrophy, de cient immunoglobulin, and marked requency o lym- phoreticular malignancies. T e patient rarely lives past age 20. Ma ucci Syndrome Ma ucci syndrome is characterized by multiple cutaneous hemangiomas with dyschondroplasia and o en enchondroma. T e origin is unknown, and it is not hereditary. Signs and symptoms o this syndrome usually appear during in ancy. It equally a ects both sexes and has no racial pre er- ence. T e dyschondroplasia may cause sharp bowing or an uneven growth o the extremities as well as give rise to requent ractures. Five to 10% o Ma ucci syndrome patients have head and neck involvement giving rise to cranial nerve dys unction and hemangiomas in the head and neck area. T e hemangiomas in the nasopharynx and larynx could cause airway compromise as well as
Chapter 1: Syndromes and Eponyms 21 deglutition problems. Fi een to 20% o these patients later undergo sarcomatous degeneration in one or more o the enchondromas. T e percentage o malignant changes is greater in older patients, with the percentage o malignant degeneration approaching 44%in patients older than 40. T is syndrome is not to be con used with Klippel- renaunay syndrome, which causes no underdeveloped extremities, Sturge-Weber syndrome, or von Hippel-Lindau syndrome. No treatment is known or this syndrome, although surgical procedures to treat the actual de ormi- ties are sometimes necessary. Mal de Debarquement Syndrome Mal de Debarquement syndrome (or MDDS) is an imbalance or rocking sensation that occurs a er prolonged exposure to motion (most commonly a er a sea cruise or a long airplane ight). ravelers o en experience this sensation temporarily a er disembarking, but in the case o MDDSsu erers, it can persist or 6 to 12 months or even many years in some cases. T e imbalance is generally not associated with any nausea, nor is it alleviated by typical motion sickness drugs such as scopolamine or meclizine. Symptoms are usually most pro- nounced when the patient is sitting still; in act, the sensations are usually minimized by actual motion such as walking or driving. T e unctional cause o MDDS is unknown. (Vestibular and CNS tests or MDDS patients invariably turn out normal results.) Speculation about the cause o MDDSincludes the ollowing: • Psychiatric condition (particularly linked to depression) • A hormonal-related condition (may occur more o en in emales) • Otolith organ or CNSabnormalities • Some link to a variant o migraine Diagnosis o MDDSis generally a process o exclusion. T e medical literature describes MDDSas self-limitingcondition. Valium and other derivatives (particularly Klonopin) have been known to help alleviate some o the severe symptoms in MDDSpatients, but there is always a worry that these are habit orming and may prolong the eventual disappearance o the condition. In general, physical activity is recommended or vestibular rehabilitation. Marcus Gunn Syndrome (Jaw-Winking Syndrome) Marcus Gunn syndrome results in an increase in the width o the eyelids during chewing. Some- times the patient experiences rhythmic elevation o the upper eyelid when the mouth is open and ptosis when the mouth is closed. Marie-Strümpell Disease Marie-Strümpell disease is rheumatoid arthritis o the spine. Masson umor Masson tumor is intravascular papillary endothelial hyperplasia caused by excessive proli era- tion o endothelial cells. It is a benign condition. Di erential diagnosis includes angiosarcoma, Kaposi sarcoma, and pyogenic granuloma. Melkersson-Rosenthal Syndrome ( riad:Recurrent oro acial swelling, one or more episodes o acial paralysis, and lingua plicata.) Melkersson-Rosenthal syndrome is a congenital disease o unknown etiology, and it mani ests
22 Part 1: General Otolaryngology as recurring attacks o unilateral or bilateral acial paralysis (see Chapter 21), swelling o the lips, and urrowing o the tongue. It is associated with high serum levels o angiotensin-converting enzyme during af iction, and also known as oro acial granulomatosis, cheilitis granulomatosis, Scheuermann glossitis granulomatosis, and Miescher cheilitis. reatment should ocus on acial paralysis and edema. Steroids and acial nerve decompres- sion have had limited success. Meyenburg Syndrome (Familial Myositis Fibrosa Progressiva) Meyenburg syndrome is a disease in which the striated muscles are replaced by brosis. Fibro- sarcoma rarely originates rom this disease. Middle Lobe Syndrome Middle lobe syndrome is a chronic atelectatic process with brosis in one or both segments o the middle lobe. It is usually secondary to obstruction o the middle lobe bronchus by hilar adenopathy. T e hilar adenopathy may be transient, but the bronchiectasis that resulted persists. reatment is surgical resection. Mikulicz Disease T e symptoms characteristic o Mikulicz disease (swelling o the lacrimal and salivary glands) occur as complications o some other disease, such as lymphocytosis, leukemia, or uveoparotid ever. Millard-Gubler Syndrome Patients present with ipsilateral paralysis o the abducens and acial nerves with contralateral hemiplegia o the extremities due to obstruction o the vascular supply to the pons. Möbius Syndrome Möbius syndrome is a nonprogressive congenital acial diplegia (usually bilateral) with unilat- eral or bilateral loss o the abductors o the eye, anomalies o the extremities, and aplasia o the brachial and thoracic muscles. It requently involves other cranial nerves. Saito showed evidence that the site o nerve lesions is in the peripheral nerve. T e etiology could be CNS hypoplasia, primary peripheral muscle de ect with secondary nerve degeneration, or lower motor neuron involvement. Morgagni-Stewart-Morel Syndrome Morgagni-Stewart-Morel syndrome occurs in menopausal women and is characterized by obesity, dizziness, psychologic disturbances, inverted sleep rhythm, and hyperostosis rontalis interna. reatment is supportive. Multiple Endocrine Adenomatosis Multiple Endocrine Adenomatosis ype IIA (Sipple Syndrome) Sipple syndrome is a amil- ial syndrome consisting o medullary carcinoma o the thyroid, hyperparathyroidism, and pheochromocytoma. Multiple Endocrine Adenomatosis ype IIB T is multiple endocrine adenomatosis (MEA) variant consists o multiple mucosal neuromas, pheochromocytoma, medullary carcinoma o the thyroid, and hyperparathyroidism. T is syndrome is inherited in an autosomal dominant pattern. Mucosal neuromas principally involve the lips and anterior tongue. Numerous white medullated nerve bers traverse the cornea to anastomose in the pupillary area.
Chapter 1: Syndromes and Eponyms 23 Munchausen Syndrome Munchausen syndrome was named a er Baron Hieronymus Karl Freidrich von Münchausen (1720-1791) by Asher in 1951. T e integral eatures o this syndrome include the ollowing: A. A real organic lesion rom the past that has le some genuine signs but is causing no organic symptoms. B. Exorbitant lying with dramatic presentation o nonexistent symptoms. C. raveling widely with multiple hospitalizations. D. Criminal tendencies. E. Willingness to undergo pain ul and dangerous treatment. F. Presenting challenging illnesses or treatment. G. Unruly behavior during hospital stays and early sel -discharge without prior approval. H. Patients o en in ict pain on their own children and orcibly create symptoms to indi- rectly receive hospital treatment. T e patients usually go rom one medical center to another to be admitted with dramatic presentations o nonorganic symptoms related to a real organic lesion on the past medical history. Nager Syndrome (Acro acial Dysostosis) Acro acial dysostosis patients have acies similar to those seen with reacher Collins syndrome. T ey also present with preaxial upper limb de ects, microtia, atresia o the external auditory canals, and mal ormation o the ossicles. Conductive and mixed hearing losses may occur. Nager de Reynier Syndrome Hypoplasia o the mandible with abnormal implantation o teeth associated with aural atresia characterizes this syndrome. Neuro bromatosis (von Recklinghausen Disease) Salient Features A. Autosomal dominant. B. Mental retardation common in amilies with neuro bromatosis. C. Arises rom neurilemmal cells or sheath o Schwann and broblasts o peripheral nerves. D. Ca é au lait spots—giant melanosomes (presence o six or more spots > 1.5 cm is diag- nostic o neuro bromatosis even i the amily history is negative). E. O all neuro bromatoses, 4% to 5% undergo malignant degeneration with a sudden increase in growth o ormerly static nodules. T ese nodules may become neuro bro- sarcomas, and they may metastasize widely. External Features A. Ca é au lait spots B. Fibromas Internal Features A. Pheochromocytoma. B. Meningioma. C. Acoustic neuroma: bilateral in type 2 neuro bromatosis. D. GI bleeding. E. Intussusception bowel. F. Hypoglycemia (intraperitoneal bromas).
24 Part 1: General Otolaryngology G. Fibrous dysplasia. H. Subperiosteal bone cysts. I. Optic nerve may be involved, causing blindness and proptosis. J. May present with macroglossia. K. May involve the parotid or submaxillary gland. L. T e nodules may be pain ul. M. Nodules may enlarge suddenly i bleeding o the tumor occurs or i there is malignant degeneration. T e treatment is only to relieve pressure rom expanding masses. It usually does not recur i the tumor is completely removed locally. Nothnagel Syndrome T e symptoms include dizziness, a staggering and rolling gait with irregular orms o oculomo- tor paralysis, and nystagmus o en is present. T is syndrome is seen with tumors o the midbrain. Oculopharyngeal Syndrome Oculopharyngeal syndrome is characterized by hereditary ptosis and dysphagia, and is an auto- somal dominant disease having equal incidence in both sexes. It is related to a high incidence o esophageal carcinoma. Age o onset is between 40 and 50 years, and it is particularly common among French Canadians. Marked weakness o the upper esophagus is observed together with an increase in serum creatinine phosphokinase. It is a myopathy and not a neuropathy. reat- ment includes dilatation and cricopharyngomyotomy. Ollier Disease Ollier disease consists o multiple chondromatosis,10%o which is associated with chondrosarcoma. Ondine Curse Failure o respiratory center automaticity with apnea, especially evident during sleep, is symp- tomatic. Also known as the alveolar hypoventilation syndrome, it may be associated with increased appetite and transient central diabetes insipidus. Hypothalamic lesions are thought to be the cause o this disorder. Oral-Facial-Digital Syndrome I See Chapter 17 or oral- acial-digital syndrome I. A lethal trait in men, it is inherited as an X-linked dominant trait limited to women. Symp- toms include multiple hyperplastic renula, cle tongue, dystopia canthorum, hypoplasia o the nasal alar cartilages, median cle o the upper lip, asymmetrical cle palate, digital mal orma- tion, and mild mental retardation. About 50%o the patients have hamartoma between the lobes o the divided tongue. T is mass consists o brous connective tissue, salivary gland tissue, ew striated muscle bers, and rarely cartilage. One-third o the patients present with ankyloglossia. Orbital Apex Syndrome Orbital apex syndrome involves the nerves and vessels passing through the superior sphenoid ssure and the optic oramen with paresis o cranial nerves III, IV, and VI. External ophthal- moplegia is associated with internal ophthalmoplegia with a dilated pupil that does not react to
Chapter 1: Syndromes and Eponyms 25 either light or convergence. Ptosis as well as periorbital edema are due to ourth nerve paresis. Sensory changes are secondary to the lacrimal rontal nasal ciliary nerves as well as the three branches o the ophthalmic nerve. T e optic nerve usually is involved. Ortner Syndrome Cardiomegaly associated with laryngeal paralysis secondary to compression o the recurrent laryngeal nerve is observed with this syndrome. Osler-Weber-Rendu Disease (Hereditary Hemorrhagic elangiectasia) Osler-Weber-Rendu disease is an autosomal dominant disease in which the heterozygote lives to adult li e, whereas the homozygous state is lethal at an early age. T e patient has punctate hem- angiomas (elevated, dilated capillaries and venules) in the mucous membrane o the lips, tongue, mouth, GI tract, and so on. Pathologically, they are vascular sinuses o irregular size and shape lined by a thin layer o endothelium. T e muscular and elastic coats are absent. Because o their thin walls these vascular sinuses bleed easily, and because o the lack o muscular coating the bleeding is di cult to control. T e patient has normal blood elements and no coagulation de ect. T e other blood vessels are normal. I a person with this disease marries a normal person, what are the chances that the o spring will have this condition? Because the patient with this disease is an adult, we can assume that he is heterozygous, as the homozygote dies earlyin li e. T ere ore, the child will have a 50% chance o having this hereditary disease. Otopalatodigital Syndrome Otopalatodigital syndrome is characterized by skeletal dysplasia, conductive hearing loss, and cle palate. Middle ear anomalies are also associated with this syndrome. Although the mode o inheritance is not known, some suggest that X-linked recessive inheritance is possible. Symp- toms tend to be less severe in emales than in males. T e diagnosis o otopalatodigital (OPD) syndrome is sometimes based on characteristic acies and de ormities o hands and eet. Physi- cal eatures include mild dwar sm, mental retardation, broad nasal root, rontal and occipital bossing, hypertelorism, small mandible, stubby, clubbed digits, low-set and small ears, winged scapulae, malar attening, downward obliquity o the eye, and down-turned mouth. T e inner ear has been known to display de ormities likened to a mild type o Mondini dysplasia. Surgical attempts to improve hearing loss are not always recommended since certain de ormities, such as a missing round window, make such attempts unsuccess ul. Paget Disease (Osteitis De ormans) See Chapter 17. T is term also is used to characterize a disease o elderly women who have an in ltrated, eczematous lesion surrounding the nipple and areola associated with subjacent intraductal car- cinoma o the breast. Paget Osteitis T is disorder is related to sarcomas. Pancoast Syndrome See Chapter 7. Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher disease is an X-linked recessive sudanophilic leukodystrophy. T e CNS myelin ormsimproperlyand never matures,sometimes endingin death bythe age o 2 or 3 years.
26 Part 1: General Otolaryngology Nystagmoid eye movements are characteristic at age 4 to 6 months, ollowed by a delay in motor development. Prenatal amniocentesis is not use ul in detecting this disease. Neonatal stridor, a speci c genealogy combined with a characteristic auditory brain stem response (ABR) wave can lead to early diagnosis. Characteristic waves have been known to be missing rostral waves and normal wave I latency. Males are af icted, whereas emales are unknowing carriers. Pena-Shokeir Syndrome Rare autosomal recessive, a ects newborn camptodactyly, multiple ankylosis, pulmonary hypo- plasia, and acial anomaly. Generally poor prognosis and die shortly a er birth. Peutz-Jeghers Syndrome T e patient has pigmentation o the lips and oral mucosa and benign polyps o the GI tract. Granulosa theca cell tumors have been reported in emale patients with this syndrome. Pheochromocytoma Pheochromocytoma is associated with neuro bromatosis, cerebellar hemangioblastoma, epen- dymoma, astrocytoma, meningioma, spongioblastoma, multiple endocrine adenoma, or medul- lary carcinoma o the thyroid. Pheochromocytoma with or without the tumors may be inherited as an autosomal dominant trait. Some patients have megacolon, others su er neuro bromatosis o Auerbach and Meissner plexuses. Pierre Robin Syndrome Pierre Robin syndrome consists o glossoptosis, micrognathia, and cle palate. T ere is no sex predilection. T e etiologyis believed to be intrauterine insult at the ourth month o gestation, or it may be hereditary. wo-thirds o the cases are associated with ophthalmologic di culties (eg, detached retina or glaucoma), and one-third are associated with otologic problems (eg, chronic otitis media and low-set ears). Mental retardation is present occasionally. I the patient lives past 5 years, he or she can lead a airly normal li e (see Chapter 17). T e symptoms are choking and aspiration as a result o negative pressure created by excessive inspiratory e ort. Passing a naso- gastric (NG) tube may alleviate the negative pressure. Aerophagia has to be treated to prevent vomiting, airway compromise, and aspiration. racheotomy may not be the answer. A modi cation o the Douglas lip–tongue adhesion has helped prevent early separation o the adhesion. One theory explains that the cause may be that the etus’ s head is exed, prevent- ing orward growth o the mandible, orcing the tongue up and backward between the palatal shelves, and producing the triad o micrognathia, glossoptosis, and cle palate. Plummer-Vinson Syndrome (Paterson-Kelly Syndrome) Symptoms include dysphagia due to degeneration o the esophageal muscle, atrophy o the papillae o the tongue, as well as microcytic hypochromic anemia. Achlorhydria, glossitis, phar- yngitis, esophagitis, and ssures at the corner o the mouth also are observed. T e prevalence o this disease is higher in women than in men, and usually presents in patients who are in their ourth decade. reatment consists o iron administration, with esophagoscopy or dilatation and to rule out carcinoma o the esophagus, particularly at the postcricoid region. Pharyngoesopha- geal webs or stenosing may be noted. T is disease is to be contrasted with pernicious anemia, which is a megaloblastic anemia with diarrhea, nausea and vomiting, neurologic symptoms, enlarged spleen, and achlorhydria. Pernicious anemia is secondary to ailure o the gastric undus to secrete intrinsic actors neces- sary or vitamin B12 absorption. reatment consists o intramuscular vitamin B12 (ribo avin).
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KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf
KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf

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KJ Lee’s Essential Otolaryngology ( PDFDrive ).pdf

  • 1.
  • 2. K.J. Lee’ s Essential Otolaryngology
  • 3. Notice Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge, changes in treatment and drug therapy are required. T e authors and the publisher o this work have checked with sources believed to be reliable in their e orts to provide in orma- tion that is complete and generally in accord with the standards accepted at the time o publica- tion; however, in view o the possibility o human error or changes in medical sciences, neither the authors nor the publisher nor any other party who has been involved in the preparation or publication o this work warrants that the in ormation contained herein is in every respect ac- curate or complete, and they disclaim all responsibility or any errors or omissions or or the results obtained rom use o the in ormation contained in this work. Readers are encouraged to con rm the in ormation contained herein with other sources. For example and in particular, readers are advised to check the product in ormation sheet included in the package o each drug they plan to administer to be certain that the in ormation contained in this work is accurate and that changes have not been made in the recommended dose or in the contraindications or administration. T is recommendation is o particular importance in connection with new or in requently used drugs.
  • 4. K.J. Lee’ s Essential Otolaryngology Head & Neck Surgery Eleventh Edition Edited by YVONNECHAN, MD, FRCSC, MSc, HBSc Continuing Education & Pro essional Development Director, Department o Otolaryngology—Head & Neck Surgery Assistant Pro essor, University o oronto oronto, Ontario, Canada JOHN C. GODDARD, MD Otology, Neurotology, and Skull Base Surgery Department o Otolaryngology—Head & Neck Surgery Northwest Permanente, PC Portland, Oregon New Y ork Chicago San Francisco Athens London Madrid Mexico City Milan New Delhi Singapore Sydney oronto
  • 5. Copyright © 2016 by McGraw-Hill Education. All rights reserved. Except as permitted under the United States Copyright Act of 1976, no part of this publication may be reproduced or distributed in any form or by any means, or stored in a database or retrieval system, without the prior written permission of the publisher, with the exception that the program listings may be entered, stored, and executed in a computer system, but they may not be reproduced for publication. ISBN: 978-0-07-184993-7 MHID: 0-07-184993-9 The material in this eBook also appears in the print version of this title: ISBN: 978-0-07-184992-0, MHID: 0-07-184992-0. eBook conversion by codeMantra Version 1.0 All trademarks are trademarks of their respective owners. Rather than put a trademark symbol after every occurrence of a trademarked name, we use names in an editorial fashion only, and to the bene t of the trademark owner, with no intention of infringement of the trademark. Where such designations appear in this book, they have been printed with initial caps. McGraw-Hill Education eBooks are available at special quantity discounts to use as premiums and sales promotions or for use in corporate training programs. To contact a representative, please visit the Contact Us page at www.mhprofessional.com. Previous editions copyright © 2008 by The McGraw-Hill Companies, Inc. © 1999, 1995, 1991 by Appleton & Lange. TERMS OF USE This is a copyrighted work and McGraw-Hill Education and its licensors reserve all rights in and to the work. Use of this work is subject to these terms. Except as permitted under the Copyright Act of 1976 and the right to store and retrieve one copy of the work, you may not decompile, disassemble, reverse engineer, reproduce, modify, create derivative works based upon, transmit, distribute, disseminate, sell, publish or sublicense the work or any part of it without McGraw-Hill Education’s prior consent. You may use the work for your own noncommercial and personal use; any other use of the work is strictly prohibited. Your right to use the work may be terminated if you fail to comply with these terms. THE WORK IS PROVIDED “AS IS.” McGRAW-HILL EDUCATION AND ITS LICENSORS MAKE NO GUARANTEES OR WARRANTIESASTOTHEACCURACY,ADEQUACYORCOMPLETENESSOFORRESULTSTOBEOBTAINEDFROMUSINGTHEWORK, INCLUDING ANY INFORMATION THAT CAN BE ACCESSED THROUGH THE WORK VIA HYPERLINK OR OTHERWISE, AND EXPRESSLY DISCLAIM ANY WARRANTY, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO IMPLIED WARRANTIES OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE. McGraw-Hill Education and its licensors do not warrant or guarantee that the functions contained in the work will meet your requirements or that its operation will be uninterrupted or error free. Neither McGraw-Hill Education nor its licensors shall be liable to you or anyone else for any inaccuracy, error or omission, regardless of cause, in the work or for any damages resulting therefrom. McGraw-Hill Education has no responsibility for the content of any information accessed through the work. Under no circumstances shall McGraw-Hill Education and/or its licensors be liable for any indirect, incidental, special, punitive, consequential or similar damages that result from the use of or inability to use the work, even if any of them has been advised of the possibility of such damages. This limitation of liability shall apply to any claim or cause whatsoever whether such claim or cause arises in contract, tort or otherwise.
  • 6. Part 1 General Otolaryngology 1 Chapter 1 Syndromes and Eponyms 1 K.J. Lee Chapter 2 Obstructive Sleep Apnea 53 Brian W. Rotenberg Chapter 3 Laser and Radio requency Surgery 68 Natasha Pollak Chapter 4 Anesthesia or Head and Neck Surgery 75 Jessica Feinleib, K.J. Lee Chapter 5 Surgical Hemostasis and Clotting Mechanisms 103 John E. Godwin Chapter 6 Related Neurology and Neurosurgery 118 Daniel Prevedello, Ali O. Jamshidi Chapter 7 T e Chest or EN 137 Allan Rodrigues, K.J. Lee Chapter 8 Nutrition, Fluid, and Electrolytes 158 Marion Couch, Heather Herrington Chapter 9 Antimicrobial T erapy in Otolaryngology—Head and Neck Surgery 169 Subinoy Das Chapter 10 Pharmacology and T erapeutics 177 Joseph P. Roche, Carlos S. Ebert v Contents Contributors xi Pre ace xix Acknowledgments xx
  • 7. Chapter 11 HIV 189 Jef Y eung, Y vonne Chan Chapter 12 Granulomatous Diseases o the Head and Neck 202 Janet Chung, Amandeep S. Grewal, Y vonne Chan Part 2 Otology/Neurotology/Audiology 218 Chapter 13 Anatomy o the Ear 218 K.J. Lee, John C. Goddard Chapter 14 Audiology 241 Kathleen C. M. Campbell, James E. Peck Chapter 15 Electrical Response Audiometry 281 Paige M. Pastalove Chapter 16 Vestibular and Balance Disorders 295 Caroline Falls, Philip Lai, David Pothier, John Rutka Chapter 17 Congenital Hearing Loss 314 Seilesh Babu, K.J. Lee Chapter 18 innitus 340 John C. Goddard, T eodore R. McRackan Chapter 19 Hearing Rehabilitation: Surgical and Nonsurgical 345 Natasha Pollak Chapter 20 Cochlear Implants 355 Richard . Miyamoto Chapter 21 Facial Nerve Paralysis 363 Elizabeth H. oh, K.J. Lee Chapter 22 In ections o the emporal Bone 390 Bruce J. Gantz Chapter 23 Nonin ectious Disorders o the Ear 424 John C. Goddard, T eodore R. McRackan Chapter 24 umors o the emporal Bone 435 Bruce J. Gantz vi Contents
  • 8. Part 3 Rhinology 450 Chapter 25 Nasal Function and the Evaluation o aste/Smell 450 Jill Mazza, Andrew P. Lane Chapter 26 Paranasal Sinuses: Embryology, Anatomy, Endoscopic Diagnosis, and reatment 460 David W. Kennedy, John M. Lee Chapter 27 T e Nose: Acute and Chronic Sinusitis 491 Y vonne Chan Chapter 28 umors o the Paranasal Sinuses 510 Adam Zanation Chapter 29 Endoscopic Skull Base Surgery 521 Angela M. Donaldson, Vijay K. Anand Part 4 Head and Neck 543 Chapter 30 Salivary Gland Diseases 543 Wojciech Mydlarz, Patrick Ha, David W. Eisele Chapter 31 T e Oral Cavity, Pharynx, and Esophagus 564 David Eibling Chapter 32 Neck Spaces and Fascial Planes 585 Marion Boyd Gillespie Chapter 33 T yroid and Parathyroid Glands 606 Joseph Scharp , Gregory W. Randolph Chapter 34 Cysts and umors o the Jaw 641 Kris R. Jatana, Courtney Jatana Chapter 35 Carotid Body umors and Vascular Anomalies 656 James Netterville Chapter 36 NM Classi cation in Otolaryngology—Head and Neck Surgery 666 T omas G. akoudes Chapter 37 Malignant Melanoma o the Head and Neck 674 Randal S. Weber, T omas J. Ow Contents vii
  • 9. Chapter 38 umors o the Larynx 688 Benjamin L. Hodnett, Shilpa Renukuntla, Jonas . Johnson Chapter 39 Carcinoma o the Oral Cavity, Pharynx, and Esophagus 701 Debra Gonzalez, K. T omas Robbins Chapter 40 T e Role o Chemotherapy or Head and Neck Cancer 727 Krishna A. Rao Chapter 41 Radiation T erapy or Head and Neck Cancer 733 Zain Husain Chapter 42 umor Biology o Head and Neck Cancer 740 Natalia Issaeva, Wendell Y arbrough Chapter 43 Skull Base Surgery 746 Victoria Banuchi, Dennis H. Kraus Part 5 Laryngology 769 Chapter 44 T e Larynx 769 Gayle E. Woodson, CraigBerzo sky Part 6 Pediatrics 808 Chapter 45 Embryology o Cle s and Pouches 808 K.J. Lee, John C. Goddard Chapter 46 Cle Lip and Palate 826 Steven Goudy, David J. Crockett Chapter 47 Pediatric Otolaryngology: Head and Neck Surgery 846 Evan J. Propst, Robin . Cotton Part 7 Facial Plastic &Reconstructive Surgery 913 Chapter 48 Facial Plastic Surgery 913 Jamil Asaria, Susan L. an, Peter A. Adamson Chapter 49 Reconstructive Head and Neck Surgery 940 Oneida Arosarena viii Contents
  • 10. Chapter 50 Craniomaxillo acial rauma 960 Robert M. Kellman Chapter 51 Orbital Fractures 974 David E. E. Holck, Dimitrios Sismanis, Christopher M. DeBacker Chapter 52 Related Ophthalmology 987 K.J. Lee, Flora Levin Part 8 Allergy 993 Chapter 53 Immunology and Allergy 993 Jack H. Krouse Part 9 Review 1044 Chapter 54 Highlights and Pearls 1044 Pardis Javadi, Y vonne Chan, Subinoy Das, K.J. Lee, Ryan Scannell Index 1155 Contents ix
  • 12. Peter A. Adamson, MD, FRCSC, FACS [48] Pro essor and Head Division o Facial Plastic and Reconstructive Surgery Department o Otolaryngology—Head &Neck Surgery Sta Surgeon oronto General Hospital University Health Network Ontario, Canada Vijay K. Anand, MD, FACS [29] Clinical Pro essor Department o Otolaryngology—Head &Neck Surgery Weill Cornell Medical College Attending Surgeon New Y ork Presbyterian Hospital Weill Cornell Medical Center Consultant Surgeon Department o Surgery Memorial Sloan Kettering Cancer Center New Y ork, New Y ork Oneida Arosarena, MD [49] Associate Pro essor Head and Neck Institute emple University Philadelphia, Pennsylvania Jamil Asaria, MD, FRCSC [48] Director FACE Cosmetic Surgery Clinical Lecturer Division o Facial Plastic and Reconstructive Surgery Department o Otolaryngology—Head &Neck Surgery Universityo oronto Ontario, Canada Seilesh Babu, MD [17] Neurotologist/Skull Base Surgeon Chie Financial O cer Michigan Ear Institute Farmington Hills, Michigan Clinical Assistant Pro essor Department o Otolaryngology Wayne State University School o Medicine Detroit, Michigan Clinical Assistant Pro essor Department o Surgery William Beaumont Oakland University School o Medicine Rochester, Michigan Victoria Banuchi, MD, MPH [43] Assistant Pro essor Division o Otolaryngology Weill Cornell Medical Center New Y ork, New Y ork Craig Berzo sky, MD [44] Assistant Pro essor Otolaryngology New Y ork Medical College Laryngologist EN Faculty Practice New Y ork, New Y ork Kathleen C. M. Campbell, PhD [14] Distinguished Scholar and Pro essor Southern Illinois University School o Medicine Spring eld, Illinois xi Contributors
  • 13. Yvonne Chan, MD, FRCSC, MSc, HBSc[11, 12, 27, 54] Continuing Education & Pro essional Development Director Department o Otolaryngology—Head & Neck Surgery Assistant Pro essor University o oronto Ontario, Canada Janet Chung, BSc, MD, FRCSC [12] Lecturer Department o Otolaryngology—Head & Neck Surgery University o oronto Ontario, Canada Robin . Cotton, MD [47] Director, Aerodigestive and Esophageal Center Cincinnati Children’ s Hospital Pro essor University o Cincinnati College o Medicine Cincinnati, Ohio Marion Couch, MD, PhD, MBA, FACS [8] Pro essor and Chair Department o Otolaryngology—Head & Neck Surgery Physician Executive IU School o Medicine Indianapolis, Indiana David J. Crockett, MD [46] Pediatric Otolaryngology—Head & Neck Surgery Arizona Otolaryngology Consultants Section Vice Chie o Otolaryngology Phoenix Children’ s Hospital Phoenix, Arizona Subinoy Das, MD, FACS [9, 54] Medical Director USInstitute or Advanced Sinus Care and Research Columbus, Ohio Christopher M. DeBacker, MD, FACS [51] Assistant Clinical Pro essor Department o Ophthalmology University o exas Health Science Center at San Antonio San Antonio, exas Angela M. Donaldson, MD [29] Department o Otolaryngology—Head &Neck Surgery Atlanta Institute or EN Atlanta, Georgia Carlos S. Ebert, Jr. MD, MPH [10] Associate Pro essor Department o Otolaryngology—Head &Neck Surgery University o North Carolina Chapel Hill, North Carolina David Eibling, MD, FACS [31] Pro essor o Otolaryngology Department o Otolaryngology—Head &Neck Surgery University o Pittsburgh School o Medicine Pittsburgh, Pennsylvania David W. Eisele, MD, FACS [30] Andelot Pro essor and Director Department o Otolaryngology—Head & Neck Surgery Johns Hopkins University School o Medicine Baltimore, Maryland Carolyn Falls, MClSc, Reg. CASLPO [16] Manager, Centre or Advanced Hearing and Balance Manager, Munk Hearing Centre Lecturer, University o oronto, Faculty o Medicine oronto General Hospital, University Health Network Ontario, Canada Jessica Feinleib MD, PhD [4] Assistant Pro essor Department o Anesthesiology Y ale School o Medicine West Haven, Connecticut xii Contributors
  • 14. Bruce J. Gantz, MD [22, 24] Pro essor and Head University o Iowa Department o Otolaryngology—Head &Neck Surgery University o Iowa Hospitals and Clinics Iowa City, Iowa Marion Boyd Gillespie, MD, Msc [32] Pro essor Department o Otolaryngology—Head & Neck Surgery Medical University o South Carolina Charleston, South Carolina John C. Goddard, MD [13, 18, 23, 45] Otology, Neurotology, and Skull Base Surgery Department o Otolaryngology—Head &Neck Surgery Northwest Permanente, PC Portland, Oregon John E. Godwin, MD, MS [5] Physician Program Leader, Hematologic Malignancies Providence Cancer Center Oncology & Hematology Care Clinic - Eastside Robert W. Franz Cancer Research Center in the Earle A Chiles Research Institute Portland, Oregon Debra Gonzalez, MD [39] Assistant Pro essor Department o Otolaryngology Washington University School o Medicine St. Louis, Missouri Steven Goudy, MD [46] Director o Pediatric Otolaryngology Emory University School o Medicine Atlanta, Georgia Amandeep S. Grewal, MD, FRCSC [12] Lecturer Department o Otolaryngology—Head &Neck Surgery University o oronto Ontario, Canada Patrick Ha, MD, FACS [30] Associate Pro essor Johns Hopkins Department o Otolaryngology Johns Hopkins Head and Neck Surgery Baltimore, Maryland Heather Herrington, MD [8] Assistant Pro essor o Otolaryngology Head & Neck Surgery University o Vermont Burlington, Vermont Benjamin L. Hodnett [38] Fellow in Head and Neck Oncology & Microvascular Reconstruction Department o Otorhinolaryngology—Head & Neck Surgery University o Pennsylvania Philadelphia, Pennsylvania David E. E. Holck, MD, FACS [51] EyePlas X Associate Clinical Pro essor Department o Surgery T e University o exas at San Antonio, Health Sciences Center San Antonio, exas Zain Husain, MD [41] Assistant Pro essor Department o T erapeutic Radiology Y ale University School o Medicine West Haven, Connecticut Natalia Issaeva, PhD [42] Department o Surgery, Otolaryngology Y ale School o Medicine Y ale Cancer Center New Haven, Connecticut Ali O. Jamshidi, MD [6] Department o Neurological Surgery T e Ohio State University Wexner Columbus, Ohio Contributors xiii
  • 15. Courtney A. Jatana, DDS [34] Assistant Pro essor Division o Oral and Maxillo acial Surgery and Anesthesiology T e Ohio State University College o Dentistry Columbus, Ohio Kris R. Jatana, MD, FAAP, FACS [34] Associate Pro essor-Clinical Department o Otolaryngology—Head & Neck Surgery T e Ohio State University and Nationwide Children’ s Hospital Columbus, Ohio Pardis Javadi, MD [54] Assistant Pro essor o Otolaryngology, Head & Neck Surgery Southern Illinois University Spring eld, Illinois Jonas . Johnson, MD, FACS [38] Distinguished Service Pro essor o Otolaryngology T e Dr. Eugene N. Myers Pro essor and Chairman o Otolaryngology University o Pittsburgh School o Medicine Pittsburgh, Pennsylvania Robert M. Kellman, MD [50] Pro essor and Chair Department o Otolaryngology and Communication Sciences SUNYUpstate Medical University Syracuse, New Y ork David W. Kennedy, MD [26] Rhinology Pro essor Perelman School o Medicine University o Pennsylvania Philadelphia, Pennsylvania Dennis H. Kraus, MD, FACS [43] Director, New Y ork Head & Neck Institute Center or Head & Neck Oncology NS-LIJ Cancer Institute Pro essor o Otolaryngology Ho stra North Shore-LIJ School o Medicine Hempstead, New Y ork Jack H. Krouse, MD, PhD, MBA [53] Pro essor and Chairman Department o Otolaryngology—Head &Neck Surgery Director, emple Head and Neck Institute Associate Dean or Graduate Medical Education emple University School o Medicine Philadelphia, Pennsylvania Andrew P. Lane, MD [25] Pro essor Department o Otolaryngology—Head &Neck Surgery Director Division o Rhinology and Sinus Surgery Johns Hopkins School o Medicine Baltimore, Maryland John M. Lee, MD, FRCSC, MSc [26] Assistant Pro essor Department o Otolaryngology—Head & Neck Surgery University o oronto St. Michael’ s Hospital Ontario, Canada K. J. Lee, MD, FACS [1, 4, 7, 13, 17, 21, 45, 52, 54] Associate Clinical Pro essor Y ale University School o Medicine Adjunct Associate Clinical Pro essor Ho stra University School o Medicine Emeritus Chie o Otolaryngology Hospital o St. Raphael Chie Medical and Experience O cer IQ-EQ Systems Intelligent Cloud and Advisory Group New Haven, Connecticut xiv Contributors
  • 16. Flora Levin, MD, FACS [52] Clinical Assistant Pro essor Y ale School o Medicine New Haven, Connecticut Jill Mazza, MD [25] Instructor Department o Otolaryngology—Head &Neck Surgery Johns Hopkins University School o Medicine Baltimore, Maryland T eodore R. McRackan, MD [18, 23] Assistant Pro essor Otolaryngology Head & Neck Surgery Division o Neurotology Medical University o South Carolina Charleston, South Carolina Richard . Miyamoto, MD, FACS, FAAP [20] Arilla Spence DeVault Pro essor Emeritus Department o Otolaryngology—Head &Neck Surgery Indiana University School o Medicine Indianapolis, Indiana Wojciech Mydlarz, MD [30] Assistant Pro essor Department o Otolaryngology—Head &Neck Surgery Johns Hopkins University School o Medicine Baltimore, Maryland James Netterville, MD [35] Mark C. Smith Pro essor Director o Head and Neck Oncologic Services Executive Vice Chair Department o Otolaryngology Vanderbilt University Medical Center Nashville, ennessee T omas J. Ow, MD, FACS [37] Assistant Pro essor Department o Otorhinolaryngology—Head & Neck Surgery Department o Pathology Monte ore Medical Center Albert Einstein College o Medicine Bronx, New Y ork Paige M. Pastalove, AuD, CCC-A, FAAA [15] Director Division o Audiology Assistant Director emple Head and Neck Institute Instructor emple University School o Medicine Philadelphia, Pennsylvania James E. Peck, PhD [14] Associate Pro essor Emeritus Division o Audiology Department o Otolaryngology and Communicative Sciences University o Mississippi Medical Center Jackson, Mississippi Natasha Pollak, MD [19] Associate Pro essor Department o Otolaryngology—Head &Neck Surgery emple University School o Medicine Associate Director emple Head & Neck Institute Philadelphia, Pennsylvania Dr. David Pothier, MSc, MBChB, FRCS (ORL-HNS) [16] Sta Neurotologist Assistant Pro essor Department o Otolaryngology University o oronto Head and Neck Surgery oronto General Hospital University Health Network Ontario, Canada Contributors xv
  • 17. Daniel Prevedello, MD [6] Associate Pro essor o Neurological Surgery Department o Neurological Surgery T e Ohio State University, Wexner Medical Center Columbus, Ohio Evan J. Propst, MD, MSc, FRCSC [47] Assistant Pro essor Department o Otolaryngology—Head & Neck Surgery Hospital or Sick Children University o oronto Ontario, Canada Gregory W. Randolph, MD, FACS, FACE[33] Director o the General and T yroid-Parathyroid Endocrine Surgical Divisions Mass Eye and Ear In rmary Member Endocrine Surgery Service Mass General Hospital Boston, Massachusetts Krishna A. Rao, MD, PhD [40] Associate Pro essor Division o Hematology/Medical Oncology Departments o Internal Medicine, Medical Microbiology, and Simmons Cancer Institute Southern Illinois University School o Medicine Spring eld, Illinois Shilpa Renukuntla, MD [38] Assistant Pro essor General Otolaryngology University o South Florida ampa, Florida K. T omas Robbins, MD, FRCSC, FACS [39] Pro essor and Executive Director Emeritus Simmons Cancer Institute at SIU Southern Illinois University School o Medicine Spring eld, Illinois Joseph P. Roche, MD [10] Neurotology Fellow Otology, Neurotology & Lateral Skull Base Surgery Department o Otolaryngology—Head & Neck Surgery T e University o Iowa Hospitals and Clinics Iowa City, Iowa Allan Rodrigues, MD [7] Attending Physician Pulmonary and Critical Care Medicine Hospital o Saint Raphael New Haven, Connecticut Dr. Brian W. Rotenberg, MD, MPH, FRCSC [2] Associate Pro essor Director o Sleep Surgery Program Sinonasal & Skull Base Surgery Dept o Otolaryngology—Head & Neck Surgery Western University, London Ontario, Canada John Rutka, MD, FRCSC [16] Pro essor o Otolaryngology—Head & Neck Surgery University o oronto Sta Otologist/Neurotologist University Health Network oronto General Hospital Ontario, Canada Ryan Scannell, MD [54] New England EN & Facial Plastic Surgery North Andover, Massachusetts Joseph Scharp , MD [33] Sta , Head and Neck Institute Cleveland Clinic Foundation Associate Pro essor o Surgery CCLCM Cleveland, Ohio xvi Contributors
  • 18. Dimitrios Sismanis, MD [51] Private Practice Oculoplastic and Reconstructive Surgery Richmond, Virginia Susan L. an, BSc(Hon), MD, FRCSC [48] Facial Plastic and Reconstructive Surgery Fellow Art o Facial Surgery University o oronto Ontario, Canada T omas G. akoudes, MD [36] Clinical Instructor in Surgery Department o Surgery Division o Otolaryngology—Head & Neck Surgery Y ale University School o Medicine New Haven, Connecticut Elizabeth H. oh, MD, FACS [21] Director, Balance and Hearing Implant Center Lahey Hospital & Medical Center Burlington, Massachusetts Randal S. Weber, MD [37] Pro essor and Chairman Department o Head & Neck Surgery John Brooks Williams and Elizabeth Williams Distinguished University Chair in Cancer Medicine Pro essor o Radiation Oncology University o exas MD Anderson Cancer Center Houston, exas Gayle E. Woodson, MD, FACS [44] Pro essor Emeritus Southern Illinois University School o Medicine Spring eld, Illinois Wendell Yarbrough, MD, FACS, MMHC [42] Pro essor & Chie , Otolaryngology Y ale Co-Director, Molecular Virology Program Y ale Cancer Center Director, Head and Neck Disease Center, Smilow Cancer Hospital New Haven, Connecticut Jef Yeung, MD [11] Department o Otolaryngology—Head & Neck Surgery University o Ottawa Ottawa, Ontario Adam Zanation, MD [28] Associate Pro essor Director o Practice Development Department o Otolaryngology—Head & Neck Surgery Director o the Skull Base Surgery Fellowship Co-Director o the Advanced Rhinology and Skull Base Surgery Fellowship Division o Head & Neck Oncology Division o Rhinology/Sinus Surgery Skull Base Surgery Chapel Hill, North Carolina Contributors xvii
  • 20. Pre ace It is a privilege and great pleasure or me to introduce two excellent editors or the 11th edition o K. J. Lee’ s Essential Otolaryngology—Head and Neck Surgery, Dr. Yvonne Chan and Dr. John Goddard. T e rst edition o Essential Otolaryngology, published in 1973, was based predomi- nantly on my own notes that had helped me through my Board examination. Because o the enthusiastic reception among practicing clinicians and the universal acceptance o this book among residents in the United States and abroad, I have ound keeping this book cur- rent a most satis ying endeavor. Dr. Anthony Maniglia arranged or the 6th edition to be translated into Spanish by Drs. Blanco, Cabezas, Cobo, Duque, Reyes, and Santamaria. T e 7th edition was also translated into Spanish by Drs. Rendón, Araiza, Pastrana, Enriquez, and González. T e 8th edition was translated into urkish by Pro essor Metin Onerci and Dr. Hakan Korkmaz and translated into Chinese by Pro essor Chen and her colleagues. A previous edition was also translated into urkish by Pro essor Vecdet Kayhan, Doc. Dr. ay un Sunay, and Uz. Dr. Cetin Kaleli. It has also been translated into other languages without our knowledge. Although the original material still orms a signi cant portion o the book, Dr. Chan and Dr. Goddard have assembled a broad panel o authorities in several subspecialities to present additional in ormation, which is considered the most current in their areas o ex- pertise. Neither a complete review o otolaryngology nor a comprehensive textbook on the subject, K.J. Lee’ sEssential Otolaryngology, 11th edition, remains true to its original intent— to serve as a guide or Board preparation as well as a practical and concise re erence text ref ecting contemporary concepts in clinical otolaryngology. Senior medical students, resi- dents, and ellows; Board-eligible, Board-certi ed otolaryngologists; primary care physi- cians; and specialists in other elds will all nd this edition to be an even more use ul and indispensable resource. I thank Dr. Chan and Dr. Goddard. K. J. Lee xix
  • 21. For this 11th edition, I want to thank our two editors, Dr. Yvonne Chan and Dr. John God- dard, who have done a tremendous job. Particularly, I would like to thank the one person who has been by my side even be ore the appearance o the very 1st edition o this book in 1973, my lovely and devoted wi e o 49 years, Linda. Our three sons, Ken, Lloyd, and Mark, used to help with editorial assistance, but are now busy with their respective pro essions, law, private equity, and movie production; Jeannie Grenier, my nurse or over 31 years and editorial associate, worked hard on previous editions. I thank the McGraw-Hill sta or their diligence, great work, and congeniality. I thank myparents or the gene and nurturing environment that allowed me to develop a passion or hard work, a sense or organization, and an ability to distill complex materials into simple acts. T ese are the three cornerstones that have shaped this book rom the 1st edition. I am thrilled to see these traits are also inherent in Yvonne and John. And to those newcomers at the rontiers o medical science who have contributed to this edition, I also extend mythanks or taking the time to share their own expertise and, by doing so, helping to keep this book up-to-date. K. J. Lee Acknowledgments xx
  • 22. 1 Chapter 1 Syndromes and Eponyms Syndromes and Diseases Adult Respiratory Distress Syndrome Adult respiratory distress syndrome (ARDS) is characterized by a delay in onset (12-24 hours) ollowing injury, shock, and/or success ul resuscitative e ort. Septic shock, extrathoracic trauma, central nervous system (CNS) pathology, at embolism, oxygen toxicity, head and acial injuries, and massive blood trans usions can lead to ARDS. It is characterized by hypoxia and pulmonary in ltrates secondary to increased pulmonary vascular permeability, microvascular hemorrhage, or both. Aide Syndrome Aide syndrome is characterized by decreased pupillary reaction and deep tendon re ex. T e etiology is unknown. Alagille Syndrome Alagille syndrome is marked by cardiovascular abnormalities, characteristic acial appearance, chronic cholestasis, growth retardation, hypogonadism, mental retardation, vertebral arch de ect, temporal bone anomalies in the cochlear aqueduct, ossicles, semicircular canals (SCCs), and subarcuate ossa. Liver transplantation is a possible treatment. Part 1 General Otolaryngology
  • 23. 2 Part 1: General Otolaryngology Albers-Schönberg Disease A genetic disorder also known as osteopetrosis, Albers-Schönberg disease results in progres- sive increase in the density (but also increase in weakness) o the bones in the skeletal system. Vascular nutrition to a ected bones is also decreased by this disease. Broken down into three categories, there is osteopetrosis with precocious mani estations, osteopetrosis with delayed mani estations, and pyknodysostosis. In the mandible long-term antibiotic therapy, multiple debridements, sequestrectomies, or even resection are possible treatments. Albright Syndrome Polyostotic brous dysplasia usually mani ests early in li e as multicentric lesions involving the long bones and bones o the ace and skull with scattered skin lesions similar to melanotic ca é au lait spots and precocious pubertyin emale patients. Frequently, there is an elevation o serum alkaline phosphatase as well as endocrine abnormalities. Aldrich Syndrome T rombocytopenia, eczema, and recurrent in ections occur during the rst year o li e. It is inherited through a sex-linked recessive gene. T e bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes are normal in number. Amalric Syndrome Granular macular pigment epitheliopathy ( oveal dystrophy) is associated with sensorineural hearing loss. Visual acuity is usually normal. Amalric syndrome may be a genetic disorder, or it may be the result o an intrauterine rubella in ection. Aortic Arch Syndrome See akayasu Disease. Apert Syndrome Apert syndrome is not to be con used with P ei er syndrome, which has di erent types o hand mal ormations. Ascher Syndrome Ascher syndrome is a combination o blepharochalasis, double lip, and goiter. Auriculotemporal Syndrome (Frey Syndrome) Auriculotemporal syndrome is characterized by localized ushing and sweating o the ear and cheek region in response to eating. It usually occurs a er parotidectomy. It is assumed that the parasympathetic bers o the ninth nerve innervate the sweat glands a er parotidectomy. It has been estimated that 20%o the parotidectomies in children result in this disorder. Avellis Syndrome Unilateral paralysis o the larynx and velum palati, with contralateral loss o pain and tempera- ture sensitivity in the parts below the larynx characterize Avellis syndrome. T e syndrome is caused by involvement o the nucleus ambiguus or the vagus nerve along with the cranial por- tion o the ninth nerve.
  • 24. Chapter 1: Syndromes and Eponyms 3 Babinski-Nageotte Syndrome Babinski-Nageotte syndrome is caused by multiple or scattered lesions, chie y in the distribu- tion o the vertebral artery. Ipsilateral paralysis o the so palate, larynx, pharynx, and sometimes tongue occurs. T ere is also ipsilateral loss o taste on the posterior third o the tongue, loss o pain and temperature sensation around the ace, and cerebellar asynergia. Horner syndrome with con- tralateral spastic hemiplegia and loss o proprioceptive and tactile sensation may also be present. Baelz Syndrome Painless papules at the openings o the ducts o the mucous glands o the lips with ree exudation o mucus are characteristic. Congenital and amilial orms are precancerous. Acquired orms are benign and caused by irritating substances. Bannwarth Syndrome (Facial Palsy in Lymphocytic Meningoradiculitis) A relatively benign orm o acute unilateral or bilateral acial palsy that is associated with lym- phocytic reactions and an increased protein level in the cerebrospinal uid (CSF) with mini- mal, i any, meningeal symptoms is known as Bannwarth syndrome. Neuralgic or radicular pain without acial palsy and unilateral or bilateral acial palsy o acute onset are symptoms o this syndrome. A virus has been suggested as a possible etiology. Males are more o en a ected than emales, with the greatest number o cases occurring in the months o August and September. Barany Syndrome Barany syndrome is a combination o unilateral headache in the back o the head, periodic ipsilateral dea ness (alternating with periods o una ected hearing), vertigo, and tinnitus. T e syndrome complex may be corrected by induced nystagmus. Barclay-Baron Disease Vallecular dysphagia is present. Barre-Lieou Syndrome Occipital headache, vertigo, tinnitus, vasomotor disorders, and acial spasm due to irritation o the sympathetic plexus around the vertebral artery in rheumatic disorders o the cervical spine are characteristic. It is also known as cervical migraine. Barrett Syndrome Barrett syndrome is characterized by esophagitis due to change in the epithelium o the esophagus. Barsony-Polgar Syndrome A di use esophageal spasm, caused by disruption o the peristaltic waves by an irregular con- traction resulting in dysphagia and regurgitation, is evidence o this syndrome. It most com- monly a ects excitable elderly persons. Basal Cell Nevoid Syndrome T is amilial syndrome, non–sex-linked and autosomal dominant with high penetrance and variable expressivity, mani ests early in li e. It appears as multiple nevoid basal cell epitheliomas o the skin, cysts o the jaw, abnormal ribs and metacarpal bones, rontal bossing, and dorsal scoliosis. Endocrine abnormalities have been reported and it has been associated with medul- loblastoma. T e cysts in the jaw, present only in the maxilla and mandible, are destructive to the bone. T e basal cell epitheliomas are excised as necessary, and the cysts in the jaw rarely recur a er complete enucleation.
  • 25. 4 Part 1: General Otolaryngology Bay ord-Autenrieth Dysphagia (Arkin Disease) Dysphagia lusoria is said to be secondary to esophageal compression rom an aberrant right subclavian artery. Beckwith Syndrome T is is a congenital disorder characterized by macroglossia, omphalocele, hypoglycemia, pan- creatic hyperplasia, noncystic renal hyperplasia, and cytomegaly o the etal adrenal cortex. Behçet Syndrome O unknown etiology, this disease runs a protracted course with periods o relapse and remis- sion. It mani ests as indolent ulcers o the mucous membrane and skin, stomatitis, as well as ano- genital ulceration, iritis, and conjunctivitis. No de nitive cure is known, though steroids help. Besnier-Boeck-Schaumann Syndrome Sarcoidosis is present. Bloom Syndrome An autosomal recessive growth disorder, Bloom syndrome is associated with chromosomal breaks and rearrangements.It isalso associated with an unusuallyhigh rateo cancer at an earlyage.Asso- ciated with acial erythema, growth retardation, immunode ciency, in ertility, and sun sensitivity, diagnosis is con rmed by chromosome analysis. Anomalous numbers o digits or teeth, asym- metric legs, heart mal ormation, hypopigmented spots in blacks, protruding ears, sacral dimple, simian line, and urethral or meatal narrowing are less common characteristics. For head and neck tumor patients, there is an increased chance o secondary and primary tumors. Bogorad Syndrome Bogorad syndrome is also known as the syndrome o crocodile tears, characterized by residual acial paralysis with pro use lacrimation during eating. It is caused by a misdirection o regener- ating autonomic bers to the lacrimal gland instead o to the salivary gland. Bonnet Syndrome Sudden trigeminal neuralgia accompanied by Horner syndrome and vasomotor disorders in the area supplied by the trigeminal nerve are mani estations o this syndrome. Bonnier Syndrome Bonnier syndrome is caused by a lesion o Deiters nucleus and its connection. Its symptoms include ocular disturbances (eg, paralysis o accommodation, nystagmus, diplopia), dea ness, nausea, thirst, and anorexia, as well as other symptoms re erable to involvement o the vagal centers, cranial nerves VIII, IX, X, and XI, and the lateral vestibular nucleus. It can simulate Ménière disease. Bourneville Syndrome Bourneville syndrome is a amilial disorder whose symptoms include polyps o the skin, harelip, moles, spina bi da, and microcephaly. Bowen Disease Bowen disease is a precancerous dermatosis characterized by the development o pinkish or brownish papules covered with a thickened horny layer. Histologically, it shows hyperchromatic acanthotic cells with multinucleated giant cells. Mitoses are requently observed.
  • 26. Chapter 1: Syndromes and Eponyms 5 Branchio-Oto-Renal Syndrome Branchio-Oto-Renal syndrome is an autosomal dominant disorder characterized by anoma- lies o the external, middle, and inner ear in association with preauricular tissues, branchial cle anomalies, and varying degrees o renal dysplasia, including aplasia. Many o the ollowing symptoms (but not necessarily all) are present: A. Conductive or mixed hearing loss B. Cup-shaped, anteverted pinnae with bilateral preauricular sinuses C. Bilateral branchial cle stulas or sinuses D. Renal dysplasia T is syndrome is among a group o syndromes characterized byde ormities associated with the rst and second branchial complexes. T e precise incidence o the disorder is unknown. Briquet Syndrome Briquet syndrome is characterized by a shortness o breath and aphonia due to hysteric paralysis o the diaphragm. Brissaud-Marie Syndrome Unilateral spasm o the tongue and lips o a hysteric nature are characteristic. Brown Syndrome Brown syndrome is a congenital or acquired abnormality o the superior oblique muscle tendon characterized by vertical diplopia and the inability to elevate the eye above midline or medial gaze. T is syndrome is o two types: true and simulated. rue Brown syndrome is always con- genital. Simulated Brown syndrome is either congenital or acquired. T e congenital simulated type may be caused by thickening o an area in the posterior tendon or by the rm attachment o the posterior sheath to the superior oblique tendon. T e acquired simulated type may be caused by in ammation extending rom the adjacent ethmoid cells to the posterior sheath and tendon, an orbital oor racture, rontal ethmoidal racture, crush racture o nasal bones, sinusitis, ron- tal sinus surgery, or surgical tucking o the superior oblique tendon. Brun Syndrome Vertigo, headache, vomiting, and visual disturbances due to an obstruction o CSF ow dur- ing positional changes o the head are seen. T e main causes o this syndrome include cysts and cysticercosis o the ourth ventricle as well as tumors o the midline cerebellum and third ventricle. Burckhardt Dermatitis Burckhardt dermatitis appears as an eruption o the external ear. It consists o red papules and vesicles that appear a er exposure to sunlight. T e rash usually resolves spontaneously. Ca ey Disease (In antile Cortical Hyperostosis) O amilial tendency, its onset is usuallyduring the rst year o li e. It is characterized byhyperir- ritability, ever, and hard nonpitting edema that overlie the cortical hyperostosis. Pathologically, it involves the loss o periosteum with acute in ammatory involvement o the intratrabecular bone and the overlying so tissue. reatment is supportive, consisting o steroids and antibiotics. T e prognosis is good. T e mandible is the most requently involved site.
  • 27. 6 Part 1: General Otolaryngology Caisson Disease T issymptom complexoccursin men and women who workin high air pressuresand arereturned too suddenly to normal atmospheric pressure. Similar symptoms may occur in iers when they suddenly ascend to high altitudes unprotected by counterpressure. It results rom the escape rom solution in the body uids o bubbles (mainly nitrogen) originally absorbed at higher pressure. Symptoms include headache; pain in the epigastrium, sinuses, and tooth sockets; itchy skin; ver- tigo; dyspnea; coughing; nausea; vomiting; and sometimes paralysis. Peripheral circulatory col- lapse may be present. Nitrogen bubbles have been ound in the white matter o the spinal cord. It also can injure the inner ear through necrosis o the organ o Corti. T ere is a question o rupture o the round window membrane; hemotympanum and eustachian tube obstruction may occur. Camptomelic Syndrome T e name is derived rom a Greek word meaning curvature of extremities. T e syndrome is characterized by dwar sm, cranio acial anomalies, and bowing o the tibia and emur, with mal- ormation o other bones. T e patient has cutaneous dimpling overlying the tibial bend. Respira- tory distress is common, and the patient has an early demise in the rst ew months o li e. In the otolaryngologic area, the patient exhibits a prominent orehead, at acies with a broad nasal bridge and low-set ears, cle palate, mandibular hypoplasia, and tracheobronchial malacia that contributes to the respiratory distress and neonatal death. Histologically, two temporal bone observations showed de ective endochondral ossi cation with no cartilage cells in the endo- chondral layer o the otic capsule. T e cochlea was shortened and attened, presenting a scalar communis. T e vestibule and the SCC were de ormed by bone invasion. T is syndrome is o en o unknown etiology, although some believe it is autosomal reces- sive. Others believe it may be due to an exogenous cause. T is syndrome is not to be con used with Pierre Robin syndrome, which presents with very similar clinical eatures. Cannon Nevus T is is an autosomal dominant disorder characterized by spongy white lesions o the oral and nasal mucosa. T e lesions are asymptomatic and may be ound rom the newborn period with increasing severity until adolescence. T e histologic picture is that o keratosis, acanthosis, and parakeratosis. Carcinoid Syndrome T e symptoms include episodic ushing, diarrhea, and ascites. T e tumor secretes serotonin. reatment is wide excision. T e tumor may give a positive dopa reaction. Carotid Sinus Syndrome (Charcot-Weiss-Barber Syndrome) When the carotid sinus is abnormallysensitive, slight pressure on it causes a marked all in blood pressure due to vasodilation and cardiac slowing. Symptoms include syncope, convulsions, and heart block. Castleman Disease Castleman disease was rst described by Castelman et al in 1954. It is a benign lymphoepithelial disease that is most o en mistaken or lymphoma. It is also known as localized nodal hyperpla- sia, angiomatous lymph node hyperplasia, lymphoid hamartoma, and giant lymph nodal hyper- plasia. Symptoms include tracheobronchial compression, such as cough, dyspnea, hemoptysis, or dysphagia. Masses in the neck are also not uncommon. T ere are two histologic types: the hyaline vascular type and the plasma cell type. Follicles in the hyaline vascular type are traversed
  • 28. Chapter 1: Syndromes and Eponyms 7 by radially oriented capillaries with plump endothelial cells and collagenous hyalinization sur- rounding the vessels. T e ollicles in the plasma cell type are normal in size without capillary proli eration or hyalinization. Intermediate orms exist but are rare. reatment entails complete excision o the mass. Etiology is unknown. Cavernous Sinus Syndrome T e cavernous sinus receives drainage rom the upper lip, nose, sinuses, nasopharynx, pharynx, and orbits. It drains into the in erior petrosal sinus, which in turn drains into the internal jugular vein. T e cavernous sinus syndrome is caused by thrombosis o the cavernous intracranial sinus, 80% o which is atal. T e symptoms include orbital pain (V1 ) with venous congestion o the retina, lids, and conjunctiva. T e eyes are proptosed with exophthalmos. T e patient has photo- phobia and involvement o nerves II, III, IV, and V1 . T e treatment o choice is anticoagulation and antibiotics. T e most common cause o cavernous sinus thrombosis is ethmoiditis. T e oph- thalmic vein and artery are involved as well. (T e nerves and veins are lateral to the cavernous sinus, and the internal carotid artery is medial to it.) Cestan-Chenais Syndrome Cestan-Chenais syndrome is caused by occlusion o the vertebral artery below the point o ori- gin o the posteroin erior cerebellar artery. T ere is paralysis o the so palate, pharynx, and lar- ynx. Ipsilateral cerebellar asynergia and Horner syndrome are also present. T ere is contralateral hemiplegia and diminished proprioception and tactile sensation. Champion-Cregah-Klein Syndrome T is is a amilial syndrome consisting o popliteal webbing, cle lip, cle palate, lower lip stula, syndactyly, onychodysplasia, and pes equinovarus. Chapple Syndrome T is disorder is seen in the newborn with unilateral acial weakness or paralysis in conjunction with comparable weakness or paralysis o the contralateral vocal cord, the muscles o degluti- tion, or both. T e disorder is secondary to lateral exion o the head in utero, which compresses the thyroid cartilage against the hyoid or cricoid cartilages or both, thereby injuring the recur- rent or superior laryngeal nerve, or both. Charcot-Marie- ooth Disease T is is a hereditary and degenerative disease that includes the olivopontocerebellar, cerebellopa- renchymal, and spinocerebellar disorders and the neuropathies. T is disease is characterized by chronic degeneration o the peripheral nerves and roots; and distal muscle atrophy in eet, legs, and hands. Deep tendon re exes are usually nil. It is also associated with hereditary cerebellar ataxia eatures, optic atrophy, and other cranial involvement. Some suggest that this disease is linked to auditory dys unction and that it is also linked to other CNSdys unctions. T is disease can be progressive, and it can also spontaneously arrest. CHARGESyndrome CHARGE syndrome (Coloboma o the eye, Heart de ects, Atresia o the choanae, Retardation o growth and development, Genital and/or urinaryabnormalities and Ear abnormalities and dea - ness) is a genetic pattern o birth de ects which occur one in 10,000 births worldwide, without any amily history. It involves heart de ects, breathing and swallowing di culties, hearing loss, vision loss, and balance problems.
  • 29. 8 Part 1: General Otolaryngology Major Features o CHARGESyndrome (Very Common in CHARGEand Relatively Rare in Other Conditions) Feature Includes Frequency (%) Coloboma o the eye Coloboma (sort o like a cle ) o the iris, retina, choroid, macula, or disc (not the eyelid); microphthalmos (small eye) or anophthal- mos (missing eye): Causes vision loss 80-90 Choanal atresia or stenosis T ey can be stenosed or atretic. It can be unilateral or bilateral, bony, or membranous. 50-60 Cranial nerve abnormality I—Missing or decreased sense o smell 90-100 IX/X—Swallowing di culties, aspiration 70-90 VII—Facial palsy (one side or both) 40 CHARGE outer ear Short, wide ear with little or no lobe, “snipped o ” helix, prominent antihelix which is discontinuous with tragus, triangular concha, decreased cartilage ( oppy), o en stick out, usually asymmetric > 50 CHARGE middle ear Mal ormed bones o the ossicles: Conductive hearingloss Common CHARGE inner ear Mondini de ect; small or absent semicircular canals: Balance prob- lems and sensorineural loss 90 Minor Characteristics o CHARGE:Signi cant, But More Di cult to Diagnose or Less Speci c to CHARGE Feature Includes Frequency (%) Heart de ects Can be any type, but many are complex, such as tetralogy o Fallot 75 Cle lip ± cle palate Cle lip with or without cle palate, cle palate, submucous cle palate 20 E stula Esophageal atresia, tracheoesophageal stula ( EF), H-shaped EF 15-20 Kidney abnormalities Small kidney, missing kidney, misplaced kidney, re ux 40 Genital abnormalities Males: small penis, undescended testes Females: small labia, small or missing uterus Both: lack o puberty without hormone intervention 50 25 90 Growth de ciency Growth hormone de ciency Other short stature 15 70 ypical CHARGE ace Square ace with broad prominent orehead, arched eyebrows, large eyes, occasional ptosis, prominent nasal bridge with square root, thick nostrils, prominent nasal columella, at mid ace, small mouth, occasional small chin, larger chin with age. Facial asym- metry even without acial palsy Palm crease Hockey-stick palmar crease 50 CHARGE behavior Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals > 50
  • 30. Chapter 1: Syndromes and Eponyms 9 Chédiak-Higashi Syndrome Chédiak-Higashi syndrome is the result o an autosomal recessive trait. It is characterized by albinism, photophobia, nystagmus, hepatosplenomegaly, anomalous cellular granules, and development o lymphoma. T ese patients usually die during childhood o ulminant in ections. Cle Lip Palate and Congenital Lip Fistulas T is syndrome is transmitted in an autosomal dominant manner with 80%penetrance;it occurs in 1 per 100,000 live births. Usually bilateral, symmetrically located depressions are noted on the vermilion portion o the lower lip and communicate with the underlying minor salivary glands. T e lip pits may be an isolated nding (33%) or be ound with cle lip palate (67% o cases). Associated anomalies o the extremities may include talipes equinovarus, syndactyly, and pop- liteal pterygia. Congenital lip pits have also been seen in association with the oral- acial-digital syndrome. Cockayne Syndrome Cockayne syndrome is autosomal recessive, progressive bilateral sensorineural hearing loss, associated with dwar sm, acial disharmony, microcephaly, mental de ciency, retinitis pigmen- tosa, optic atrophy, intracranial calci cation, and multiple dental caries. Patients succumb to respiratory or genitourinary in ection in the teens or twenties. Cogan Syndrome Nonsyphilitic interstitial keratitis and vestibuloauditory symptoms are characteristics o Cogan syndrome. Interstitial keratitis gives rise to rapid visual loss. Symptoms include episodic severe vertigo accompanied by tinnitus, spontaneous nystagmus, ataxia, and progressive sensorineural hearing loss. T ere are remissions and exacerbations. It is believed to be related to periarteritis nodosa. Eosinophilia has been reported in this entity. Pathologically, it is a degeneration o the vestibular and spiral ganglia with edema o the membranous cochlea, SCCs, and in ammation o the spiral ligament. reatment with steroids has been advocated. Cyclophosphamide and azathioprine have been used in addition to prednisone (40 mg daily). T is syndrome is not to be con used with Ménière disease despite vertiginous symp- toms and uctuating hearing loss. Vogt-Koyanagi-Harada syndrome is also similar but involves alopecia, poliosis, and exudative uveitis. Syphilis is also con used with this syndrome, but in syphilis, the interstitial keratitis is old and usually does not demonstrate active in ammatory changes. Syphilitic involvement o the cornea is o en centrally located. Follow-up treatment o patients must be thorough in order to detect more extensive involvement, such as systemic vasculitis or aortitis. Collet-Sicard Syndrome T e 9th, 10th, and 11th nerves are involved with normal sympathetic nerves. T e etiologyis usu- ally a meningioma or other lesion involving the nerves in the posterior cranial ossa. Conradi-Hünermann Syndrome T e most common variant o chondrodysplasia punctata; this syndrome is characterized by punctate epiphyseal calci cations. Clinical eatures include saddle nose de ormity, micromelia, rhizomelia, short stature, exion contractures, and dermatoses. T is syndrome is also known as chondrodystrophia epiphysialis punctata, stippled epiphysis disease, dysplasia epiphysialis punctata, chondroangiopathia calcarea punctata, and Conradi disease. Some cases point to spo- radic mutations and others to autosomal dominant patterns o inheritance. T e clinical eatures
  • 31. 10 Part 1: General Otolaryngology o this syndrome are so varied rom case to case that only a complete workup can exclude other versions o this syndrome. Costen Syndrome Costen syndrome is a temporomandibular joint ( MJ) abnormality, usually due to impaired bite and characterized by tinnitus, vertigo, and pain in the rontal, parietal, and occipital areas with a blocked eeling and pain in the ear. A er a care ul workup to rule out other abnormalities, the patient is treated with aspirin, heat, and slow exercise o the joint. An orthodontist may help the patient. T e MJ di ers rom other joints by the presence o avascular brous tissue covering the articulating sur aces with an interposed meniscus dividing the joint into upper and lower compartments. T e right and le MJs act as one unctional unit. T e condyle is made up o spongy bone with marrow and a growth center. T e condyle articulates with the glenoid ossa o the temporal bone (squamosa). T e squamotympanic ssure separates the ossa rom the tympanic bone. T e joint is a ginglymoarthrodial joint with hinge and transverse movements. T e key supporting ligament o the MJ is the temporomandibular ligament. T e boundaries o the glenoid ossa are as ollows: Anterior: Margins o the articular eminence Posterior: Squamosotympanic ssure Lateral: Zygomatic process o the temporal bone Medial: emporal spine T e MJ derives its nourishment rom the synovial membrane, which is richly vascularized and produces a mucinous-like substance. T e joint has a gliding motion between the meniscus and the temporal bone (upper compartment). It has a hinge motion between the disk and the condyle (lower compartment). It is innervated by the auriculotemporal nerve, masseter nerve, lateral pterygoid nerve, and temporal nerve. It is supplied by the super cial temporal artery and the anterior tympanic branch o the internal maxillary artery. T e lateral pterygoid muscle protracts the jaw, and the masseter, medial pterygoid, and temporalis muscles act as elevators. All these muscles are innervated by V3 . T e sphenomandibular and stylomandibular ligaments have no unction in MJ articulation. Cowden Syndrome T is is a amilial syndrome characterized by adenoid acies, hypoplasia o the mandible and maxilla, high-arched palate, hypoplasia o the so palate and uvula, microstomia, papillomatosis o the lips and pharynx, scrotal tongue, multiple thyroid adenomas, bilateral breast hypertrophy, pectus excavatum, and liver and CNSabnormalities. Creutz eldt-Jakob Disease Creutz eldt-Jakob disease is a rare spongi orm encephalopathy. Constitutional symptoms lead to mental retardation and movement disorder. Cri du Chat Syndrome Cri du Chat syndrome is a condition caused by a B group chromosome with a short arm; its symptoms are mental retardation, respiratory stridor, microcephaly, hypertelorism, midline oral cle s, and laryngomalacia with poor approximation o the posterior vocal cords. Crouzon Disease See Chapter 17.
  • 32. Chapter 1: Syndromes and Eponyms 11 Curtius Syndrome Curtius syndrome is a orm o hypertrophy that may involve a single small part o the body or an entire system (ie, muscular, nervous, or skeletal systems). It is also known as congenital hemi acial hypertrophy. Dandy Syndrome Oscillopsia or jumbling o the panorama common in patients a er bilateral labyrinthectomy is characteristic o this syndrome. T ese patients are unable to ocus while walking or moving. Darier Disease (Keratosis Follicularis) Autosomal dominant, this skin disorder o the external auditory canal is characterized by kera- totic debris in the canal. Some investigators have advocated the use o vitamin A or steroids. De’Jean Syndrome Exophthalmos, diplopia, superior maxillary pain, and numbness along the route o the trigemi- nal nerve are ound with lesions o the orbital oor in this syndrome. Déjérine Anterior Bulbar Syndrome T is syndrome is evidenced by thrombosis o the anterior spinal artery, resulting in either an alternating hypoglossal hemiplegia or an alternating hypoglossal hemianesthetic hemiplegia. Demarquay-Richter Syndrome Demarquay-Richter syndrome is a congenital oro acial disorder characterized by cle lip, cle palate, lower lip stulas, and progeria acies. De ective dentition, heart de ects, dwar sm, and nger abnormalities may be seen. DIDMOAD Syndrome DIDMOAD syndrome is an autosomal recessive disorder associating diabetes insipidus, dia- betes mellitus, optic atrophy, and dea ness. Diabetes mellitus is usually juvenile in onset and insulin dependent. T e diabetes insipidus has a varied time o onset and is vasopressin sensitive, indicative o degeneration o the hypothalamic cells or o the supraopticohypophyseal tract. T e hearing loss is sensorineural and progressive, and primarily a ects the higher tones. Urinary tract abnormalities ranging rom atonic bladder to hydronephrosis and hydroureter have been reported with this disorder. DiGeorge Syndrome Lischaneri reported three categories o this syndrome: A. T ird and ourth pharyngeal pouch syndrome, characterized by cardiovascular and cranio acial anomalies as well as abdominal visceral abnormalities B. DiGeorge syndrome (thymus agenesis) C. Partial DiGeorge syndrome (thymic hypoplasia in which the thymus gland weighs less than 2 g) T e patients have small mal ormed pinnae with narrow external auditorycanals and abnor- mal ossicles. T e patients also have shortened cochlea o the Mondini type as well as an absence o hair cells in the hook region, hypertelorism with nasal cle , shortened philtrum, and micro- gnathia. Other middle ear anomalies include an absence o stapedial muscle, hypoplastic acial nerve, and absent oval window. Most o the ndings are symmetrical.
  • 33. 12 Part 1: General Otolaryngology Down Syndrome See section on trisomy in Chapter 17. Dysphagia Lusoria Dysphagia lusoria is secondary to an abnormal right subclavian artery. T e right subclavian arises abnormally rom the thoracic aorta by passing behind or in ront o the esophagus, thus compressing it. Eagle Syndrome T e patient has elongation o the styloid process or ossi cation o the stylohyoid ligament caus- ing irritation o the trigeminal, acial, glossopharyngeal, and vagus nerves. Symptoms include recurrent nonspeci c throat discom ort, oreign body sensation, dysphagia, acial pain, and increased salivation. Carotidynia may result rom impingement o the styloid process on the carotid artery, producing regional tenderness or headaches. T e only e ective treatment or Eagle syndrome is surgical shortening o the styloid process. Ectodermal Dysplasia, Hidrotic See Chapter 17. Ectodermal Dysplasia, Hypohidrotic T is syndrome consists o hypodontia, hypotrichosis, and hypohidrosis. Principally, the struc- tures involved are o ectodermal origin. Eyelashes and especially eyebrows are entirely missing. Eczema and asthma are common. Aplasia o the eccrine sweat glands may lead to severe hyper- pyrexia. T e inheritance is X-linked recessive. 18q Syndrome T is syndrome consists o psychomotor retardation, hypotonia, short stature, microcephaly, hypoplastic mid ace, epicanthus, ophthalmologic abnormalities, cle palate, congenital heart disease, abnormalities o the genitalia, tapered ngers, aural atresia, and conductive hearing loss. Eisenlohr Syndrome Numbness and weakness in the extremities; paralysis o the lips, tongue, and palate; and dysar- thria are evidenced. Elschnig Syndrome Extension o the palpebral ssure laterally, displacement o the lateral canthus, ectropion o the lower lid, and lateral canthus are observed. Hypertelorism, cle palate, and cle lip are re- quently seen. Empty Sella Syndrome T e patient has an enlarged sella, giving the appearance o a pituitary tumor. An air encepha- logram shows an empty sella. T e syndrome consists o the abnormal extension into the sella turcica o an arachnoid diverticulum lled with CSF, displacing and compressing the pituitary gland. Four causal theories o this syndrome exist: (1) rupture o an intrasellar or parasellar cyst; (2) in arction o a pituitary adenoma; (3) pituitary hypertrophy and subsequent involution; and (4) the most common theory, the syndrome is due to CSF pressure through a congenitally de - cient sella diaphragm leading to the ormation o an intrasellar arachnoidocele. A trans-septal or trans-sphenoidal route to the sella is a treatment to consider.
  • 34. Chapter 1: Syndromes and Eponyms 13 T e primaryemptysella syndrome is due to congenital absence o the diaphragm sella, with gradual enlargement o the sella secondary to pulsations o the brain. Secondary empty sella syndrome may be due to necrosis o an existing pituitary tumor a er surgery, postirradiation directed at the pituitary, or pseudotumor cerebri. Face-Hand Syndrome Face-hand syndrome is a re ex sympathetic dystrophy that is seen a er a stroke or myocardial in arction. T ere may be edema and erythema o the involved parts along with persistent burning. Fanconi Anemia Syndrome Patients have aplastic anemia with skin pigmentation, skeletal de ormities, renal anomalies, and mental retardation. Death due to leukemia usually ensues within 2 years. T e disorder rarely occurs in adults. (A variant is congenital hypoplastic thrombocytopenia, which is inherited as an autosomal recessive trait.) It is characterized by spontaneous bleeding and other congenital anomalies. T e bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes vary rom decreased to absent. It is associated with unrepaired chromosome breakage. Congenital anomalies o the inner, middle, and external ear could be causes o the dea ness that accompanies this syndrome. Felty Syndrome Felty syndrome is a combination o leukopenia, arthritis, and enlarged lymph nodes and spleen. First and Second Branchial Arch Syndromes (Hemi acial Microsomia, Lateral Facial Dysplasia) T is disorder consists o a spectrum o cranio acial mal ormations characterized by asymmetric acies with unilateral abnormalities. T e mandible is small with hypoplastic or absent ramus and condyle. Aural atresia, hearing impairment, tissue tags rom the tragus to the oral commissure, coloboma o the upper eyelid, malar hypoplasia, and cle palate also may be present. Cardiovas- cular, renal, and nervous system abnormalities have been noted in association with this disorder. Fish Odor Syndrome Clinical symptoms o this peculiar syndrome consist o a sh odor emanating rom the mucus, particularly in the morning. A challenge test with either choline bitartrate or trimethylamine is diagnostic o this disease. Eating non–choline-containing oods usually helps. No long-term e ects are known. Fordyce Disease Fordyce disease is characterized by pseudocolloid o the lips, a condition marked by the pres- ence o numerous, small yellowish-white granules on the inner sur ace and vermilion border o the lips. Histologically, the lesions appear as ectopic sebaceous glands. Foster Kennedy Syndrome Patients with this disorder show ipsilateral optic atrophy and scotomas and contralateral pap- illedema occurring with tumors or other lesions o the rontal lobe or sphenoidal meningioma. Anosmia may be seen. Fothergill Disease T e combination o tic douloureux and anginose scarlatina is characteristic o this disease.
  • 35. 14 Part 1: General Otolaryngology Foville Syndrome Facial paralysis with ipsilateral paralysis o conjugate gaze and contralateral pyramidal hemiple- gia are diagnostic. innitus, dea ness, and vertigo may occur with in ranuclear involvement. Loss o taste o the anterior two-thirds o the tongue with decreased salivary and lacrimal secre- tions is seen with involvement o the nervus intermedius. Frey Syndrome In the normal person, the sweat glands are innervated by sympathetic nerve bers. A er paroti- dectomy, the auriculotemporal nerve sends its parasympathetic bers to innervate the sweat glands instead. T e incidence o Frey syndrome a er parotidectomy in children has been esti- mated to be about 20%. Also called preauricular gustatory sweating, parotidectomy is considered the most com- mon etiology. Friedreich Disease T e disease consists o acial hemihypertrophy involving the eyelids, cheeks, lips, acial bones, tongue,ears,and tonsils.It maybeseen aloneor in association with generalized hemihypertrophy. Garcin Syndrome Paralysis o cranial nerves III through X, usually unilateral or occasionally bilateral, is observed. It may be the result o invasion by neoplasm, granulomas, or in ections in the retropharyngeal space. Gard-Gignoux Syndrome Gard-Gignoux syndrome involves paralysis o the eleventh nerve and the tenth nerve below the nodose ganglion. T e cricothyroid unction and sensation are normal. T e symptoms include vocal cord paralysis and weakness o the trapezius and sternocleidomastoid muscles. Gardner Syndrome Gardner syndrome is an autosomal dominant disease whose symptoms include broma, oste- oma o the skull, mandible, maxilla, and long bones, with epidermoid inclusion cysts in the skin and polyps in the colon. T ese colonic polyps have a marked tendency toward malignant degeneration. Gargoylism (Hurler Syndrome) See Chapter 17. Gaucher Disease As an autosomally recessive inherited disorder o lipid metabolism, this syndrome results in a decrease in activity o the glucocerebrosidase. T is leads to an increased accumulation o glu- cocerebrosides, particularly in the retroendothelial system. T ere are three classi cations o the disease: (1) the chronic non-neuronopathic orm, characterized by joint pain, aseptic necrosis, pathologic ractures, hepatosplenomegaly, thrombocytopenia, anemia, and leukopenia; (2) the acute neuronopathic Gaucher disease (in antile orm), causing increased neurologic complica- tions that o en end in death be ore the rst 2 years o li e; and (3) the juvenile and less severe orms than the in antile orm.
  • 36. Chapter 1: Syndromes and Eponyms 15 Gerlier Disease With the presence o vertigo and kubisagari, it is observed among cowherds. It is marked by pain in the head and neck with visual disturbances, ptosis, and generalized weakness o the muscles. Giant Apical Air Cell Syndrome Giant apical air cell syndrome, rst described in 1982, consists o giant apical air cells, spontane- ous CSF rhinorrhea, and recurrent meningitis. It is caused by the constant pounding o the brain against the dura overlying the giant apical air cell, which leads to dural rupture and CSF leak. Gilles de la ourette Syndrome Characterized by chorea, coprolalia, and tics o the ace and extremities, it a ects children (usually boys 5-10 years old). Repetitive acial grimacing, blepharospasms, and arm and leg contractions may be present. Compulsive grunting noises or hiccupping subsequently become expressions o rank obscenities. Goldenhar Syndrome A rare, nonhereditary congenital variant o hemi acial microsomia, Goldenhar syndrome is a congenital syndrome o the rst and second arch. It is characterized by underdevelopment o cranio acial structures, vertebral mal ormations, and cardiac dys unction. Clinical eatures o this syndrome are malar and maxillary hypoplasia, poor ormation o external auditory canal, supernumerary ear tags and antetragal pits, orbit, enlarged mouths, renal anomalies, and miss- ing growth centers in the condyle, causing delayed eruption o teeth and teeth crowding. Intel- ligence is usually normal or mildly retarded. Maxillo acial reconstruction in young patients demands consideration o uture growth and development. It is also recommended or psy- chologic reasons as well as reasons involving the proper expansion o the skin that will later aid in urther reconstruction. T is syndrome is not to be con used with reacher Collins, Berry, or Franceschetti-Zwahlen-Klein syndromes. T ese tend to show well-de ned genetic patterns (irregular but dominant), whereas Goldenhar syndrome does not. Goodwin umor (Benign Lymphoepithelial Lesion) T is syndrome is characterized by in ammatory cells, lymphocytes, plasma cells, and reticular cells. Gradenigo Syndrome Gradenigo syndrome is due to an extradural abscess involving the petrous bone. T e symptoms are suppurative otitis, pain in the eye and temporal area, abducens paralysis, and diplopia. Grisel Syndrome Grisel syndrome, also known as nasopharyngeal torticollis, is the subluxation o the atlantoaxial joint and is usually associated with children. It is associated with pharyngitis, nasopharyngitis, adenotonsillitis, tonsillar abscess, parotitis, cervical abscess, and otitis media. T is syndrome has been known to occur a er nasal cavity in ammation, tonsillectomy, adenoidectomy, mastoidec- tomy, choanal atresia repair, and excisions o a parapharyngeal rhabdomyosarcoma. Proposals or etiology include overdistention o the atlantoaxial joint ligaments by e usion, rupture o the transverse ligament, excessive passive rotation during general anesthesia, uncoordinated re ex action o the deep cervical muscles, spasm o the prevertebral muscles, ligamentous relaxation rom decalci cation o the vertebrae, and weak lateral ligaments. Clinical eatures include spon- taneous torticollis in a child, a exed and rotated head with limited range o motion, at ace,
  • 37. 16 Part 1: General Otolaryngology and Sudeck sign (displacement o the spine o the axis to the same side as the head is turned). reatment includes skeletal skull traction under uoroscopic control to realign the odontoid process within the transverse ligament sling, ollowed by 6 to 12 weeks o immobilization. imely treatment is usually success ul. Guillain-Barré Syndrome Guillain-Barré syndrome is in ectious polyneuritis o unknown etiology (“perhaps” viral) caus- ing marked paresthesias o the limbs, muscular weakness, or a accid paralysis. CSF protein is increased without an increase in cell count. Hallermann-Strei Syndrome Hallermann-Strei syndrome consists o dyscephaly, parrot nose, mandibular hypoplasia, pro- portionate nanism; hypotrichosis o scalp, brows, and cilia; and bilateral congenital cataracts. Most patients exhibit nystagmus or strabismus. T ere is no demonstrable genetic basis. Hanhart Syndrome A orm o acial dysmorphia, Hanhart syndrome is characterized by (1) bird-like pro le o ace caused by micrognathia, (2) opisthodontia, (3) peromelia, (4) small growth, (5) normal intelli- gence, (6) branchial arch de ormity resulting in conductive hearing loss, (7) tongue de ormities and o en a small jaw, and (8) possibly some limb de ects as well. Ear surgery should be care ully considered because o the abnormal course o the acial nerve due to this syndrome. Heer ordt Syndrome or Disease In Heer ordt syndrome, the patient develops uveoparotid ever. Heer ordt syndrome is a orm o sarcoidosis (see Chapter 12). Hick Syndrome Hick syndrome is a rare condition characterized by a sensory disorder o the lower extremities, resulting in per orating eet and by ulcers that are associated with progressive dea ness due to atrophy o the cochlear and vestibular ganglia. Hippel-Lindau Disease Hippel-Lindau disease consists o angioma o the cerebellum, usually cystic, associated with angioma o the retina and polycystic kidneys. Hollander Syndrome With Hollander syndrome, there is appearance o a goiter during the third decade o li e related to a partialde ect in the couplingmechanism in thyroxine biosynthesis. Dea nessdue to cochlear abnormalities is usually related to this. Homocystinuria Homocystinuria is a recessive hereditary syndrome secondary to a de ect in methionine metab- olism with resultant homocystinemia, mental retardation, and sensorineural hearing loss. Horner Syndrome T e presenting symptoms o Horner syndrome are ptosis, miosis, anhidrosis, and enophthalmos due to paralysis o the cervical sympathetic nerves.
  • 38. Chapter 1: Syndromes and Eponyms 17 Horton Neuralgia Patients have unilateral headaches centered behind or close to the eye accompanied or preceded by ipsilateral nasal congestion, su usion o the eye, increased lacrimation and acial redness, and swelling. Hunt Syndrome A. Cerebellar tumor, an intention tremor that begins in one extremity gradually increas- ing in intensity and subsequently involving other parts o the body B. Facial paralysis, otalgia, and aural herpes due to disease o both motor and sensory bers o the seventh nerve C. A orm o juvenile paralysis agitans associated with primary atrophy o the pallidal system Hunter Syndrome A hereditary and sex-linked disorder, this incurable syndrome involves multiple organ systems through mucopolysaccharide in ltration. Death, usually by the second decade o li e, is o en caused by an in ltrative cardiomyopathy and valvular disease leading to heart ailure. Physi- cal characteristics include prominent supraorbital ridges, large attened nose with ared nares, low-set ears, progressive corneal opacities, generous jowls, patulous lips and prognathism, short neck,abdominalprotuberance,hirsutism,short stature,extensiveosteoarthritis(especiallyin the hips, shoulders, elbows, and hands), MJarthritis, pseudopapilledema, and low-pressure hydro- cephalus. Chondroitin sul ate B and heparitin in urine, mental retardation, beta-galactoside de ciency, and hepatosplenomegaly are also eatures o this syndrome. T ere is cerebral storage o three gangliosides: GM1 , GM2 , and GM3 . Compressive myelopathy may result rom vertebral dislocation. High spinal cord injury is a great complication in surgery. Neurologic development is o en slowed or never acquired. Abdominal abnormalities, respiratory in ections, and cardio- vascular troubles plague the patient. Immotile Cilia Syndrome T is syndrome appears to be a congenital de ect in the ultrastructure o cilia that renders them incapable o movement. Both respiratory tract cilia and sperm are involved. T e clinical picture includes bronchiectasis, sinusitis, male sterility, situs inversus, and otitis media. Histologically, there is a complete or partial absence o dynein arms, which are believed to be essential or cilia movement and sperm tail movement. Also no cilia movements were observed in the mucosa o the middle ear and the nasopharynx. Inversed Jaw-Winking Syndrome When there are supranuclear lesions o the h nerve, touching the cornea may produce a brisk movement o the mandible to the opposite side. Jackson Syndrome Cranial nerves X, XI, and XII are a ected by nuclear or radicular lesion. T ere is ipsilateral ac- cid paralysis o the so palate, pharynx, and larynx with weakness and atrophy o the sternoclei- domastoid and trapezius muscles and muscles o the tongue. Jacod Syndrome Jacod syndrome consists o total ophthalmoplegia, optic tract lesions with unilateral amaurosis, and trigeminal neuralgia. It is caused by a middle cranial ossa tumor involving the second through sixth cranial nerves.
  • 39. 18 Part 1: General Otolaryngology Job Syndrome Job syndrome is one o the groups o hyperimmunoglobulin E (hyper-IgE) syndromes that are associated with de ective chemotaxis. T e clinical picture includes air skin, red hair, recurrent staphylococcal skin abscesses with concurrent other bacterial in ections and skin lesions, as well as chronic purulent pulmonary in ections and in ected eczematoid skin lesions. T is syndrome obtained its name rom the Biblical passage re erring to Job being smitten with boils. It is o interest to the otolaryngologist because o head and neck in ections. Jugular Foramen Syndrome (Vernet Syndrome) Cranial nerves IX, X, and XI are paralyzed, whereas XII is spared because o its separate hypo- glossal canal. Horner syndrome is not present because the sympathetic chain is below the ora- men. T is syndrome is most o en caused by lymphadenopathy o the nodes o Krause in the oramen. T rombophlebitis, tumors o the jugular bulb, and basal skull racture can cause the syndrome. T e glomus jugulare usually gives a hazy margin o involvement, whereas neurinoma gives a smooth, sclerotic margin o enlargement. T e jugular oramen is bound medially by the occipital bone and laterally by the temporal bone. T e oramen is divided into anteromedial (pars nervosa) and posterolateral (pars vascularis) areas bya brous or bonyseptum. T e medial area transmits nerves IX, X, and XI as well as the in erior petrosal sinus. T e posterior compart- ment transmits the internal jugular vein and the posterior meningeal artery. T e right oramen is usually slightly larger than the le oramen. Kallmann Syndrome Kallmann syndrome consists o congenital hypogonadotropic eunuchoidism with anosmia. It is transmitted via a dominant gene with variable penetrance. Kaposi Sarcoma Patients have multiple idiopathic, hemorrhagic sarcomatosis particularly o the skin and viscera. Radiotherapy is the treatment o choice. Kartagener Syndrome T e symptoms are complete situs inversus associated with chronic sinusitis and bronchiectasis. It is also called the Kartagener triad. Cilia and agella o a patient lack normal dynein side arms o ciliary A-tubes. De cient mucociliary transport causes sterility in both sexes. Keratosis Palmaris et Solaris T is disorder is an unusual inherited mal ormation. I these people live to 65 years o age, 50% to 75% o them develop carcinoma o the esophagus. Kimura Disease Kimura disease was rst described by Kimura et al in 1949 as a chronic in ammatory condition occurring in subcutaneous tissues, salivary glands, and lymph nodes. Etiology is unknown. His- tologically, there is dense brosis, lymphoid in ltration, vascular proli eration, and eosinophils. T is is di erent rom angiolymphoid hyperplasia with eosinophilia (ALHE). It is much more prevalent in people o Oriental descent. Laboratory studies show eosinophilia and elevated IgE. Di erential diagnosis includes ALHE, eosinophilic granuloma, benign lymphoepithelial lesion, lymphocytoma, pyogenic granuloma, Kaposi sarcoma, hamartoma, and lymphoma. reatment includes corticosteroids, cryotherapy, radiation, and surgery.
  • 40. Chapter 1: Syndromes and Eponyms 19 T e di erences between Kimura disease and ALHE are as ollows: Kimura Age: 30-60 (ALHE age 20-50) Sex: Male (ALHE emale) Larger lesions (ALHE < 1 cm) Deep (ALHE super cial) More lymphoid ollicles than ALHE Fewer mast cells than ALHE Less vascular hyperplasia than ALHE More brosis than ALHE More eosinophilia than ALHE More IgE than ALHE Kleinschmidt Syndrome Symptoms include in uenzal in ections, resulting in laryngeal stenosis, suppurative pericarditis, pleuropneumonia, and occasionally meningitis. Kline elter Syndrome Kline elter syndrome is a sex chromosome de ect characterized by eunuchoidism, azoospermia, gynecomastia, mental de ciency, small testes with atrophy, and hyalinization o semini erous tubules. T e karyotype is usually XXY . Klinkert Syndrome Paralysis o the recurrent and phrenic nerves due to a neoplastic process in the root o the neck or upper mediastinum is evidenced. T e sympathetics may be involved. (Le -side involvement is more common than right-side involvement.) It can be a part o Pancoast syndrome. Lacrimoauriculodentodigital Syndrome Autosomal dominant, occasional middle ear ossicular anomaly with cup-shaped ears, abnormal or absent thumbs, skeletal orearm de ormities, sensorineural hearing loss, and nasolacrimal duct obstruction are the characteristics o lacrimoauriculodentodigital syndrome. Large Vestibular Aqueduct Syndrome T e large vestibular aqueduct as an isolated anomalyo the temporal bone is associated with sen- sorineural hearing loss. It is more common in childhood than in adulthood. In this syndrome, the rugose portion o the endolymphatic sac is also enlarged. Endolymphatic sac procedures to improve hearing are not o en success ul. A vestibular aqueduct is considered enlarged i its anteroposterior diameter on computed tomography (C ) scan is greater than 1.5 mm. Larsen Syndrome Larsen syndrome is characterized by widely spaced eyes, prominent orehead, at nasal bridge, midline cle o the secondary palate, bilateral dislocation o the knees and elbows, de ormities o the hands and eet, and spatula-type thumbs; sometimes tracheomalacia, stridor, laryngoma- lacia, and respiratory di culty are present. T erapy includes maintaining adequate ventilation.
  • 41. 20 Part 1: General Otolaryngology Lemierre Syndrome First discussed by André LeMierre in 1936, usually caused by anaerobic, nonmotile gram- negative rod, Fusobacterium necrophorum, Lemierre syndrome can be ound in normal ora o oropharynx, gastrointestinal (GI), emale genital tract; sensitive to clindamycin and metronida- zole, penicillin, and chloramphenicol. Usually in young adults rst presenting with oropharynx in ection, progress to neck and parapharyngeal abscess, leading to internal jugular and sigmoid sinus thrombosis leading to septic embolism causing septic arthritis, liver and splenic abscess, sigmoid sinus thrombosis ndings include headache, otalgia, vertigo, vomiting, otorrhea and rigors, proptosis retrobulbar pain, papilledema, and ophthalmoplegia. Lermoyez Syndrome Lermoyez syndrome is a variant o Ménière disease. It was rst described by Lermoyez in 1921 as dea ness and tinnitus ollowed by a vertiginous attack that relieved the tinnitus and improved the hearing. Lethal Midline Granuloma Syndrome Destroying cartilage, so tissue, and bone, this disease mani ests itsel by a number o entities, including idiopathic midline destructive disease, Wegener granulomatosis, polymorphic reticu- losis, nasal lymphoma, and non-Hodgkin lymphoma (NHL). High-dose local radiation totaling 5000 rad is the treatment o choice or localized cases. Chemotherapy involving an alkylating agent (cyclophosphamide) is recommended or disseminated cases. Lö er Syndrome Löf er syndrome consists in pneumonitis characterized by eosinophils in the tissues. It is pos- sibly o parasitic etiology. Loose Wire Syndrome Loose wire syndrome occurs in patients with stapedectomy and insertion o a prosthesis that attaches to the long process o the incus by means o a crimped wire. It is a late complication, occurring on an average 15 years a er surgery. A triad o symptoms is present that improves temporarily with middle ear in ation: auditory acuity, distortion o sound, and speech discrimi- nation. reatment in revision surgeryinvolves nding the loose wire attachment at the incus and tightening that wire to allow the incus and prosthesis to move as one. Louis-Bar Syndrome T is autosomal recessive disease presents as ataxia, oculocutaneous telangiectasia, and sino- pulmonary in ection. It involves progressive truncal ataxia, slurred speech, xation nystagmus, mental de ciency, cerebellar atrophy, de cient immunoglobulin, and marked requency o lym- phoreticular malignancies. T e patient rarely lives past age 20. Ma ucci Syndrome Ma ucci syndrome is characterized by multiple cutaneous hemangiomas with dyschondroplasia and o en enchondroma. T e origin is unknown, and it is not hereditary. Signs and symptoms o this syndrome usually appear during in ancy. It equally a ects both sexes and has no racial pre er- ence. T e dyschondroplasia may cause sharp bowing or an uneven growth o the extremities as well as give rise to requent ractures. Five to 10% o Ma ucci syndrome patients have head and neck involvement giving rise to cranial nerve dys unction and hemangiomas in the head and neck area. T e hemangiomas in the nasopharynx and larynx could cause airway compromise as well as
  • 42. Chapter 1: Syndromes and Eponyms 21 deglutition problems. Fi een to 20% o these patients later undergo sarcomatous degeneration in one or more o the enchondromas. T e percentage o malignant changes is greater in older patients, with the percentage o malignant degeneration approaching 44%in patients older than 40. T is syndrome is not to be con used with Klippel- renaunay syndrome, which causes no underdeveloped extremities, Sturge-Weber syndrome, or von Hippel-Lindau syndrome. No treatment is known or this syndrome, although surgical procedures to treat the actual de ormi- ties are sometimes necessary. Mal de Debarquement Syndrome Mal de Debarquement syndrome (or MDDS) is an imbalance or rocking sensation that occurs a er prolonged exposure to motion (most commonly a er a sea cruise or a long airplane ight). ravelers o en experience this sensation temporarily a er disembarking, but in the case o MDDSsu erers, it can persist or 6 to 12 months or even many years in some cases. T e imbalance is generally not associated with any nausea, nor is it alleviated by typical motion sickness drugs such as scopolamine or meclizine. Symptoms are usually most pro- nounced when the patient is sitting still; in act, the sensations are usually minimized by actual motion such as walking or driving. T e unctional cause o MDDS is unknown. (Vestibular and CNS tests or MDDS patients invariably turn out normal results.) Speculation about the cause o MDDSincludes the ollowing: • Psychiatric condition (particularly linked to depression) • A hormonal-related condition (may occur more o en in emales) • Otolith organ or CNSabnormalities • Some link to a variant o migraine Diagnosis o MDDSis generally a process o exclusion. T e medical literature describes MDDSas self-limitingcondition. Valium and other derivatives (particularly Klonopin) have been known to help alleviate some o the severe symptoms in MDDSpatients, but there is always a worry that these are habit orming and may prolong the eventual disappearance o the condition. In general, physical activity is recommended or vestibular rehabilitation. Marcus Gunn Syndrome (Jaw-Winking Syndrome) Marcus Gunn syndrome results in an increase in the width o the eyelids during chewing. Some- times the patient experiences rhythmic elevation o the upper eyelid when the mouth is open and ptosis when the mouth is closed. Marie-Strümpell Disease Marie-Strümpell disease is rheumatoid arthritis o the spine. Masson umor Masson tumor is intravascular papillary endothelial hyperplasia caused by excessive proli era- tion o endothelial cells. It is a benign condition. Di erential diagnosis includes angiosarcoma, Kaposi sarcoma, and pyogenic granuloma. Melkersson-Rosenthal Syndrome ( riad:Recurrent oro acial swelling, one or more episodes o acial paralysis, and lingua plicata.) Melkersson-Rosenthal syndrome is a congenital disease o unknown etiology, and it mani ests
  • 43. 22 Part 1: General Otolaryngology as recurring attacks o unilateral or bilateral acial paralysis (see Chapter 21), swelling o the lips, and urrowing o the tongue. It is associated with high serum levels o angiotensin-converting enzyme during af iction, and also known as oro acial granulomatosis, cheilitis granulomatosis, Scheuermann glossitis granulomatosis, and Miescher cheilitis. reatment should ocus on acial paralysis and edema. Steroids and acial nerve decompres- sion have had limited success. Meyenburg Syndrome (Familial Myositis Fibrosa Progressiva) Meyenburg syndrome is a disease in which the striated muscles are replaced by brosis. Fibro- sarcoma rarely originates rom this disease. Middle Lobe Syndrome Middle lobe syndrome is a chronic atelectatic process with brosis in one or both segments o the middle lobe. It is usually secondary to obstruction o the middle lobe bronchus by hilar adenopathy. T e hilar adenopathy may be transient, but the bronchiectasis that resulted persists. reatment is surgical resection. Mikulicz Disease T e symptoms characteristic o Mikulicz disease (swelling o the lacrimal and salivary glands) occur as complications o some other disease, such as lymphocytosis, leukemia, or uveoparotid ever. Millard-Gubler Syndrome Patients present with ipsilateral paralysis o the abducens and acial nerves with contralateral hemiplegia o the extremities due to obstruction o the vascular supply to the pons. Möbius Syndrome Möbius syndrome is a nonprogressive congenital acial diplegia (usually bilateral) with unilat- eral or bilateral loss o the abductors o the eye, anomalies o the extremities, and aplasia o the brachial and thoracic muscles. It requently involves other cranial nerves. Saito showed evidence that the site o nerve lesions is in the peripheral nerve. T e etiology could be CNS hypoplasia, primary peripheral muscle de ect with secondary nerve degeneration, or lower motor neuron involvement. Morgagni-Stewart-Morel Syndrome Morgagni-Stewart-Morel syndrome occurs in menopausal women and is characterized by obesity, dizziness, psychologic disturbances, inverted sleep rhythm, and hyperostosis rontalis interna. reatment is supportive. Multiple Endocrine Adenomatosis Multiple Endocrine Adenomatosis ype IIA (Sipple Syndrome) Sipple syndrome is a amil- ial syndrome consisting o medullary carcinoma o the thyroid, hyperparathyroidism, and pheochromocytoma. Multiple Endocrine Adenomatosis ype IIB T is multiple endocrine adenomatosis (MEA) variant consists o multiple mucosal neuromas, pheochromocytoma, medullary carcinoma o the thyroid, and hyperparathyroidism. T is syndrome is inherited in an autosomal dominant pattern. Mucosal neuromas principally involve the lips and anterior tongue. Numerous white medullated nerve bers traverse the cornea to anastomose in the pupillary area.
  • 44. Chapter 1: Syndromes and Eponyms 23 Munchausen Syndrome Munchausen syndrome was named a er Baron Hieronymus Karl Freidrich von Münchausen (1720-1791) by Asher in 1951. T e integral eatures o this syndrome include the ollowing: A. A real organic lesion rom the past that has le some genuine signs but is causing no organic symptoms. B. Exorbitant lying with dramatic presentation o nonexistent symptoms. C. raveling widely with multiple hospitalizations. D. Criminal tendencies. E. Willingness to undergo pain ul and dangerous treatment. F. Presenting challenging illnesses or treatment. G. Unruly behavior during hospital stays and early sel -discharge without prior approval. H. Patients o en in ict pain on their own children and orcibly create symptoms to indi- rectly receive hospital treatment. T e patients usually go rom one medical center to another to be admitted with dramatic presentations o nonorganic symptoms related to a real organic lesion on the past medical history. Nager Syndrome (Acro acial Dysostosis) Acro acial dysostosis patients have acies similar to those seen with reacher Collins syndrome. T ey also present with preaxial upper limb de ects, microtia, atresia o the external auditory canals, and mal ormation o the ossicles. Conductive and mixed hearing losses may occur. Nager de Reynier Syndrome Hypoplasia o the mandible with abnormal implantation o teeth associated with aural atresia characterizes this syndrome. Neuro bromatosis (von Recklinghausen Disease) Salient Features A. Autosomal dominant. B. Mental retardation common in amilies with neuro bromatosis. C. Arises rom neurilemmal cells or sheath o Schwann and broblasts o peripheral nerves. D. Ca é au lait spots—giant melanosomes (presence o six or more spots > 1.5 cm is diag- nostic o neuro bromatosis even i the amily history is negative). E. O all neuro bromatoses, 4% to 5% undergo malignant degeneration with a sudden increase in growth o ormerly static nodules. T ese nodules may become neuro bro- sarcomas, and they may metastasize widely. External Features A. Ca é au lait spots B. Fibromas Internal Features A. Pheochromocytoma. B. Meningioma. C. Acoustic neuroma: bilateral in type 2 neuro bromatosis. D. GI bleeding. E. Intussusception bowel. F. Hypoglycemia (intraperitoneal bromas).
  • 45. 24 Part 1: General Otolaryngology G. Fibrous dysplasia. H. Subperiosteal bone cysts. I. Optic nerve may be involved, causing blindness and proptosis. J. May present with macroglossia. K. May involve the parotid or submaxillary gland. L. T e nodules may be pain ul. M. Nodules may enlarge suddenly i bleeding o the tumor occurs or i there is malignant degeneration. T e treatment is only to relieve pressure rom expanding masses. It usually does not recur i the tumor is completely removed locally. Nothnagel Syndrome T e symptoms include dizziness, a staggering and rolling gait with irregular orms o oculomo- tor paralysis, and nystagmus o en is present. T is syndrome is seen with tumors o the midbrain. Oculopharyngeal Syndrome Oculopharyngeal syndrome is characterized by hereditary ptosis and dysphagia, and is an auto- somal dominant disease having equal incidence in both sexes. It is related to a high incidence o esophageal carcinoma. Age o onset is between 40 and 50 years, and it is particularly common among French Canadians. Marked weakness o the upper esophagus is observed together with an increase in serum creatinine phosphokinase. It is a myopathy and not a neuropathy. reat- ment includes dilatation and cricopharyngomyotomy. Ollier Disease Ollier disease consists o multiple chondromatosis,10%o which is associated with chondrosarcoma. Ondine Curse Failure o respiratory center automaticity with apnea, especially evident during sleep, is symp- tomatic. Also known as the alveolar hypoventilation syndrome, it may be associated with increased appetite and transient central diabetes insipidus. Hypothalamic lesions are thought to be the cause o this disorder. Oral-Facial-Digital Syndrome I See Chapter 17 or oral- acial-digital syndrome I. A lethal trait in men, it is inherited as an X-linked dominant trait limited to women. Symp- toms include multiple hyperplastic renula, cle tongue, dystopia canthorum, hypoplasia o the nasal alar cartilages, median cle o the upper lip, asymmetrical cle palate, digital mal orma- tion, and mild mental retardation. About 50%o the patients have hamartoma between the lobes o the divided tongue. T is mass consists o brous connective tissue, salivary gland tissue, ew striated muscle bers, and rarely cartilage. One-third o the patients present with ankyloglossia. Orbital Apex Syndrome Orbital apex syndrome involves the nerves and vessels passing through the superior sphenoid ssure and the optic oramen with paresis o cranial nerves III, IV, and VI. External ophthal- moplegia is associated with internal ophthalmoplegia with a dilated pupil that does not react to
  • 46. Chapter 1: Syndromes and Eponyms 25 either light or convergence. Ptosis as well as periorbital edema are due to ourth nerve paresis. Sensory changes are secondary to the lacrimal rontal nasal ciliary nerves as well as the three branches o the ophthalmic nerve. T e optic nerve usually is involved. Ortner Syndrome Cardiomegaly associated with laryngeal paralysis secondary to compression o the recurrent laryngeal nerve is observed with this syndrome. Osler-Weber-Rendu Disease (Hereditary Hemorrhagic elangiectasia) Osler-Weber-Rendu disease is an autosomal dominant disease in which the heterozygote lives to adult li e, whereas the homozygous state is lethal at an early age. T e patient has punctate hem- angiomas (elevated, dilated capillaries and venules) in the mucous membrane o the lips, tongue, mouth, GI tract, and so on. Pathologically, they are vascular sinuses o irregular size and shape lined by a thin layer o endothelium. T e muscular and elastic coats are absent. Because o their thin walls these vascular sinuses bleed easily, and because o the lack o muscular coating the bleeding is di cult to control. T e patient has normal blood elements and no coagulation de ect. T e other blood vessels are normal. I a person with this disease marries a normal person, what are the chances that the o spring will have this condition? Because the patient with this disease is an adult, we can assume that he is heterozygous, as the homozygote dies earlyin li e. T ere ore, the child will have a 50% chance o having this hereditary disease. Otopalatodigital Syndrome Otopalatodigital syndrome is characterized by skeletal dysplasia, conductive hearing loss, and cle palate. Middle ear anomalies are also associated with this syndrome. Although the mode o inheritance is not known, some suggest that X-linked recessive inheritance is possible. Symp- toms tend to be less severe in emales than in males. T e diagnosis o otopalatodigital (OPD) syndrome is sometimes based on characteristic acies and de ormities o hands and eet. Physi- cal eatures include mild dwar sm, mental retardation, broad nasal root, rontal and occipital bossing, hypertelorism, small mandible, stubby, clubbed digits, low-set and small ears, winged scapulae, malar attening, downward obliquity o the eye, and down-turned mouth. T e inner ear has been known to display de ormities likened to a mild type o Mondini dysplasia. Surgical attempts to improve hearing loss are not always recommended since certain de ormities, such as a missing round window, make such attempts unsuccess ul. Paget Disease (Osteitis De ormans) See Chapter 17. T is term also is used to characterize a disease o elderly women who have an in ltrated, eczematous lesion surrounding the nipple and areola associated with subjacent intraductal car- cinoma o the breast. Paget Osteitis T is disorder is related to sarcomas. Pancoast Syndrome See Chapter 7. Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher disease is an X-linked recessive sudanophilic leukodystrophy. T e CNS myelin ormsimproperlyand never matures,sometimes endingin death bythe age o 2 or 3 years.
  • 47. 26 Part 1: General Otolaryngology Nystagmoid eye movements are characteristic at age 4 to 6 months, ollowed by a delay in motor development. Prenatal amniocentesis is not use ul in detecting this disease. Neonatal stridor, a speci c genealogy combined with a characteristic auditory brain stem response (ABR) wave can lead to early diagnosis. Characteristic waves have been known to be missing rostral waves and normal wave I latency. Males are af icted, whereas emales are unknowing carriers. Pena-Shokeir Syndrome Rare autosomal recessive, a ects newborn camptodactyly, multiple ankylosis, pulmonary hypo- plasia, and acial anomaly. Generally poor prognosis and die shortly a er birth. Peutz-Jeghers Syndrome T e patient has pigmentation o the lips and oral mucosa and benign polyps o the GI tract. Granulosa theca cell tumors have been reported in emale patients with this syndrome. Pheochromocytoma Pheochromocytoma is associated with neuro bromatosis, cerebellar hemangioblastoma, epen- dymoma, astrocytoma, meningioma, spongioblastoma, multiple endocrine adenoma, or medul- lary carcinoma o the thyroid. Pheochromocytoma with or without the tumors may be inherited as an autosomal dominant trait. Some patients have megacolon, others su er neuro bromatosis o Auerbach and Meissner plexuses. Pierre Robin Syndrome Pierre Robin syndrome consists o glossoptosis, micrognathia, and cle palate. T ere is no sex predilection. T e etiologyis believed to be intrauterine insult at the ourth month o gestation, or it may be hereditary. wo-thirds o the cases are associated with ophthalmologic di culties (eg, detached retina or glaucoma), and one-third are associated with otologic problems (eg, chronic otitis media and low-set ears). Mental retardation is present occasionally. I the patient lives past 5 years, he or she can lead a airly normal li e (see Chapter 17). T e symptoms are choking and aspiration as a result o negative pressure created by excessive inspiratory e ort. Passing a naso- gastric (NG) tube may alleviate the negative pressure. Aerophagia has to be treated to prevent vomiting, airway compromise, and aspiration. racheotomy may not be the answer. A modi cation o the Douglas lip–tongue adhesion has helped prevent early separation o the adhesion. One theory explains that the cause may be that the etus’ s head is exed, prevent- ing orward growth o the mandible, orcing the tongue up and backward between the palatal shelves, and producing the triad o micrognathia, glossoptosis, and cle palate. Plummer-Vinson Syndrome (Paterson-Kelly Syndrome) Symptoms include dysphagia due to degeneration o the esophageal muscle, atrophy o the papillae o the tongue, as well as microcytic hypochromic anemia. Achlorhydria, glossitis, phar- yngitis, esophagitis, and ssures at the corner o the mouth also are observed. T e prevalence o this disease is higher in women than in men, and usually presents in patients who are in their ourth decade. reatment consists o iron administration, with esophagoscopy or dilatation and to rule out carcinoma o the esophagus, particularly at the postcricoid region. Pharyngoesopha- geal webs or stenosing may be noted. T is disease is to be contrasted with pernicious anemia, which is a megaloblastic anemia with diarrhea, nausea and vomiting, neurologic symptoms, enlarged spleen, and achlorhydria. Pernicious anemia is secondary to ailure o the gastric undus to secrete intrinsic actors neces- sary or vitamin B12 absorption. reatment consists o intramuscular vitamin B12 (ribo avin).