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Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
Hereditary Hearing Loss
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Hereditary Hearing Loss

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  • 1. UCI Otolaryngology Head and Neck Surgery <ul><li>Thursday Morning Conference </li></ul><ul><li>November 10, 2005 </li></ul><ul><li>Paul K. Holden, MD </li></ul>
  • 2. Patient Conference <ul><li>3 yo male presents to clinic as new patient referred by audiologist for hearing loss. </li></ul>
  • 3. Patient Conference <ul><li>Mother has noted pt does not seem to respond to normal voice, watches TV loudly and does not speak except for the words “agua” and “mama” </li></ul><ul><li>No h/o trauma, illness, hospitalization </li></ul><ul><li>No medications </li></ul><ul><li>Normal delivery (40 weeks) no events, mother unaware of hearing test at time of birth. </li></ul>
  • 4. Patient Conference <ul><li>FH – Father has some hearing loss of unknown type, some uncles/cousins with hearing loss. Two siblings both with normal hearing, one older sister has DD and wears glasses. </li></ul><ul><li>Soc Hx – All other family members born in Mexico, pt born in US. Lives w/ 2 sisters and both parents in apartment. </li></ul>
  • 5. Frequency (kHz) -20 -10 0 10 20 30 40 50 60 70 80 90 100 110 120 Pure tone threshold (dB) 0.25 0.5 1 2 4 S S S S S
  • 6. Patient Conference <ul><li>PEx </li></ul><ul><ul><ul><ul><li>WDWN, nonverbal, not following commands </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Brow Hirsuitism, normocephalic </li></ul></ul></ul></ul><ul><ul><ul><ul><li>PERRL, EOM grossly intact, broad nasal root with increased intercanthal distance, very pale blue eyes </li></ul></ul></ul></ul><ul><ul><ul><ul><li>TM c/i/m AU </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Nose clear, MMM </li></ul></ul></ul></ul><ul><ul><ul><ul><li>OC clear, MMM, 1+ tonsils </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Neck supple, no LAD, trach ML, no thyromegaly </li></ul></ul></ul></ul>
  • 7. Patient Conference WAARDENBURG SYNDROME
  • 8. Hereditary Hearing Loss
  • 9. Hereditary Hearing Loss <ul><li>DEFINITION – HL present at birth or develops any time thereafter and is believed to have a genetic cause. </li></ul>
  • 10. Hereditary Hearing Loss <ul><li>WHAT IT AIN’T </li></ul><ul><ul><li>“ Congenital” which is a general term for HL present at birth </li></ul></ul><ul><ul><li>Acquired Prenatal Hearing Loss (Syphilis, Rubella, CMV, Toxic Exposure) </li></ul></ul><ul><ul><li>Other HL (congenital cholesteatoma, otosclerosis, sudden SNHL) </li></ul></ul>
  • 11. Hereditary Hearing Loss <ul><li>Workup: </li></ul><ul><ul><li>Hx incl CV, Neuro, Rheum, Endo, Renal, Ophtho, past ototoxic exp, infxns, vertigo, </li></ul></ul><ul><ul><li>Px – Abnormal Facies, infxn, cholesteatoma </li></ul></ul><ul><ul><li>Surg/Trauma Hx </li></ul></ul><ul><ul><li>Meds </li></ul></ul><ul><ul><li>FHx incl CV, Neuro, Rheum, Endo, Renal, Ophtho. Pedigree if genetic dz suspected. </li></ul></ul>
  • 12. Hereditary Hearing Loss <ul><li>Workup: </li></ul><ul><ul><li>Audio / ABR, SRT, Tympanometry, OAE, repeat audio q3-6mo </li></ul></ul><ul><ul><li>ENG when asymmetric SNHL of unk etiol </li></ul></ul><ul><ul><li>Labs – Treponemal, Thyroid Panel, UA </li></ul></ul><ul><ul><li>EKG </li></ul></ul><ul><ul><li>T-Bone CT (non-con) </li></ul></ul><ul><ul><li>Ophtho Eval if Visual Hx or FHx </li></ul></ul>
  • 13. Hereditary Hearing Loss <ul><li>Classification </li></ul><ul><ul><li>Associated Anomalies </li></ul></ul><ul><ul><ul><li>Syndromic </li></ul></ul></ul><ul><ul><ul><li>Non-Syndromic </li></ul></ul></ul><ul><ul><li>Developmental Onset </li></ul></ul><ul><ul><ul><li>Prelingual </li></ul></ul></ul><ul><ul><ul><li>Postlingual </li></ul></ul></ul>
  • 14. Hereditary Hearing Loss <ul><li>Genetic Classification </li></ul><ul><ul><li>Autosomal Dominant </li></ul></ul><ul><ul><li>Autosomal Recessive </li></ul></ul><ul><ul><li>X-Linked </li></ul></ul><ul><ul><li>Mitochondrial </li></ul></ul>
  • 15. Hereditary Hearing Loss <ul><li>AD Syndromic </li></ul><ul><ul><li>Branchio-Oto-Renal – Outer/Middle/Inner Ear Anomalies (preauricular pits common, microtia, etc), Lateral cervical sinus/cyst/cleft, Renal agenesis/dysplasia, HL (90%) is SN/C or Mixed prelingual </li></ul></ul><ul><ul><li>NF-II – Bilat Schwannomas, meningiomas, gliomas, cataracts/lenticular opacities, HL is retrocochlear and usually postlingual - MERLIN gene </li></ul></ul><ul><ul><li>Stickler – congenital vitreous anomaly AND any 3 of: myopia before age 6, retinal detachment/lattice degen, joint hypermobility, SNHL, midline cleft (may be sumucous). May have Robin Seq, HL may be mixed pre/post lingual, 50% blind by adolescence, marfanoid habitus </li></ul></ul>
  • 16. Hereditary Hearing Loss <ul><li>AD Syndromic (cont’d) </li></ul><ul><ul><li>Waardenburg – Four types: Type I = SNHL, White Forelock, heterochromia/hopoplastic blue eyes, dystopia canthorum. Can also have synophrys, broad nasal root, alar hypoplasia. Type 2 = no dystopia canthorum. Type 3 = Type 1 + upper limb contracture. Type 4 = incld Hirschprung. For all types, HL is prelingual. </li></ul></ul><ul><ul><li>Treacher Collins – 1 st branchial arch abnormalities of midface hypoplasia, micrognathia, macrostomia, colobomas of lower lids, downward palpebral fissures, Cleft Palate, CHL (EE/ME anomalies). </li></ul></ul><ul><ul><li>Crouzon – craniosynostosis, hypertelorism, midface hypoplasia, exophthalmos. 1/3 CHL due to EE/ME anomalies. </li></ul></ul>
  • 17. Hereditary Hearing Loss <ul><li>AR Syndromic </li></ul><ul><ul><li>Jervell Lange-Nielsen – Profound prelingual SNHL, syncope, sudden death (prolonged QT). Syncope w/ exertion or emotion. High mortality rate sig reduced w/ Dx and Tx. </li></ul></ul><ul><ul><li>Pendred – Prelingual (usu profound) SNHL and Goiter. T-bone abnormalities (Mondini, DVA). Goiter may develop later in childhood but usually euthyroid. </li></ul></ul><ul><ul><li>Usher – Most common AR syndromic HL, has prelingual SNHL plus retinitis pigmentosa. ½ of all Deaf-Blinds in US. 3 Types: USH1 – includes vestibular areflexia (no caloric response) and profound HL, USH2 – nl vestibular fct and use HA, USH3 – progressive HL and vestibular probs. In all 3, RP is progressive, starting w/ nyctaltopia (night blindness). Electroretinography (ERG) for early RP dx. </li></ul></ul>
  • 18. Hereditary Hearing Loss <ul><li>X-Linked Syndromic </li></ul><ul><ul><li>Alport – SNHL (hi freq), progressive glomerulonephritis, anterior lenticonus, white macular flecks (or both). Screen hematuria/proteinuria (multiple specimens) usually found age 3-4 yrs, esp after URI. </li></ul></ul>
  • 19. Hereditary Hearing Loss <ul><li>Michondrial Syndromic </li></ul><ul><ul><li>Kearns-Sayre – Eye, CV, Ataxic, Mixed HL </li></ul></ul><ul><ul><li>Maternal Diabetes+Deafness – SNHL </li></ul></ul><ul><ul><li>MELAS - (Mito encephalopathy, Lactic Acidosis, Stroke-Like Episodes) 30% HL </li></ul></ul><ul><ul><li>MERRF – (Myoclonic Epilepsy and Ragged Red Fibers) incl ataxia, dementia, optic atrophy and variable SNHL . </li></ul></ul>
  • 20. Hereditary Hearing Loss <ul><li>NonSyndromic </li></ul><ul><ul><li>AD – 18% of nonsyndromic HL, postlingual, progressive and milder. >70 loci. </li></ul></ul><ul><ul><li>AR – 88% of nonsyndromic HL, more severe, prelingual, DFNb-1 C onnexin </li></ul></ul><ul><ul><li>X-linked – <2%, can have dev delay, stapes fixation, dilation of vestibule (risk if perilymph gusher) </li></ul></ul><ul><ul><li>Mitochondrial – elevated sensitivity to aminoglycosides. </li></ul></ul>
  • 21. Hereditary Hearing Loss <ul><li>Treatment </li></ul><ul><ul><li>Consults – Geneticist, Ophtho, Renal, Endocrine, Cardiology, Neuro, Craniofacial </li></ul></ul><ul><ul><li>Hearing - HAs, Reconstruction/Prostheses, BAHA, CI </li></ul></ul><ul><ul><li>Avoid loud noises, noisy environments </li></ul></ul><ul><ul><li>Regular Audio F/U </li></ul></ul>
  • 22. Hereditary Hearing Loss Pendred Syndrome
  • 23. Hereditary Hearing Loss Treacher Collins Syndrome
  • 24. Hereditary Hearing Loss Branchio-Oto-Renal Syndrome
  • 25. Hereditary Hearing Loss Crouzon Syndrome
  • 26. Patient Conference Waardenburg Syndrome
  • 27. Hereditary Hearing Loss
  • 28. Hereditary Hearing Loss Stickler Syndrome
  • 29. THANK YOU!

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