Problem oriented approach in pediatric radiology

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This hand book tries to address the most common clinical problems in pediatrics ,by building a problem based imaging algorithm ,which probes the different differential diagnosis and try to reach a final diagnosis.

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Problem oriented approach in pediatric radiology

  1. 1. Introduction to: Problem Oriented Approach in Pediatric RadiologyIntroductionPediatric Radiology is the application of diagnostic radiology in the understanding ,diagnosis, therapy, andfollow up of diseases of infants and children.To minimize radiation risks and maximize benefits from any imaging examination ,the procedure should betailored to the specific clinical problem.An algorithm for each clinical presentation , will help to reach a “definite “ diagnosis ,with the least radiationexposure and cost .The referring physician ,as well as the pediatric Radiologist ,have the duty to take PROBLEM ORIENTEDDECISIONS ,which will decide ,which techniques will be used or omitted in any given clinical situation ,so asto reach the appropriate diagnosis. I-Thorax CXR-showing a large mediastinal mass lesion . 1. Patient with a chest mass.The clinical problem :The discovery of a chest mass on CXR is a common finding which can happen in the course ofinvestigation for a tachypneic child ,signs of SVC obstruction ,coughing ,chest infection ,or incidentally.The need for identifying a normal thymus is needed.The location of chest mass is necessary to build a working differential diagnosis.Role of Radiology:An approach includind CXR with chest US has been proposed by some authors .The technique depends on examining the chest through suprasternal ,parasternal and sub-xiphoidwindows.The main role of U.S. is : 1. Identify a normal thymus.
  2. 2. 2. Differentiate between a cystic or solid mass lesions. 3. Study of the cystic lesion –which is most likely bening-regarding its size ,wall ,contents ,etc..Etiology Anterior Mediastinum Middle Mediastinum Posterior MediastinumCongenital Thymic cyst Foregut cyst Foregut cyst. Morgagni Hernia Hiatal hernia-achalasia Lateral meningocele Bochdaleck HerniaInflammatory Mediastinitis. Mediastinitis. +spinal inflammatory Lymohadenopathy Lymphadenopathy diseasesNeoplastic Lymphoma-Leukemia Lymphoma-Leukemia Neurogenic Germ Cell tumor. tumours(neural crest or Teratoma peripheral nerve Tumors ).lymphoma- Leukemia- Phaechromocytoma.Traumatic Haematoma Hematoma. Spinal fracture Thymic Hemorrhage Diaphragmatic ruptureVascular Annomalous vessel Aneurysm. Aortic aneurysm Great vessels anomaly Dilated azygous veinMiscelaneous Histiocytosis Pancreatic pseudocyst- Extramedullary Sarcoidosis Histiocytosis-sarcoidosis Haematopoiesis. 4. Evaluate the solid lesion regarding its site ,size ,borders ,presence or absence of necrosis ,vascularity ,etc.. 5. guide for interventional procedure (biopsy or aspiration for peripheral lesion Etiology:I-Mediastinal masses.II-Chest wall masses:-Normal structures at pleural surfaceLocation CausesSoft tissue tumors Lymphangioma Cystic HygromaExtrapleural –intrathoracic Mesenchymoma-Lipoma RhabdomyosarcomaBony thorax tumors Generalized bone diseases :Neurofibromatosis-Multiple hereditary exostosis, Benign causes:fibrous dysplasia-osteochondroma-eosinophilic granuloma- Aneurysmal bone cyst. Malignant:Ewing Sarcoma- PNET-chondrosarcoma-Osteosarcoma
  3. 3. Metastatic: Neuroblastoma-LeukemiaIII-Lung Masses :Location CausesPleural Metastasis-Leukemia- Lymphoma-Askin tumor Primary:Parenchymal Benign:Bronchogenic cyst- Sequestration-Round pneumonia-hamartoma- bronchial adenoma. Malignant:Sarcoma- Pulmonary Blastoma Secondary: Benign:Papillomatosis Malignant:Wilm’s tumor,Osteosarcoma,etc.B-Flow of thinking : 5 questions to ask.1.Location 2.Density 3.enhancement 4.Morphology 5. Associations(Wall/med/lung) (air/fat/calcification) ( border/size/shape) (displacement/bony Destruction)
  4. 4. 2. Patient with upper Airway Obstruction CXR:Church steeple sign denoting CroupA-Etiology :The differential diagnosis of upper air way obstruction depends upon :the age of presentation (neonatal?older children),associated findings (fever/nasal obstruction/stridor),history of foreign body inhalation.Mechanism Causes Choanal atresia -micrognathia-ectopic thyroid-laryngomalacia-laryngeal ,subglottic trachealCongenital stenosis-nasal encephalocele. Adenoids- retropharyngeal abscess-croup-epiglottitis-Inflammatory Laryngeal,aryepiglottic,retention,or epiglottic cysts-cystic hygroma-hemangioma-papilloma- Rhabdomyosarcoma-dermoid / teratoma-Nasopharyngeal mass(Angiofibroma)Masses Foreign body-hematoam-radiation-thrermal injury.Traumatic Tracheomalacia-vascular ring-angioneurotic edemaMiscellaneousRole of Imaging:1.Croup:Pathophysiology: The cells of the respiratory epithelium are infected following viral inhalation. Inflammation isdiffuse in the involved airway.X-ray diagnosis: Frontal neck radiograph: The lateral walls of the subglottic larynx normally are convex orshouldered . Wall edema in croup narrows this space with loss of lateral convexity, creating a steeple shapebelow the vocal cords The narrowing may extend for 5-10 mm below the vocal cords.2.Epiglottitis:Pathophysiology: Epiglottitis causes inflammation and swelling of the epiglottis, vallecula, arytenoids, andaryepiglottic folds. As the tissues swell, they protrude downward and over the glottic opening, making breathingdifficult.
  5. 5. X-ray diagnosis: In epiglottitis, images show diffuse soft-tissue swelling with enlargement of the epiglottis and also ofthe normally thin aryepiglottic folds. One should look for an enlarged epiglottis (thumbprint sign), thickenedaryepiglottic folds, and ballooning of the hypopharynx, usually with normal subglottic structures . CXR:Bilateral consolidation patches-Broncho-pneumonia 3. Patient with chest InfectionA-Etiology : 1. Viral(Adeno virus-Haemophylis Influenza –Respiratory syncitial virus) 2. Bacterial (streptococcal-Staphylococcal-Klebsiella) 3. Fungal(aspergillosis) 4. Tuberculous. 5. Mycoplasma. 6. Amebic.B-Complications: 1. Empyema. 2. Pulmonary abscess. 3. Bronchopleural fistula. 4. Septic embolization.
  6. 6. Large pleural collection in left hemithorax –post staph pneumonia-Empyema. Ultrasonic examination revealing loculated pleural effusion. 4. Patient with recurrent/chronic pulmonary problemsA-Etiology :Extensive list for the causes of chronic /recurrent lung infections are present.Mechanism Causes CNS malformation-cerebral tumors-1. Aspiration Tracheo-esophageal fistula-Reflux Congenital lobar emphysema-2.Anomaly Sequestration-Tracheobronchial tree anomalies(tracheal bronchus- stenosis-atresia)-bronchogenic cyst. Astham- Loeffler pneumonia-allergic3.Allergy. alveolitis Cystic fibrosis4.Systemic disease. Prematurity-AIDS-Neutropenia5.Immunodeficiency. Foreign body-Drugs-radiation-6.Physical agents. Bronchopulmonary dysplasia
  7. 7. Leukemia-Lymphoma-Histiocytosis7.Neoplasm. Left to right shunt -PA stenosis-8.CVS vascular ring TB-Mycoplasma-Bronchiectasis9.specific Infections. Interstitial Pneumonia-Collagen10.Miscellaneous vascular disease-Alveolar proteinosis-sarcoidosis.B-Role of Radiology :The role of radiology is 3 folds :1 .Evaluate the present X-ray. Look for : The presence and distribution of opacities,Pleural involvement ,Lymph nodal swellings ,pulmonaryvascularity ,soft tissue involvement , bony structures .2.Review of previous films.Look for:Are the lesion stable in the same location (Sequestration ?)Are they present always in upper lobe (aspiration ? )Are they changing in location (Immunodeficiency ?)3.Perform esophagogram.Look for : 1. Reflux of gastric contents. 2. Abnormal peristalsis-Compression of esophagus by a mass ,vascular ring. 3. Tracheo-esophageal fistula. 4. Hiatal Hernia
  8. 8. Left basal pulmonary lesion with systemic aterial supply (2)..Pulmonary sequestration 5.Neonate with respiratory distress CXR :RDS –Bilateral Opacification with air bronchogram.Etiology: 1. Respiratory distress syndrome. 2. Congenital Diaphragmatic Hernia.
  9. 9. 3. Congenital Cystic Adenomatoid Malformation. 4. Congenital Lobar Emphysema. 5. Lung agenesis /hypoplasia. 6. Tracheal stenosis/atresia. 7. Pulmonary sling. 8. Vascular ring.Role of imaging1.Congenital Cystic adenomatoid Malformation:Pathogenesis and pathophysiologic features: CAM is believed to result from focal arrest in fetal lung developmentbefore the seventh week of gestation secondary to a variety of pulmonary insults.Types:Type I lesions, the most common, are composed of 1 or more cysts measuring 2-10 cm in diameter.Type II lesions are characterized by small relatively uniform cysts resembling bronchiolesType III lesions consist of microscopic, adenomatoid cysts, and are grossly a solid mass without obvious cystformation.Radiographic findings:The pattern in the lung demonstrates multiple radiolucent areas that vary greatly in size and shape. Cysts are separatedfrom each other by strands of opaque pulmonary tissue.The involved lung may appear honeycombed or spongy, but occasionally, 1 large cyst may overshadow the others. Airtrapping within cystic spaces can cause rapid enlargement of the CAMCT findings:Areas of small cysts (<2 cm in diameter) appearing with other abnormalities (a larger cystic area, consolidation, or lowattenuation) are the most frequent findings.Multiple large cystic lesions (>2 cm in diameter) are seen alone or with other abnormalities (areas of small cysts,consolidation, or low attenuation).Low-attenuation areas are clusters of microcysts.Air-fluid levels can be seen in some cysts. These lesions may be predominantly type I, type II, or a combination ofboth.
  10. 10. MRI findings:In CAM, prenatal MRI findings on T2-weighted images have been reported. CAMs appear asintrapulmonary masses with increased signal intensity on T2-weighted images. Type III CAM lesions have moderatelyhigh signal intensity.Ultrasonic diagnosis:Partially cystic partially echogenic masses are characteristic of type I or type II lesions. The size or dimension of thecysts distinguishes the 2 types. Type III lesions may be large and entirely echogenic. Chest X-ray revealing multiple basal lung cysts (CCAM) CT chest :right basal cystic lesions-CCAM2.Congenital lobar emphysema:Pathophysiology: Overdistension of the airspaces within a pulmonary lobe is associated with air trapping andcompressive changes in the remainder of the lung . Mediastinal shift away from the increased volume results incompression of the contralateral lung. CLE almost always involves one lobe, with rates of occurrence as follows:Left upper lobe - 41%Right middle lobe - 34%Right upper lobe - 21%X-ray findings: A large, hyperlucent lung with attenuated but defined vascularity is observed. Compressed remaininglung on that side, flattened hemidiaphragm, and widened intercostal spaces also are seen. An involved lung is seenherniated across the anterior midline.On a lateral view, the heart is displaced posteriorly with retrosternal lucencyrepresenting an anteriorly herniated lobe .
  11. 11. CXR:large right basal cystic lesion. CT rvealed area of hyperlucency :Congental Lobar EmphysemaCT findings: CT scan shows a hyperlucent, hyperexpanded lobe (attenuated but intact pattern of organized vascularity)with midline substernal lobar herniation and compression of the remaining lung. Usually, the mediastinum issignificantly shifted away from the side of the abnormal lobe .3.Respiratory distress syndrome :Pathophysiology: RDS is the result of anatomic pulmonary immaturity and a deficiency of surfactant. Pulmonarysurfactant synthesis, in type II pneumocytes, begins at 24-28 weeks of gestation, and gradually increases until fullgestation. Pulmonary surfactant decreases surface tension in the alveolus during expiration, allowing the alveolus toremain partly expanded, thereby maintaining a functional residual capacity.In premature infants, an absence of surfactant results in poor pulmonary compliance, atelectasis, decreased gasexchange, and severe hypoxia and acidosis.X-ray diagnosis:The radiologic spectrum of RDS ranges from mild to severe and is generally correlated with the severity of the clinicalfindings.In the early stages of the disease, notable air bronchograms are lacking because the major bronchi lie in themore anterior portions of the lungs and because alveolar atelectasis tends to involve the dependent areas of the lungs,which are posterior in recumbent infants. However, a bubble appearance, which represents overdistended bronchiolesand alveolar ducts, can be observed. As RDS progresses, the reticulogranular pattern becomes prominent due tocoalescence of the small atelectatic areas. This coalescence leads to larger areas of increased lung opacity. As theanterior portions of the lung become involved with microatelectasis, the granularity becomes uniformly distributed, andair bronchograms can be seen. With increasing severity of disease, progressive opacification of the anterior portions ofthe lungs cause obscuration of cardiac silhouette and the formation of prominent air bronchograms. With severedisease, the lungs appear opaque and display prominent air bronchograms, with total obscuration of cardiomediastinalsilhouette.
  12. 12. CXR :respiratory distress syndromeComplications:1.Pulmonary interstitial emphysema:PIE can be symmetrical, asymmetrical, or localized to 1 portion of a lung. Peripheral PIE can producesubpleural blebs and ultimately rupture into pleural space to produce pneumothorax (usually tensionpneumothorax), or they can extend centrally to produce pneumomediastinum or pneumopericardium.Because infants are supine and because air rises to the highest point of the thorax, the pneumothorax islocated paramediastinally, resulting in the sharp mediastinum sign, whereby the mediastinum/heart issharply outlined by adjacent free air rather than aerated lung tissue. CXR :Pulmonary interstitial emphysema2.Bronchopulmonary dysplasia:After days of ventilatory support, interstitial fibrosis results from the cumulative effect of therapeutic insult tothe pulmonary parenchyma. This fibrosis is often accompanied by exudative necrosis and a honeycombappearance of the lungs on chest radiography. The honeycomb appearance represents focally distendedalveolar groups in a scarred, and immature lungs.
  13. 13. CT chest : ARDS in NICU patient with difficult extubation II –Body 1. Vomiting Digestive origin Extra digestive originFrequent Rare Infectious Otitis media - Labyrinthitis-Pneumonia-UTICongenital Microgastria Neurological Cerebralhypertophic Pyloric tumors,hydrocephalus,Abscess,hematomastenosisAntral Dyskinesia Antral Diaphragm Toxic Lead poisoning-Chemotherapy-Vitamin A&D poisoningIntussusception. Midgut volvulus Metabolic Fructosemia-Galactosemia-Tyrosinemia- Adrenal insufficiencyHirschprung disease Preduodenal portal Psychic Anorexia veinGastroenteritis Ladd’s BandAcute Appendicitis Gastric or duodenal Ulcer1.Congenital Hypertrophic Pyloric stenosis:Pathophysiology: Full-thickness biopsies demonstrate both hypertrophy and hyperplasia of the circular muscle layer ofthe pylorus.Sex: Male-to-female ratio is 4-6:1.Age: HPS most commonly is seen in infants aged 3-6 weeksImaging: 1. Ultrasonic diagnosis ; US examination showing CHPS: note thich muscular layer and elongated canal
  14. 14. Target sign on transverse images of the pylorusMuscle thickness of >3mmPyloric channel length greater than 17 mmPyloric thickness (serosa to serosa) of 15 mm or greaterFailure of the channel to open during a minimum of 15 minutes of scanningRetrograde or hyperperistaltic contractionsAntral nipple sign, a prolapse of redundant mucosa into the antrum (creating a pseudomass)2.Intussusception: Role of imaging :Abdominal radiograph:Look for dilated small bowel and absence of gas in the region of the cecum . Occasionally, a massimpression within the colonic gas indicates an intraluminal mass created by the intussuscepting loop. Abdominal radiograph :intususception transverse colonUltrasoundTransverse: Ultrasound (US) shows a mass with a swirled appearance of alternating sonolucent and hyperechoic bowelwall of the loop-within-a-loop.Longitudinal: US of the mass shows a submarine sandwich-like appearance of the intussuscipiens and theintussusceptum. There appear to be multiple layers, which represent the walls of the intussuscepted bowel loops .
  15. 15. Ultrasonic examination showing Donut sign of intususception3.Mid gut Volvulus:Malrotation is caused by incomplete rotation (<270° of counterclockwise rotation occurring in weeks 5-12).This group of disorders can be divided into different categories:Nonrotation (0° to <90° of counterclockwise rotation occurring before 6 weeks)Reverse rotation (abnormal rotation >90° and <180° causing obstruction or reversal of the normalduodenal/SMA relationship, occurring in weeks 6-10)Malrotation most often associated with malfixation (>180° and <270° of counterclockwise rotation, occurringafter 10 weeks)Clinical Details: Malrotation with midgut volvulus classically presents in the neonate with bilious vomitingand high intestinal obstruction..Older children with malrotation may show failure to thrive, chronic recurrent abdominal pain, malabsorption,or other vague presentations.Radiological diagnosis:1.UGI studies:Findings of a UGI series in malrotation include the following:DJJ displaced downward and to the right on the frontal viewAn abnormal course of the duodenum on lateral viewAn abnormal position of the jejunum (lying on right side of abdomen) .In malrotation with midgut volvulus, findings also include the following:A dilated, fluid-filled duodenumA proximal small bowel obstructionA "corkscrew" pattern (proximal jejunum spiraling downward in right or mid upper abdomen in midgutvolvulus.Mural edema, thick folds
  16. 16. UGI Typical corkscrew appearance of midgut volvulus2. Ulrasound:The "whirlpool sign" on color Doppler shows mesentery and flow within the SMV wrapping around the SMA(in a clockwise direction), indicating malrotation with volvulus. A dilated, fluid-filled duodenum frequently isseen in patients with obstruction without volvulus. However sensitivity and specificity are low compared tothe UGI series; therefore, a UGI examination is mandatory to confirm the diagnosis whirlpool sign" on color Doppler . 2- Abdominal massEtiology:Abdominal or pelvic masses are comon paediatric clinical problems.The radiologist must be aware of the clinical presentation of the patient as well as his age.The radiological examination depend mainly on: 1. Abdominal X-ray without preparation. 2. Ultrasonography.Orientations: 1. Topographic localization .
  17. 17. 2. Structural orientaion. 3. Associated lesions.Abdominal Lesions :I-Intraperitoneal Lesions : Causes before 6 months : Haemangioendothelioma- Pepper Syndrome Causes at any age : 1. Hepatic masses :hepatoblastoma. 2. Splenic masses :cysts 3. Cystic masses: 4. Ovarian masses. 5. Lymphomatous massesII-Retroperitoneal Lesions :Pillars of diagnosis : 1. Age. 2. structure (ultrasonic and CT) 3. Renal or adrenal origin.Causes :A-Renal : Unilateral : Wilm’s tumour ,mesoblastic nehroma,Multiloclar cystic nephroma. Bilateral : Angiomyolipoma,nephroblastomatosis,lymphoma ,metastasis.B-Adrenal:neurblastoma.C-Lymphadenopahties :Pelvic lesionsI-Neonatal period :Girls :Ovarian cyst-Hydrometrocolpos.Boys :PUV causing bladder distension.Any sex:Teratoma-Meningoceles-pelvic neuroblastoma.II-Post neonatal period: 1. Ovarian cyst. 2. Rhabdomyosarcoma. 3. Urinary bladder diverticulum. 4. Pelvic Abscess.
  18. 18. 5. Bony tumours. 6. Nodal swellings.1.Neuroblastoma:Pathophysiology: Neuroblastomas arise from primitive neural crest cells that differentiate to form the sympatheticnervous system.Imaging:Ultrasound:Ultrasonography can be used as a screening tool for detecting abdominal or pelvic masses in childrenNeuroblastomas appear as an inhomogeneously echogenic mass on sonograms. Calcifications typically appear as focalbrightly echogenic areas in the massCT findings: CT is the modality most commonly used to diagnose and stage neuroblastomas. CT can show the organof origin, extent of the tumor, lymphadenopathy, metastases, and calcifications. About 80-90% of neuroblastomas showstippled calcifications on CT.Neuroblastomas often encase or compress adjacent blood vessels. Neuroblastomas rarely invade into the lumen ofblood vessels.The tumors often appear lobulated and typically have a heterogeneous appearance on contrast-enhanced CT. There areareas of low attenuation in the mass secondary to necrosis and hemorrhage. CT is good for detecting lung metastasesand focal liver metastases (which appear as focal hypoattenuating and poorly enhancing masses). Bone-windowsettings should always also be examined to assess for skeletal metastases.MRI findings:Neuroblastomas are typically hypointense on T1-weighted images and hyperintense on T2-weighted images. Whencontrast material is administered, the tumor exhibits inhomogeneous enhancement. Calcifications appear as signalvoids on MRIs. Hemorrhagic areas often appear bright on T1-weighted images. Bone-marrow disease appears bright(hyperintense) and heterogeneous on T2-weighted images and dark (hypointense) on T1-weighted images. Diffuse livermetastases appear bright on T2-weighted MRIs.Nuclear medicine:Iodine-131 metaiodobenzylguanidine (MIBG) and iodine-123 MIBG are used to identify sites of primaryneuroblastomas. Tumors that contain sympathetic tissue, such as neuroblastomas, ganglioneuroblastomas,ganglioneuromas, medullary thyroid carcinomas, pheochromocytomas, and carcinoids, take up MIBG.Another isotope that can be used in detecting primary neuroblastomas is indium-111 pentetreotide, which is asomatostatin analog.
  19. 19. Axial T2-weighted MRI demonstrates extradural extension into the spinal canal. 3-Patient with Urinary Tract InfectionDefinition :Pure growth of > 100 000 organism/ml urineEtiology: 1. Vesicoureteric reflux. 2. Obstructive uropathy. 3. Reflux nephropathy and scar formation. 4-Neonate with Abdominal wall defectsEtiology : 1. Omphalocele. 2. Gastroschisis. 3. Cloacal exstrophy (Omphalocele-Exstrophy of urinary bladder-Imperforate anus- meningeomyelocele ) 4. Pentalogy of Cantrell :Omphalocle-Ectopic heart-Bifid sternum-Anterior diaphragmatic hernia- Pericardial defect )1.Gastroschisis:Pathophysiology: Controversy exists regarding the cause of gastroschisis. Some authorities suggest that the defect iscaused by abnormal involution of the right umbilical vein, resulting in rupture of the anterior abdominal wall at a pointof weakness. Others suggest that gastroschisis results from rupture of an exomphalos.Another theory for etiology of gastroschisis is premature interruption of the right omphalomesenteric artery, whichresults in ischemic injury to the anterior abdominal wall through which herniation of abdominal contents occurs.
  20. 20. Effects: Because the herniated bowel is bathed by amniotic fluid, both maternal serum and amniotic fluidAFP levels are elevated, more so than in exomphalos. Later in pregnancy, bowel obstruction, peritonitis, bowelperforation, and fetal growth restriction may occur secondary to nutrient loss through exposed bowel.Ultrasound findings: Findings include exteriorized bowel in relation to the anterior abdominal wall, multiple loopsof bowel, and a thickened bowel floating freely in the amniotic fluid. The bowel can be identified by its characteristicsonographic pattern.Because no covering is present around the bowel loops; the bowel loops of a gastroschisis result in a masswith irregular edges.Usually, the small and large bowels are herniated, but, occasionally, the stomach, liver, gallbladder, spleen,uterus, adnexa, and urinary bladder may be herniated.Signs of intestinal obstruction may be depicted; examples of these include multiple distended loops ofbowel (both intraperitoneal and extraperitoneal), bowel loops greater than 17 mm in diameter, and increasedperistalsis. Polyhydramnios may ensue in high intestinal obstructions. A bowel diameter of greater than 17mm usually represents significant bowel dilation, and diameters greater than 11 mm are usually associatedwith a greater number of postnatal bowel complications. A right paramedian paraumbilical abdominal wall defect is revealed, usually of 2-5 cm.Insertion of theumbilical cord is normal. Typically, no ascites is noted. Bowel perforation can cause calcification and anintramesenteric extra-abdominal pseudocyst2.Omphalocele:Pathophysiology: Various theories have been postulated; these include failure of the bowel to return intothe abdomen by 10-12 weeks, failure of lateral mesodermal body folds to migrate centrally, and persistenceof the body stalk beyond 12 weeks gestation. Associated anomalies are common (45-88%).Chromosomal anomalies (40-60%): These include trisomies 18,13, and 21Cardiac defects (16-47%): These include ventricular and atrial septal defects, tetralogy of Fallot, pulmonaryartery stenosis, coarctation of the aorta,Genitourinary anomalies (40%): These include bladder extrophy and omphalocele, bladder extrophy,imperforate anus and spinal anomalies .Neural tube and head and neck anomalies: These include neural tube defects, holoprosencephaly,encephalocele,Gastrointestinal anomalies (40%): These include diaphragmatic hernia, malrotation, intestinal duplications,atresias, and ascites,Musculoskeletal anomalies (10-30%): This includes scoliosis, hemivertebra, and camptomelic dwarfism,.
  21. 21. Maternal/fetal developmental abnormalities: These include oligohydramnios, polyhydramnios, intrauterinegrowth restriction (IUGR),Beckwith-Wiedemann syndrome (5-10%)Ultrasound findings :An omphalocele is diagnosed when a fetal anterior midline abdominal mass is demonstrated.The mass consists of abdominal contents that have herniated through a midline central defect at the base of umbilicalcord insertion. The mean size of the defect is 2.5-5 cm. The mass has a smooth surface and contains abdominal viscera,usually the liver and including the bowel and stomach. The membrane is not always visible. Wharton jelly may bedetectable as a hypoechoic lining between the layers of the covering of the membrane.The umbilical cord attaches to the apex of the herniated mass.Fetal ascites is common and seen within the herniatedsac. Polyhydramnios, and occasionally oligohydramnios, may be present.3.Prune Belly Syndrome:The child with prune belly syndrome typically is male with a thin or lax abdominal wall and a long anddilated prostatic urethra from prostatic hypoplasia. A large, vertically oriented, thick-walled bladder; aurachal remnant from the dome of the bladder; and tortuous and dilated ureters. Varying amounts ofhydronephrosis and varying degrees of renal dysplasia are seen. All have cryptorchidism.Radiographic & ultrasonic findings:Chest: Hypoplastic lungs, flared lower ribs secondary to the distended abdomen are seen.Abdomen: Diffusely distended flanks are seen.Kidneys: Sonography of the kidneys shows diffusely hyperechoic parenchyma, small parenchymal cysts,clubbed dysplastic calyces, and markedly tortuous ureters, which is sufficient to make the diagnosis. Theincreased echogenicity of the parenchyma is an indicator of underlying dysplasia of the renal tissue duringearly differentiation and maturation. The bladder is usually large and thick-walled.Ureters: Ureters are markedly dilated and tortuousBladder: The bladder is vertical and trabeculated, with a urachal remnant at the dome.Urethra: A wide and long posterior urethra is seen with a utricular remnant.Cryptorchidism: The testes are in the abdomen or inguinal canals.
  22. 22. 5-Neonate with Intestinal ObstructionEtiology: 1. Duodenal Obstruction(atresia,stenosis,web) 2. Jejunal/ileal atresia. 3. Malrotation and mid gut volvulus. 4. Meconium Ileus. 5. Meconium Plug (Small left colon ) 6. Hirschprung disease. 7. Anorectal malformation.I-Hirschsprung Disease :Pathophysiology: The congenital absence of ganglion cells in the distal alimentary tract is the pathologicsine qua non of HD. The aganglionosis present in HD results from a failure of cells derived from the neuralcrest to populate the embryonic colon during development. This failure results from a fundamental defect inthe microenvironment of the bowel wall that prevents ingrowth of neuroblasts. So far, 8 genetic defects areknown to be associated with HD, including mutations to the endothelin-B receptor gene and the RET proto-oncogene. Because of the polygenic nature of HD, the penetrance of the condition is variable; it leads to thevariable manifestations of the disease.Anatomy: HD is regarded as a neurocristopathy because it involves a premature arrest of the craniocaudalmigration of vagal neural crest cells in the hindgut at weeks 5-12 of gestation to form the enteric nervoussystem. As a consequence, both intramural ganglion cells in the Meissner (submucosal) and Auerbach(myenteric) plexuses are absent. The anus is always involved, and a variable length of distal intestine maybe involved as well. The aganglionic, aperistaltic bowel segment effectively prevents the propulsion of thefecal stream, resulting in dilation and hypertrophy of the normal proximal colon.HD can be classified by the extension of the aganglionosis as follows: • Classical HD (75% of cases): The aganglionic segment does not extend beyond the upper sigmoid. • Long segment HD (20% of cases) • Total colonic aganglionosis (3-12% of cases)Some rare variants include the following: • Total intestinal aganglionosis
  23. 23. • Ultra-short-segment HD (involving the distal rectum below the pelvic floor and the anus.Clinical Details: Newborns with HD come to medical attention with the following symptoms: • Failure to pass meconium within the first 48 hours of life • Abdominal distension that is relieved by rectal stimulation or enemas • Vomiting • Neonatal enterocolitisSymptoms in older children and adults include the following: • Severe constipation • Abdominal distension • Bilious vomiting • Failure to thriveChildren presenting with abdominal distension, explosive diarrhea, vomiting, fever, lethargy, rectal bleeding,or shock may possibly have HAEC. The risk for HAEC is greatest before HD is diagnosed or after thedefinitive pull-through operation. Also, children with Down syndrome have an increased risk for HAEC.X-ray findings: Radiographs of the neonatal abdomen may show multiple loops of dilated small bowel withair-fluid levels that can usually be determined to be a distal bowel obstruction. An empty rectum is acommon finding. A cutoff sign in the rectosigmoid region, with an absence of air distally, is a useful finding inHAEC.HD is more definitively diagnosed by means of contrast enema examination, which can show the presenceof a transition zone, irregular contractions, mucosal irregularity, delayed evacuation of contrast material, andother findings.The transition zone is the term applied to the region in which a marked change in caliber occurs, with thedilated normal colon above and the narrowed aganglionic colon below. This sign is highly reliable of HD, buta failure to visualize this sign does not rule out HD.The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. Obviously, finding more than 1 sign increases the accuracy in diagnosis. Signs of HD afterbarium enema administration include the following: • Transition zone (often subtle during first week of life) • Abnormal, irregular contractions of aganglionic segment (rare) • Thickening and nodularity of colonic mucosa proximal to transition zone (rare) • Delayed evacuation of barium • Mixed barium-stool pattern on delayed radiographs • Distended bowel loops on plain radiographs that almost fill after contrast enema • Question mark–shaped colon in total colonic aganglionosisUltrasonic Findings: Although sonography is not the first imaging tool for diagnosing HD, diagnosis ispossible with real-time ultrasonography. Oestreich reported a case of unsuspected HD in a 1-month-oldbaby who went to the pediatrician for a check-up. A distended abdomen was noted. Sonography revealedthe same pattern that is observed in the barium enema examination, that is, a dilated sigmoid narrowing to anarrow rectum.Sonography may also help in determining the dynamic or adynamic state of fluid-filled or solid-filled bowelloops.
  24. 24. Hirschsprung disease. Frontal abdominal radiograph showing marked dilatation of the small bowel with no gas in the rectum.Hirschsprung disease. Lateral view from a barium enema examination depicting the reduced diameter of the rectum and sigmoid.
  25. 25. Hirschsprung disease. A 24-hour-delayed radiograph obtained after a barium enema examination shows retention of barium and stool in the rectum. This is associated with a dilated stool-filled sigmoid.II-Meconium Plug Syndrome:Background: Meconium plug syndrome, also termed functional immaturity of the colon, is a transientdisorder of the newborn colon characterized by delayed passage (>24-48 h) of meconium and intestinaldilatation. Contrast enema demonstrates the retained meconium as a filling defect or plug. that produces adouble-contrast effect. Small left colon syndrome is a subset of meconium plug syndrome in which anenema demonstrates an apparent transition zone between the dilated and the normal-to-decreased caliberdistal colon at the splenic flexurePathophysiology: Early descriptions of meconium plug syndrome emphasized the contrast-enemaappearance and ascribed a possible etiologic role to the retained meconium, which is often dislodged afterthe enema study. Currently, meconium plug syndrome is understood as a transient functional disorder of thecolon resulting from immaturity of the myenteric plexus nerve cells or their hormonal receptors. Thisdistinguishes it from Hirschsprung disease, which may have identical clinical and radiographic findings inwhich nerve cells are absent in the distal diseased portion of the colon.Anatomy: Anatomic changes in meconium plug syndrome vary. Usually, the colon is normal or may bemildly enlarged and filled with meconium. A change in the colons diameter at the splenic flexure may beseen and is indistinguishable from that observed in Hirschsprung disease, although in the latter disorder thetransition zone usually is in the rectosigmoid. In preterm infants weighing less than 1000 g, the entire colonmay be small, producing an enema appearance similar to ileal atresia or meconium ileus.Clinical Details: Clinically, the hallmarks of the disorder are abdominal distention and failure to passsignificant meconium in the first 24 hours of life. Bilious vomiting may occur. Symptoms often are presentbefore the first feeding, which helps distinguish the disorder clinically from necrotizing enterocolitis.The incidence is increased in premature infants of diabetic mothers (especially the small left colon variant)and in infants whose mothers received magnesium sulfate for treatment of toxemia. Newborns with cystic
  26. 26. fibrosis also may present with meconium plug syndrome, although meconium ileus is more frequent andcharacteristic in these patients. Despite these associations, many patients have no apparent risk factor.Radipgraphic Findings: Plain films usually demonstrate multiple dilated loops of bowel with absence ofrectal gas. The presence or absence of air-fluid levels in the bowel is not helpful. Findings are similar tothose of structural colonic or distal small bowel obstruction and help to exclude malrotation with volvulus orobstructing Ladd bands, in which the blockage usually occurs at the duodenum.Contrast enema usually shows a moderately dilated colon filled with radiolucent material (the meconiumplug). In the small left colon variant, a transition is seen from a relatively small to normal or increased caliberbowel in the region of the splenic flexure. lateral view from contrast enema in a newborn demonstrates a normal-to-decreased caliber "empty" distal colon and dilated proximal bowel containing multiple plugs. The child responded clinically and radiographically to a single enemaIII-Necrotizing Enterocolitis :Background: Necrotizing enterocolitis (NEC) is a serious gastrointestinal disease of unknown etiology inneonates. NEC is characterized by mucosal or transmucosal necrosis of part of the intestine. The verysmall, ill, infant who is born before term is most susceptible to NEC, and the incidence is increasing becauseof the improved survival rate in the high-risk group of infants born prematurely.Pathophysiology: Several factors contribute to the development of neonatal NEC. The underlyingpathology is the accumulation of gas in the submucosal layers of the bowel wall, which progresses tonecrosis. Outcomes include eventual necrosis of the bowel loops; perforation; systemic sepsis; and,sometimes, death. The regions of bowel most often affected are the right side of the colon and the distalileum, although any portion of the bowel is susceptible.The major or most common contributor to NEC is sepsis; however, indwelling vascular catheters, assistedventilation, respiratory acidosis, and hypoxemia all are contributing factors as well. NEC is primarily acomplication of prematurity with possible hypoxemia, acidosis, hypotension, sepsis, and stress. Theabnormality also occurs in ill full-term neonates, particularly those with a history of sepsis, hypoxia,asphyxia, or difficult resuscitation.Polycythemia, the use of hypertonic formulas or medicines, and a too-rapid establishment of feeding maycause mucosal injury. Epidemics of NEC are documented, and identified infectious agents includeClostridium perfringens, Escherichia coli, Staphylococcus epidermidis, and rotavirus.
  27. 27. Clinical Details: Onset occurs 2 weeks to several months after birth. Meconium is usually passed normally,and the initial signs of NEC include abdominal distention and gastric retention of fluid. Manifestations of thedisease develop after enteric feedings begin. Obviously bloody stool is observed in approximately 25% ofpatients. The onset of NEC can be insidious, and sepsis may occur before an intestinal abnormality is noted.The spectrum of presentations ranges from mild forms, with guaiac-positive stool, to severe forms, withperitonitis, bowel perforation, shock, and death. Progression may be rapid; progression of the disease after72 hours is usual.Pneumatosis is a late finding in NEC and usually indicates some necrosis of the bowel wall. The presence ofirritability, distention, and bowel distention, especially when associated with bloody stool, is diagnostic ofNEC.Radiographic Findings: A high index of suspicion is essential in the diagnosis of NEC.Abdominal radiographs may demonstrate multiple dilated loops of bowel that change little in their locationand appearance with sequential studies. Pneumatosis intestinalis, or gas in the wall of bowel in a linear orbubbly pattern, is present in 50-75% of patients. Portal venous gas and gallbladder gas indicate seriousdisease. Pneumoperitoneum indicates a perforation. CT or water-soluble enema examination may be usedto demonstrate pneumatosis or a site of perforation. Radiograph demonstrates multiple dilated loops in the large bowel and small bowel. Note pneumatosis intestinalis with bubbly and linear gas collections in the bowel wall. Anteroposterior image shows necrotizing enterocolitis with pneumatosis intestinalis.
  28. 28. Image shows free air secondary to bowel wall necrosis. Portal venous air is present in a patient with pneumatosis intestinalis.IV-Duodenal Atresia :Background: Duodenal atresia represents complete obliteration of the duodenal lumen. The duodenaldiaphragm or web is thought to represent a mild form of atresia. Duodenal stenosis (incomplete obstructionof the duodenal lumen) is discussed with duodenal atresia because they represent a spectrum of similarintrauterine events.Annular pancreas occurs when pancreatic tissue surrounds the second portion of the duodenum. If theencirclement is complete, it may be associated with complete or incomplete duodenal obstruction. Sinceduodenal atresia or stenosis occurs in all cases of annular pancreas, consider the anomalous pancreas asecondary change rather than a primary cause of duodenal obstruction.Pathophysiology: The etiology of duodenal atresia and stenosis is unknown. Failure of recanalization ofthe duodenal lumen remains the favored theory compared with intrauterine vascular ischemia.
  29. 29. During the third week of embryonic development, the second portion of the duodenum at the junction of theforegut and midgut forms biliary and pancreatic buds derived of endoderm. During the next 4 weeks, thesebuds differentiate into the hepatobiliary system, with the development and subsequent fusion of the 2pancreatic anlagen. Concurrently, the epithelium of the duodenum undergoes active proliferation, which, attimes, completely obliterates the duodenal lumen. Vacuolization, followed by recanalization, reestablishesthe hollow viscus.The second part of the duodenum is the last to recanalize. The early-forming biliary system consists of 2channels arising from the embryonic duodenum. This structure creates a narrow segment of bowel,approximately 0.125 mm in length, that is interposed between the 2 biliary channels. This narrow region isthe area most prone to problems, with recanalization and atresia formation. The ampulla of Vater usually isimmediately adjacent to or traverses the medial wall of the diaphragm. The presence of a bifid biliarysystem, or the insertion of one duct above and one duct below the atresia, is rare and occurs when bothbiliary duct anlagen remain patent. The presence of bile above and below the atresia indicates a bifid biliarysystem.Clinical Details: Bile-stained vomitus in neonates aged 24 hours or younger is the typical presentation ofatresia or severe stenosis. Minimal duodenal obstruction in mild stenosis or membrane may have fewsymptoms. In a few cases, the atresia is proximal to the ampulla of Vater and the vomitus is free of bile.Both duodenal anomalies can be associated with other GI and biliary tract abnormalities (malrotation,esophageal atresia, ectopic anus, annular pancreas, gallbladder or biliary atresia, vertebral anomalies). Inaddition, duodenal atresia can be associated with a duodenal diaphragm as well as congenital abnormalitiesin other systems. Examples include vertebral defects, anal atresia, tracheoesophageal fistula withesophageal atresia, and radial and renal anomalies (VATER) association and vertebral, anal, cardiac,tracheal, esophageal, renal, and limb (VACTERL) association. Anomalies of the kidneys can occur inVATER association. These are usually aplasia, dysplasia, hydronephrosis, ectopia, persistent urachus,vesicoureteral reflux, ureteropelvic obstruction, and other conditions.Radiographic Findings: The double-bubble sign represents dilatation of the stomach and duodenum. Thisconfiguration most commonly occurs with duodenal atresia and an annular pancreas. An annular pancreasis almost always associated with duodenal atresia.In a few cases of duodenal atresia, air can be observed distal to the area of obstruction. The anomaloushepatopancreatic ducts permit movement of air through a Y-shaped ductal system, with one limb proximal tothe obstruction and one limb distal to the atresia.When duodenal atresia is combined with esophageal atresia, no air is observed in the stomach, andbecause the stomach is obstructed at both ends, the infant presents with a large, opaque uppermidabdominal mass. If esophageal atresia is present with a distal fistula, air is present in the stomach andduodenum.Duodenal obstruction in the neonate may be partial or complete and secondary to intrinsic or extrinsicabnormalities. The duodenal bulb may be larger in duodenal atresia than in obstructions of the duodenum.Increased intramural pressure in duodenal obstruction can result in gastric pneumatosis.
  30. 30. Anteroposterior radiograph of abdomen depicts the double-bubble sign in duodenal atresia. 6-Patient with JaundiceEtiology: 1. Biliary atresia. 2. Caroli disease. 3. Choledochal cyst. 4. Cholecdochocele. 5. Cholelithiasis. 6. Diffuse hepatic parenchymal disease :Hepatitis-Fatty infiltration-Cirrhosis. 7. Hepatic Masses. 8. Hepatic veno-occlusive disease.I-Caroli Disease :Background: Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts. This is a rarecongenital disorder that classically causes saccular ductal dilatation, which usually is segmental. Carolidisease is associated with recurrent bacterial cholangitis and stone formation.Caroli disease also is known as communicating cavernous ectasia or congenital cystic dilatation of theintrahepatic biliary tree. It is distinct from other diseases that cause ductal dilatation caused by obstruction. Itis not one of the many choledochal cyst derivatives.Pathophysiology: Caroli disease involves congenital cystic dilatation of the intrahepatic biliary radicles ofthe liver. It is believed to have an autosomal-recessive inheritance pattern. It may be associated withautosomal-recessive polycystic kidney disease. The likely mechanism involves an in utero event that arrestsductal plate remodeling at the level of the larger intrahepatic bile ducts. Insufficient resorption of the ductal
  31. 31. plates leads to the formation of multiple primitive bile ducts surrounding the central portal vein. Theseenlarge, dilate, and become ectatic. This effect may be segmental.Two forms of Caroli disease exist: a simple or classic type and a second type that is associated withcongenital hepatic fibrosis. Drawing shows the main right hepatic duct and the multiple segmental branch dilatations related to Caroli disease. Note the saccular dilatations that can occur, involving the right lobe of liver in this case.Clinical Details:Dr J Caroli of France first described this hereditary (congenital) disease in 1958.Signs and symptomsPatients may have bilirubinemia and abdominal pain. They generally are febrile. Other complaints, such asnausea and vomiting, may be nonspecific. Liver function test results may be abnormal and include elevatedalkaline phosphatase levels. On examination, patients may have hepatomegaly, especially if they havehepatic fibrosis. Portal hypertension related to this may cause variceal bleeding. Elevation in white blood cellcounts and positive blood culture results suggest sepsis and cholangitis. Patients may have long symptom-free periods. Malignancy occurs in approximately 7% of patients.Other etiologies for these symptoms should be excluded. The differential diagnosis can include sclerosingcholangitis, oriental cholangitis, choledochal cyst, and hydatid disease.ComplicationsThe complications of Caroli disease, especially recurrent bouts of cholangitis, may be present first.Intrahepatic calculi and abscesses are common. Stone passage can cause pancreatitis.CT Findings: Dilated segmental intrahepatic biliary radicles are present without involvement of theextrahepatic biliary tree. Preinfused scans may show hyper-attenuating sludge and stones or debris.Hypo-attenuating, tubular branching structures are identified; these communicate and extend from the portahepatis toward the periphery. CT scan with IV contrast enhancement can show tiny dots, representingintraluminal portal veins, within the dilated intrahepatic bile ducts. This is termed the central dot sign. Take3D images with or without the CT cholangiographic technique to help prove the relationship of the dilatedstructure to the ductal system, although this is better accomplished with MRCP (see below). CT can helpdepict abscesses and guide percutaneous drainage.
  32. 32. CTComplications such as cholangitis, choledocholithiasis, or cholangiocarcinoma may be present and can beidentified with CT imaging. Portal hypertension can be present and result in hepatosplenomegaly withvarices. Contrast-enhanced images obtained through the kidneys can show associated multiple renal cysts.MRI Findings: Dilated segmental intrahepatic biliary radicles can be identified with MRI, as with CT andultrasonography. MRCP reveals similar findings and allows better review of the results, especially with acomputer workstation. This noninvasive 3D technique is a good alternative to ERCP or directcholangiography. This can confidently show the communication of the multiple cysts, which is mandatory forthe differential diagnosis with cystic disease of the liver and multiple abscesses. Complications of Carolidisease also can be identified with MRI.Ultrasonic Findings: Ultrasonography is very helpful. It is the examination of choice. Dilated segmentalintrahepatic biliary radicles are easily detected. No obstruction is present. The cystlike tubular anechoicspaces converge toward the porta hepatis. They are largest in the superior part of the liver. The intraluminalportal vein sign is related to the protrusion of the portal vein branches into the cyst wall. Color flow Dopplerultrasonography is helpful in showing blood flow in these branches but no flow is present in the bile-containing spaces. Portal branches bridge the cyst walls.Ultrasonography can also help in the diagnosis of complications and in the follow-up of patients with Carolidisease. Intraductal calculi are echogenic with acoustic shadowing.Ultrasonography-guided needle aspiration of bile from the cystlike lesions may be beneficial in the diagnosisof cholangitis and in confirming that the cysts communicate with the biliary tree. Congenital hepatic fibrosisis associated with Caroli disease and may be diagnosed with sonograms that show abnormal liverechogenicity. Ultrasonography-guided core biopsy may be performed, if necessary, to obtain liver samplesfor histologic evaluation to confirm this condition. In addition, polycystic renal disease, which is associatedwith Caroli disease, can be confirmed with sonography.Degree of Confidence: This is an excellent tool. A positive result has good predictive value and permitsdiagnosis with a high level of confidence. Caroli disease is the only condition in which dilated ducts surroundthe portal radicles; this finding at ultrasonography may obviate other invasive diagnostic techniques. 99mTcIsoyopic Findings: Hepatobiliary scintigraphy with technetium 99m iminodiacetic acid ( IDA) agentsreveals large, irregular, multifocal collections of the radiotracer in the liver. A beaded appearance in thedilated ducts, if present, is somewhat pathognomonic. These collections correspond to the segmentaldilatations, and no extrahepatic obstruction is present, although bile stasis and stone formation may result inatypical obstruction.On early images, if the ducts are dilated enough, they appear as photopenic branching areas within the liver.Single photon emission computed tomography (SPECT) may better outline the ductal pattern but it is mosthelpful in the evaluation of focal disease.
  33. 33. II-Choledochal Cyst :Background: Choledochal cysts are congenital anomalies of the bile ducts. They consist of cysticdilatations of the extrahepatic biliary tree, intrahepatic biliary radicles, or both. The first anatomic study of acholedochal cyst in the Western literature was published by Vater and Ezler in 1723. Douglas is creditedwith the first clinical report in a 17-year-old girl who presented with intermittent abdominal pain, jaundice,fever, and a palpable abdominal mass.Alonso-Lej et al provided the first systematic description of choledochal cysts in 1959 based on the clinicaland anatomic findings in 96 cases. The resultant system classified choledochal cysts into 3 types andoutlined therapeutic strategies for each. The classification system for choledochal cysts was further refinedby Todani et al and currently includes 5 major types (Todani, 1977).Pathophysiology: The pathogenesis of choledochal cysts is most likely multifactorial. Some aspects of thedisease are consistent with a congenital etiology, others with a congenital predisposition to acquiring thedisease under the right conditions.The vast majority of patients with choledochal cysts have an anomalous junction of the common bile ductwith the pancreatic duct (anomalous pancreatobiliary junction [APBJ]). An APBJ is characterized when thepancreatic duct enters the common bile duct 1 cm or more proximal to where the common bile duct reachesthe ampulla of Vater.Anatomy: The following discussion of the pertinent anatomy of choledochal cysts is based on the Todaniclassification published in 1977. • Type I choledochal cysts are most common and represent 80-90% of the lesions. Type I cysts are dilatations of the entire common hepatic and common bile ducts or segments of each. They can be saccular or fusiform in configuration. Type I cysts can be divided into 3 subclassifications, including type IA cysts, which are typically saccular and involve the entire extrahepatic bile duct (common hepatic duct plus common bile duct) or the major portion of the duct. • Type II choledochal cysts are relatively isolated protrusions or diverticula that project from the common bile duct wall. They may be sessile or may be connected to the common bile duct by a narrow stalk. • Type III choledochal cysts are found in the intraduodenal portion of the common bile duct. Another term used for these cysts is choledochocele. • Type IVA cysts are characterized by multiple dilatations of the intrahepatic and extrahepatic biliary tree. Most frequently, a large solitary cyst of the extrahepatic duct is accompanied by multiple cysts of the intrahepatic ducts. Type IVB choledochal cysts consist of multiple dilatations that involve only the extrahepatic bile duct. • Type V choledochal cysts are defined by dilatation of the intrahepatic biliary radicles. Often, numerous cysts are present with interposed strictures that predispose the patient to intrahepatic stone formation, obstruction, and cholangitis. The cysts are typically found in both hepatic lobes. Occasionally, unilobar disease is found and most frequently involves the left lobe.Clinical Details: Some patients do not present until adulthood. In many adult patients, subclinical bile ductinflammation and biliary stasis have been ongoing for years. Adults with choledochal cysts can present withhepatic abscesses, cirrhosis, recurrent pancreatitis, cholelithiasis, and portal hypertension.The clinical history and presentation of a patient with a choledochal cyst varies with the patients age. Overtdramatic signs and symptoms are more common in infancy, whereas manifestations are more subtle andprotean in adulthood.Infants frequently come to clinical attention with jaundice and the passage of acholic stools. If thispresentation occurs in early infancy, a workup to exclude biliary atresia may be initiated. Infants withcholedochal cysts can have a palpable mass in the right upper abdominal quadrant; this may beaccompanied by hepatomegaly.
  34. 34. Children in whom the condition is diagnosed after infancy present with a different clinical constellation, whichincludes intermittent bouts of biliary obstructive symptoms or recurrent episodes of acute pancreatitis.Children in whom biliary obstruction is present may also have jaundice and a palpable mass in the rightupper quadrant. The correct diagnosis is occasionally more difficult in children with pancreatitis. Often, theonly clinical symptoms are intermittent attacks of colicky abdominal pain. Eventually, an analysis ofbiochemical laboratory values reveals elevations in amylase and lipase levels. This leads to the properdiagnostic imaging workup.Adults with choledochal cysts frequently complain of vague epigastric or right upper quadrant abdominalpain. Indeed, the most common symptom in adults is abdominal pain. A classic clinical triad of abdominalpain, jaundice, and a palpable right upper quadrant abdominal mass has been described in adults withcholedochal cysts, although this is found in only 10-20% of patients. Cholangitis can be part of the clinicalpresentation in adult patients with biliary obstruction.Choledochal cysts not appearing until adulthood can be associated with a number of serious complicationsresulting from long-standing biliary obstruction and recurrent bouts of cholangitis. These includecholelithiasis, severe pancreatitis, hepatic abscesses, hepatic cirrhosis, and portal hypertension.CT Findings: Abdominal CT scanning is useful in the diagnostic algorithm for choledochal cysts. CT ishighly accurate and offers a great deal of information that is helpful not only in confirming the diagnosis butalso in planning surgical approaches.CT scans of a choledochal cyst demonstrate a dilatated cystic mass with clearly defined walls, which isseparate from the gallbladder. The fact that this mass arises from or actually is the extrahepatic bile ductusually is clear from its location and its relationships to surrounding structures. The cyst is typically filled withbile, which produces water-like attenuation. Depending on the patients age and clinical history, the wall ofthe cyst can appear thickened, especially if multiple episodes of inflammation and cholangitis have occurred.Most patients with choledochal cysts have undergone abdominal US imaging prior to CT scanning. USfindings suggest the diagnosis in most patients and may be conclusive in many. According to Lipsett andcolleagues, CT scanning confirms the diagnosis if it is unclear and provides information concerning therelationships of the cyst to surrounding structures including the portal vein, duodenum, and liver. In addition,CT scanning is superior to US in defining the extent of the cyst in the extrahepatic biliary system and indetecting intrahepatic disease.Recently, CT cholangiography has been used in the diagnosis of choledochal cysts. Spinzi and colleaguespublished a case report describing CT cholangiography in the diagnosis of a type I choledochal cyst in anadult. The cyst and its extent were demonstrated clearly. The authors did note the need to use retrogradebiliary contrast enhancement or intravenous contrast enhancement, and they stated that MRcholangiography may one day obviate CT cholangiography.
  35. 35. Large type I choledochal cyst and adjacent gallbladder.MRI Findings: Use of MRI and MRCP techniques is increasing dramatically for the noninvasive diagnosis ofbiliary and pancreatic diseases. Choledochal cysts are no exception. These cysts appear as large fusiformor saccular masses that may be extrahepatic, intrahepatic, or both, depending on the type of cyst. Theyproduce a particularly strong signal on T2-weighted images. Associated anomalies of the pancreatic duct, itsjunction with the common bile duct, and the long common channel formed by the 2 are usually welldemonstrated on MRI/MRCP images.Ultrasonic Findings: US is the initial screening examination of choice in patients with choledochal cysts.Pertinent findings include a cystic extrahepatic mass. Depending on the skill of the operator, the specifictype or class of choledochal cyst may be identified. Newer high-resolution US machines help clinicians makesuch diagnoses. Furthermore, advances in US technology have enabled ultrasonographers to make thediagnosis in the antenatal period.US findings are diagnostic in many patients; however, in the preoperative period, complementary studies,such as ERCP, CT, or MRI/MRCP, may be helpful in delineating details of the surrounding anatomy, thelocation of an APBJ, and the length of the common pancreatobiliary channel.Abdominal US findings can help in detecting associated conditions and complications of choledochal cysts,such as choledocholithiasis, intrahepatic biliary dilatation, portal vein thrombosis, gallbladder or biliaryneoplasms, pancreatitis, and hepatic abscesses.The importance of abdominal US in this disease process cannot be understated. This is highlighted by thefact that US findings initially suggested the diagnosis in many of the studies dealing with other diagnosticmodalities referenced in this article.
  36. 36. Diagnostic sonogram demonstrating a type I choledochal cyst in a 4-month-old child presenting with elevated hyperbilirubinemia and hepatic transaminase levels.Isotopic Findings: Hepatobiliary scintigraphic modalities are used commonly in the setting of acutecholecystitis and in the investigation of neonatal jaundice. In addition, these techniques are useful in thediagnosis of choledochal cysts.Kao and co-investigators studied the significance of nonvisualization of the gallbladder on cholescintigraphyin 27 patients with choledochal cysts. Nonvisualization of the gallbladder occurred in 18 (67%) of 27 patientsat 4 hours after injection of the radionuclide. Most of the patients did not have acute cholecystitis. Theauthors concluded that nonvisualization of the gallbladder in this patient population is not necessarilyindicative of acute cholecystitis and that large choledochal cysts may compress the gallbladder, leading tononvisualization. Surgical specimen
  37. 37. 7-Patient with Abdominal PainEtiology : 1. Appendicitis. 2. Pancreatitis. 3. Crhon’s disease 4. Colitis :Ulcerative/Pseudomembranous/Neutropenic. 5. Meckel’s diverticulitis. 6. Cholecystitis. 7. Ovarian cyst complications (torsion/rupture/infection) 8. Urinary causes (stones/pyelonephritis) 9. Intussusception. 10. Volvulus (gastric-mid gut volvulus-caecal-sigmoid ) 11. hematocolpos 12. Sickle cell crisis (splenic /bowel infarction) 13. Referred from pneumonia US show dilated lind ended bowel loop segment :Appendicitis 8-Hypertensive ChildEtiology : 1. Renal Cortex scarring (36%). 2. Glomerulonephritis (23%) 3. Co-arctation of Aorta (10% ) 4. Fibromuscular dysplasia of renal arteries (10%) 5. Phaeochromocytoma-functioning neuroblastoma (3%) 6. Polycystic renal disease (6%)
  38. 38. 7. Hemolytic Uremic syndrome (4%) 8. Renal tumors (2%) 9. Essential (3%). MCUG :Bilteral Grade 5 reflux with right duplex kidney 9-Child with scrotal Problems A-Scrotal PainEtiology : 1. Epididymo-orchitis. 2. Testicular torsion. 3. Testicular abscess. 4. Varicoceke. 5. Complicated Hernia. 6. Hematoma. B-Scrotal MassesEtiology : 1. Neoplastic : • Primary :a) Germ Cell tumor (70-90%)..Yolk sac tumor-teratoma. b)Sex cord stromal tumors (10-30%) • Secondary :Leukemia-lymphoma- Wilms tumor. 2. Non neoplastic : 3. Hydrocele. 4. Spermatocele. 5. Epididymal cyst.
  39. 39. III-CNS and Head &Neck 1.Patient with a neck massEtiology : 1. Branchial cleft cyst. 2. Thyroglossal cyst. 3. Thyroid masses. 4. Lymphadenopthies. 5. Retropharyngeal abscess . 6. Fibromatosis Coli. 7. Dermoid and dermoid cysts. 8. Rhabdomyosarcoma. 9. 11 .Salivary gland origin (cysts-masses ) 2.Patient with abnormal skin findingsEtiology : 1. Neurofibromatosis. 2. Tuberous Sclerosis. 3. Sturge Weber Syndrome. 4. Von-Hipplel Lindau syndrome. 5. Ataxia Telangiectasia. 6. Gorlin Syndrome. 7. Cowden syndrome. 8. Klippel –Trenauny syndrome. 9. Wyburn-Mason syndrome.
  40. 40. Sturge Weber syndrome :Small left cerebral hemisphere ,gyral calcifications. 3-Patient with ProptosisEtiology :A-Extraconal lesions :Dermoid cyst.Rhabdomyosarcoma.Dacryocystocele.Orbital Abscess.B-Intraconal Lesions:Orbital Pseudotumor.Hemangioma.Optic nerve glioma.Meningioma.Tolosa Hunt Syndrome.Retinoblastoma. Right intraconal mass -Rhabdomyosarcoma
  41. 41. CT:Persitent Hyperplastic primary vitreous Right orbital haemangioma 4-Patient with EpilepsyEtiology: 1. Perinatal accident (40%) 2. Congenital anomalies and phakomatosis (40%) 3. Post Hypoxic Ischemic Encephalopathy (10% ) 4. Cerebral trauma (10% ) 5. Cerebral tumors (1 % )Causes of epilepsy according to age :
  42. 42. Age CausesNeonate Anoxia- Neural malformation- Post infectious.Infant Anoxia-malformation-post infectious –Sturge Weber Syndrome-Tuberous sclerosis- Aicardi syndrome-Mitochondrial diseases.Children Ischemia –infection-traumaNewly discovered Tumor –Vascular malformations (AVM-Cavernoma)-Neural malformation (Corticalepilepsy dysplasia- Hippocampal sclerosis)-Hypothalamic hamartoma.Specific diagnosis :1.Holoprosencephaly:Holoprosencephaly denotes an incomplete or absent division of the embryonic forebrain (prosencephalon)into distinct lateral cerebral hemispheres.De Myer categorized holoprosencephaly into 3 types (from most severe to least severe): (1) alobarholoprosencephaly, or complete absence of midline forebrain division resulting in a monoventricle and fusedcerebral hemispheres; (2) semilobar holoprosencephaly, or incomplete forebrain division resulting in partialseparation of cerebral hemispheres, typically posteriorly; and (3) lobar holoprosencephaly, or completeventricular separation with focal areas of incomplete cortical division or anterior falcine hypoplasia.2.Schizencephaly :Schizencephaly is an uncommon disorder of neuronal migrational characterized by a cerebrospinal fluid–filled cleft, which is lined by gray matter. The cleft extends across the entire cerebral hemisphere, from theventricular surface (ependyma) to the periphery (pial surface) of the brain.The clefts may be unilateral or bilateral and may be closed (fused lips), as in schizencephaly type I, orseparated (open lips), as in schizencephaly type II. Open lip Schizencephaly3.Heterotopia:Gray-matter heterotopia means collections of gray matter in abnormal locations.It can be nodular or laminar.
  43. 43. Heteropic gray matter 5-Patient in STROKEEtiology: 1. Hypoxic Ischemic encephalopathy. 2. Venous thrombosis ..(extension of infection) 3. Moya Moya disease . 4. Vein of Galen Malformation. 5. Arteriovenous malformations. 6. Cavernous hemangioma.Cerebral aneurysms.Hypoxic Ischemic Encephalopathy :In spite of major advances in monitoring technology and knowledge of fetal and neonatal pathologies, perinatalasphyxia or, more appropriately, hypoxic-ischemic encephalopathy (HIE), remains a serious condition, causingsignificant mortality and long-term morbidity.Brain hypoxia and ischemia due to systemic hypoxemia, reduced cerebral blood flow (CBF), or both are the primaryphysiological processes that trigger HIE. The initial compensatory adjustment to an asphyxial event is an increase inthe CBF due to hypoxia and hypercapnia. In adults, CBF is maintained at a constant level despite a wide range insystemic BP. This phenomenon is known as the cerebral autoregulation, which helps to maintain the cerebral perfusion.Limited data on the preterm infant suggests that a range of blood pressures exist over which cerebral blood flow isstable.Some experts have postulated that in the healthy term newborn the BP range at which the CBF autoregulation ismaintained is quite narrow (perhaps between 10-20 mm Hg, compared to the 40 mm Hg range in adults noted above).In the fetus and newborn suffering from acute asphyxia, after the early compensatory adjustments fail, the CBF canbecome pressure-passive, at which time brain perfusion is dependent on systemic BP. As BP falls, CBF falls belowcritical levels, and the brain continues to suffer from diminished blood supply and a lack of sufficient oxygen to meetits needs. This leads to intracellular energy failure. During the early phases of brain injury, brain temperature drops, andlocal release of the neurotransmitter, such as g-aminobutyric acid transaminase (GABA), increase. These changesreduce cerebral oxygen demand, transiently minimizing the impact of asphyxia.At the cellular level, neuronal injury in HIE is an evolving process. The magnitude of the final neuronal damagedepends on both the severity of the initial insult and the damage due to reperfusion injury and apoptosis . The extent,nature, severity, and the duration of the primary injury are all important in affecting the magnitude of the residualneurological damage.Following the initial phase of energy failure from the asphyxial injury, cerebral metabolism may recover, only todeteriorate in the secondary phase, or reperfusion. This new phase of neuronal damage, starting at about 6-24 hours
  44. 44. after the initial injury, is characterized by cerebral edema and apoptosis. This phase has been called the "delayed phaseof neuronal injury."Additional factors that influence outcome include the nutritional status of the brain, severe intrauterine growthrestriction, preexisting brain pathology or developmental defects of the brain, and the frequency and severity ofseizure disorder that manifests at an early postnatal age (within hours of birth).At the biochemical level, a large cascade of events follow HIE injury. Both hypoxia and ischemia increase the releaseof excitatory amino acids (EAAs), such as glutamate and aspartate, in the cerebral cortex and basal ganglia. EAAscause neuronal death through the activation of receptor subtypes such as kainate, N-methyl-D-aspartate (NMDA), andamino-3-hydroxy-5-methyl-4 isoxazole propionate (AMPA). Activation of receptors with associated opening of ionchannels (eg, NMDA) lead to increased intracellular and subcellular calcium concentration and cell death.A second important mechanism for the destruction of ion pumps is the lipid peroxidation of cell membranes, in whichenzyme systems, such as the Na+/K+-ATPase, reside; this can cause cerebral edema and neuronal death. EAAs alsoincrease the local release of nitric oxide (NO), which may exacerbate neuronal damage.The EAAs may also disrupt the factors that control apoptosis, increasing the pace and extent of programmed cell death.The regional differences in severity of injury may be explained by the fact that EAAs particularly affect the CA1regions of the hippocampus, the developing oligodendroglia, and the subplate neurons along the borders of theperiventricular region in the developing brain. This may be the basis for the disruption of long-term learning andmemory faculties in infants with HIE.Role of Imaging :o A CT scan of the head can be especially useful to confirm cerebral edema (obliteration of cerebral ventricles,blurring of sulci) manifested as narrowness of the lateral ventricles and flattening of gyri. Areas of reduced densitythat indicate evolving zones of infarction may be present. Evidence of hemorrhage in the ventricles or in the cerebralparenchyma may also be seen..An early diagnosis may help in obtaining early neurosurgical consultation and, possibly, surgical therapy.MRI is valuable in moderately severe and severe HIE, particularly to note the status of myelination, to note white-graytissue injury, and to identify preexisting developmental defects of the brain. Diffusion-weighted MRI scans are alsouseful early in the course of treatment to identify those areas of the brain with edema.However the easy access to CT ,and its more accurate demonstration of bleeding put itself in a prominent position inevaluation of HIE .CT depicts focal, multifocal, and generalized ischemic lesions. In the first few days after a severe hypoxic-ischemicinsult, bilateral hypoattenuations are seen and probably reflect both neuronal injury and edema. CT neuropathologicstudies show that areas of edema are correlated with hypoattenuation lesions when autopsy is performed within 10 daysof CT, but generalized edema may obscure focal ischemic lesions. Diffuse cortical injury is not initially detected onCT. After days to weeks, diffuse hypoattenuation may appear, with loss of the gray matter–white matter differentiation.Diffuse cerebral atrophy with ex vacuo ventricular dilatation due to severe hypoxemic insult may take several weeks todevelop. Atrophy is a consequence of cortical and white-matter destruction.CT scanning can be performed to help reliably diagnose generalized edema in the premature newborn.In partial asphyxia ,there is relative preservation of blood flow to the basal ganglia and brain stem ,the “watershedzones “ between the major arterial territories being most affected .After 48 hours, CT may depict focal ischemic infarcts well. On the first day after a focal thromboembolic event, theischemic area may not be visible on CT. A CT scan depicting hypoattenuation in the distribution of the left middlecerebral artery in the first day of life suggests prenatal-onset of ischemia. Symptoms of a focal infarct (usually seizures)on the first day of life with normal CT findings and with hypoattenuation developing over the first week suggestperinatal-onset ischemia. Hemorrhagic conversion of a focal ischemic lesion is uncommon in the neonatal period, butCT can depict it easily.
  45. 45. Rt occipital infarctionA CT scan demonstrating generalized, diffuse hypoattenuation after a hypoxic-ischemic event is predictive ofboth neonatal death and long-term severe disability, whereas normal CT findings are predictive of milddisability or a normal outcome.Regions of high metabolic activity are at risk during profound asphyxia.Sites of active myelination ,such as theposterior limbs o internal capsule and perirolandic regions are particularly vulnerable .Severe cerebral edema may produce the so-called reversal sign The cerebral white matter has greater Ct density thanthe gray matter.This reversal of density is felt due to accumulation of blood in the capillaries and veins of the white matter because ofincreased intracranial and venous pressure.Status marmoratus is a rare manifestation of profound HIE ,that occurs in term infants.Hyprermyelination,neuronal loss ,and gliosis occur in the thalami and basal ganglia .There may be hypodensity seenacutely on CT due to edema and necrosis .Hyperdensity may then develop due to hemorrhage or mineralization in these anantomic regions .In somecases ,due to relative preservation of perfusion of the posterior fossa and brain stem ,these structures appeardense when compared with the rest of the brain producing the so-called White cerebellum sign . Status marmoratus .Reversal sign indicates an extremely poor prognosis ;profound atrophy frequently follows this severe asphyxic injuryand there may be cystic or cavitary changes ,mineralization ,and gliosis .CT may depict hemorrhagic lesions, which are seen in 10-25% of patients with HIE .. These lesions includeintraparenchymal, intraventricular, and subarachnoid hemorrhages.Occlusive disease may affect one or more specific vascular distribution. Emboli are flow directed and principallyocclude vessels in the middle cerebral artery territoryIn vascular thrombosis the vessel may be hyperattenuating due to clotted blood . CT may also depict the delta sign(clot in the sinus) or the empty delta sign (partially recanalized clot in the sinus).On CT, PVL can be visualized around the frontal horns or posteriorly around the trigonal area of the lateral ventricles.PVL appears as a region of decreased attenuation, occasionally intermixed with areas of increased attenuation due tosecondary hemorrhage. Periventricular hypoattenuations should be interpreted carefully because maturation andmyelination processes increase the lipid and protein content but the water content of the white matter. These changesexplain the findings of hypoattenuations in neonates with normal development.
  46. 46. 6-Patient with DeafnessEtiology :A-Congenital causes: 1. External auditory canal atresia. 2. Middle ear cavity hypoplasia. 3. Absence, rotation ,fusion or dysplasia of ossicles. 4. Treacher Collins dysplasia. 5. Inner ear anomalies : 6. Malformation of lateral semicircular canal . 7. Michel deformity =complete labyrinthine aplasia. 8. Large common cavity (vestibule &cochlea). 9. Cochlear aplasia/hypoplasia. 10. Mondini Malformatiom(less than 21/2 turn of cochlea.-most common) 11. 6.Internal auditory canal atresia and stenosis. 12. 7.Vestibular aqueduct dilatation or obliteration.B-Inflammatory lesions: 1. Otitis media and mastoiditis. 2. Otitis externa.C-Neoplastic lesions: 1. Congenital Cholesteatoma. 2. Fibrous dysplasia. 3. Bony exostosis. 4. Nerve shealth tumors. 5. Glomus tumors. 6. Metastasis. 7. Rhabdomyosarcoma. 8. Langerhans cell histiocytosis. D-Traumatic lesions: E-Vascular causes:
  47. 47. Aberrant course of ICA.High jugular bulb position. 7-Child with neurological signs of a spinal cord lesion.Etiology : 1. Extradural causes. 2. Intradural/extramedullary causes. 3. Intramedullary causes. 8-Neonate with spinal dysraphismPathophysiology: The defect of spinal dysraphism occurs in the first 8.5 weeks of fetal life. The neural tube developsfrom ectodermal cells, while mesoderm forms the bony elements, meninges, and muscle. The skin is separated from theneural tube by the mesoderm. Incomplete separation of ectoderm from the neural tube results in cord tethering,diastematomyelia, or a dermal sinus. Premature separation of the cutaneous ectoderm from the neural tube results inincorporation of mesenchymal elements between the neural tube and skin, which may result in the development oflipomas. If the neural tube fails to fuse in the midline posterior spinal abnormalities such as myelomeningoceles occur.Types :===== 1. Spina bifida Aperta (open)Myeloschisis.Cranioschisis.Dorsal meningocele.Myelomeningocele.Myelocele.Chiari II malformation. 2. Spina bifida occulta ( occult)Lipomyelomeningocele.Lipoma.Congenital dermal sinus.Tethered cord .Myelocystocele.Meningocele.Split notochord syndrome. 3. Associations .Hydromelia.Hemimyelocele.Developmental tumor
  48. 48. Role of imaging:MRI findings:MRI findings include absent posterior bony elements at the site of the defect. The soft tissue sac containing CSF maybe obvious, and the conus is invariably low, coursing dorsally within a capacious dural sac.Inclusion dermal tissue is generally evident as a rounded mass with variable signal intensity often greaterthan that of the surrounding CSF.Arnold-Chiari II malformations are noted in nearly all cases of myelomeningocele.The small posterior fossa, low insertion of the tentorium, and downward displacement of cerebellar tissueand medulla through a widened foramen magnum are obvious. When the medullary migration is not vertical,the characteristic cervicomedullary kink is noted.Syringomyelia of the cervical cord or syringobulbia and progressive dilatation of the fourth ventricle mayaccount for worsening neurological deficit. Additional findings in Chiari II malformation include partialagenesis of corpus callosum, large massa intermedia, and a beaked tectum. Rarely, a Chiari I malformationis associated with myelomeningoceles in which only the tonsils herniate below the foramen magnum.A tethered cord manifests itself as a low conus and associated spinal lesions. By the age of 2 months, aconus below L2-L3 is considered abnormal. Axial T1-weighted images are most accurate in determining theconus level.A low cord invariably occurs with a myelomeningocele and retethering may occur after repair.Posterior neural arch defects and an increase interpedicular distance are often associated with alumbosacral lipoma. T1-weighted images have high sensitivity in the detection of lipomas because of theshort relaxation time of fat. The fat content may also be confirmed by using fat-saturation techniques.The diagnosis of a thickened filum is made when the filum measures more than 2 mm at the L5-S1 diskspace.In diastematomyelia, MRI is used to evaluate the extent of cord clefting, a low position of the conus,scoliosis, other bony anomalies, and the commonly associated syringohydromyelia. The bony spur is wellseen on T1-weighted MRIs when fatty marrow is present.Dermoids and epidermoids may be associated with a dermal sinus or occur in isolation. When notassociated with dermal sinuses, they may occur with progressive compressive myelopathy or acute onsetchemical meningitis due to the rupture of the cyst and the spread of cholesterol crystals in the CSF. Thethoracic lumbar and sacral spine are affected, with a slight increase in incidence in the craniocaudaldirection.Lipomas are hyperintense on T1-weighted MRIs. Spinal lipomas are usually found in the extradural spacein the thoracic region.
  49. 49. T1- and T2-weighted sagittal MRIs of the lumbar spine show an extradural spinal lipoma communicating withthe subcutaneous fat. 9-Abnormal skull shapeCraniosynostosis:Background: Craniosynostosis is the premature fusion of the cranial sutures. Craniosynostosis can occuras an isolated defect or as part of a syndrome. Craniosynostosis is called simple when only 1 suture isinvolved and compound when 2 or more sutures are involved.Pathophysiology: In the recent literature, mutations in genes coding for fibroblast growth factor receptors(FGFRs) in affected families have been reported. The receptors mediate the effects of the fibroblast growthfactors that modulate cellular processes, such as growth, differentiation, migration, and survival. FGFR2mutations, located on chromosome 7, have been recognized in Crouzon disease and Apert, Jackson-Weiss,and Pfeiffer syndromes. Some cases of Pfeiffer syndrome and Crouzon disease involve mutations in boththe FGFR1 and FGFR3 genes. These mutations account for a small fraction of cases of craniosynostosis,because most cases have an unclear etiology.With the use of immunocytochemistry techniques, abnormal osteoblastic activity has been observed withinthe synostotic bone, along with decreased growth rate and alkaline phosphatase production. Histopathologicexaminations of resected sutures demonstrate new bone formation at various stages. These stages rangefrom trabecular interdigitation across the fibrous tissue to complete bony fusion.Mortality/Morbidity: In most patients with craniosynostosis involving a single suture, the primary concern iscosmetic. Early diagnosis and surgical therapy are essential to prevent lifelong craniofacial deformity. Patients withdiffuse craniosynostosis are at risk of developing increased intracranial pressure (ICP). Patients can have airwayproblems because of a hypoplastic maxilla or ophthalmologic problems related to shallow orbits.Anatomy: The bones of the cranium (frontal, parietal, temporal, and occipital) are well developed by the fifthmonth of gestation. The membranous skull bones are joined by connective tissue at the sagittal, coronal,metopic, lambdoid, and squamosal sutures. The anterior fontanel is at the junction of the frontal and parietalbones, and it represents the intersection of the metopic, coronal, and sagittal sutures. It normally closes inchildren by the age of 20 months. The posterior fontanel, located at the junction of the lambdoid and sagittalsutures, closes by the age of 3 months. Mature suture closure occurs by the age of 12 years, but completionof fusion continues into the third decade of life and beyond.Clinical Details: Skull growth is restricted in the plane perpendicular to the prematurely fused suture andenhanced in the plane parallel to it.
  50. 50. Synostosis of the sagittal suture produces a long and narrow skull, called scaphocephaly ordolichocephaly. The anteroposterior diameter of the skull is increased, whereas the transverse diameter isdecreased. Sagittal synostosis is seen most commonly in males. Although the biparietal diameter is low, theactual head volume is normal; therefore, no increase in ICP, no hydrocephalus, and no neurologic deficitsare usually present. Associated anomalies are seen in 26% of patients. Craniosynostosis. Sagittal synostosis. Markedly increased anteroposterior diameter of the head (dolichocephaly) with flattening of the superior contour is noted.Synostosis of the coronal suture can occur bilaterally or unilaterally and is called brachycephaly andplagiocephaly, respectively. Brachycephaly results in a short, wide skull, with a shortened anteroposteriordiameter with a flattened occiput and forehead. Brachycephaly is seen more commonly in females and has ahigher incidence of neurologic complications, including increased ICP, optic atrophy, and mentalretardation. (In contrast, isolated sagittal synostosis is usually associated with normal intellectual function.)A higher incidence of anomalies also is associated, ie, 33% when 1 suture is affected and as high as 59%when both coronal sutures are affected. Craniosynostosis. Coronal synostosis. The anteroposterior diameter of the head is shortened (brachycephaly), with partially fused coronal sutures and a widened sagittal suture.
  51. 51. Craniosynostosis. Combined synostosis also demonstrating plagiocephaly. Anteroposterior view in a newborn with combined fusion of sagittal and coronal suturesSynostosis of the lambdoid sutures is less common than sagittal and coronal synostosis. A marked flatteningand underdevelopment of the posterior fossa are present, and overgrowth of the bregma may occur,resulting in a tall shape called oxycephalic or turricephalic skull. Apert syndrome. Markedly deformed tower-shaped head resulting from premature fusion of all cranial suturesSynostosis of the metopic suture occurs in utero. It is rare and called trigonocephaly. It results in a pointedforehead and hypotelorism, with an increased risk for associated anomalies of the forebrain. Otheranomalies often encountered include cleft palate, coloboma, and a wide array of urinary tract abnormalities.
  52. 52. Trigonocephaly. Oblique view of the skull shows a ridge or keel in the midline of the frontal bone due to early fusion of metopic suture (arrow).A combined synostosis of the coronal and sagittal sutures results in a severe form termed oxycephaly,which leads to microcephaly. In addition, increased ICP is associated with significant neurologiccomplications.The most severe form is called the kleeblattsch‫ن‬del deformity or cloverleaf skull, in which the coronal,sagittal, and lambdoid sutures are all affected. The skull resembles a cloverleaf shape, and patients typicallyhave a bulging forehead, proptotic eyes, and severe neurologic impairment.The most common syndrome-associated synostoses are Crouzon disease and Chotzen and Apertsyndromes, which account for more than two thirds of syndrome-related craniosynostosis. • Asymmetric craniosynostosis and plagiocephaly characterize Chotzen syndrome, which is inherited as an autosomal dominant trait and associated with facial asymmetry, ptosis of the eyelids, shortened fingers, a low frontal hairline, a long pointed nose, and soft tissue syndactyly. Cervical fusion is often seen at the level of the C2-C3 vertebrae. • Crouzon disease is inherited as an autosomal dominant trait in 75% of patients, whereas the remaining cases are sporadic. The shape varies depending on the order of fusion, but it most commonly results in brachycephaly due to closure of the coronal and basal skull sutures. Associated findings include ocular proptosis, maxillary hypoplasia, parrot-beak nose, and ocular hypertelorism with normal limbs. Hydrocephalus is more common than in the other syndromes. Chronic tonsillar herniation is a common MRI finding that is seen in patients with Crouzon disease. • Apert syndrome (acrocephalosyndactyly) is an autosomal dominant disorder characterized by coronal synostosis in conjunction with a malformed and short cranial base. It is associated with extensive syndactyly of the second, third, and fourth fingers (mitten hands), broad thumbs with radial deviation, toe syndactyly (sock toes), and visual impairment. Risk of mental retardation is increased; one half of patients have an intelligence quotient lower than 70. Cervical vertebrae fusion, primarily at the C5-C6 vertebrae, occurs in 68% of patients. • Carpenter syndrome is inherited as a rare autosomal recessive trait and usually results in the kleeblattsch‫ن‬del deformity. Soft tissue syndactyly is always present in the hands and feet. Mental retardation is common. o Pfeiffer syndrome is autosomal dominant and differs from Apert syndrome by the presence of polydactyly. • Jackson-Weiss syndrome is mapped to the same gene as Crouzon disease. It results from coronal and basal skull synostosis. Associated findings include enlarged great toes and craniofacial abnormalities similar to those found in Pfeiffer syndrome but in the absence of the thumb abnormalities. • Each syndrome has an increased risk of increased ICP, hydrocephalus, optic atrophy, respiratory problems due to a deviated septum, and disorders of speech and hearing. Surgical intervention

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