Pediatric Hearing Pediatric Hearing LossLoss

UCLA Head & Neck SurgeryUCLA Head & Neck Surgery

Ontario Lau MDOntario Lau MD

EpidemiologyEpidemiology

• congenital SNHL 1-3 per 1000 per live congenital SNHL 1-3 per 1000 per live births births

• 10x greater for infants with 1 or more 10x greater for infants with 1 or more risk factor than those with no risk risk factor than those with no risk factors, ie 2% to 5%. factors, ie 2% to 5%.

• late-onset and acquired late-onset and acquired hearinghearing loss in loss in childhood 6x higher than the incidence childhood 6x higher than the incidence of hearing loss in the neonatal period of hearing loss in the neonatal period

1% all children have HL1% all children have HL

EvaluationEvaluation• History: History:

– intrauterine infections (most commmon prenatal cause) intrauterine infections (most commmon prenatal cause) – perinatal infection, maternal drug abuse, low Apgar perinatal infection, maternal drug abuse, low Apgar

score (most common perinatal causes)score (most common perinatal causes)– Prematurity, NICU stay, bilirubinemia,family history.Prematurity, NICU stay, bilirubinemia,family history.– Meningitis Meningitis (most commmon postnatal cause) (most commmon postnatal cause)

• Physical: Physical: microscopic exam; auricle, periauricular pits, microscopic exam; auricle, periauricular pits, craniofacial abnormalities, craniofacial abnormalities,

• +/- ocular, thyroid, skin, limb exams+/- ocular, thyroid, skin, limb exams look for look for syndromic causesyndromic cause

EvaluationEvaluation• OAE OAE • ABRABR

– TORCH, meningitis, family hx, craniofacial TORCH, meningitis, family hx, craniofacial abnormalities, birth weight <1.5kg, neonatal abnormalities, birth weight <1.5kg, neonatal hyperbilirubinemia, Apgar <4 at 1 minutes, <6 hyperbilirubinemia, Apgar <4 at 1 minutes, <6 at 5 minutes, prolonged NICU stay or ECMO or at 5 minutes, prolonged NICU stay or ECMO or mechanical vent, exposure to ototoxic meds.mechanical vent, exposure to ototoxic meds.

• Behavior observation audiometry (birth to 6 mos)Behavior observation audiometry (birth to 6 mos)• Visual Reinforcement Audiometry (6mos-3yrs)Visual Reinforcement Audiometry (6mos-3yrs)• Conventional play audiometry (3-6 yrs)Conventional play audiometry (3-6 yrs)• Standard Audiometry (6 yrs+)Standard Audiometry (6 yrs+)

Ancillary TestsAncillary Tests

Imaging: CT temporal bone: inner ear Imaging: CT temporal bone: inner ear disorders, cholesteatoma, & disorders, cholesteatoma, & osteodysplasias. osteodysplasias.

CBC, lipid profile, IgM assay for CBC, lipid profile, IgM assay for TORCH (Toxoplasmosis, TORCH (Toxoplasmosis, Other[syphilis], Rubella, Other[syphilis], Rubella, Cytomegalovirus, Herpes simplex)Cytomegalovirus, Herpes simplex)

Connexin-26 testConnexin-26 test

Other tests as indicated by ddx.Other tests as indicated by ddx.

Causes of HL Causes of HL

• 5-10% prenatal causes (TORCH, 5-10% prenatal causes (TORCH, teratogens)teratogens)

• 5-15% perinatal causes (hypoxemia etc)5-15% perinatal causes (hypoxemia etc)• 10-20% postnatal causes (meningitis 10-20% postnatal causes (meningitis

etc)etc)• 20-30% UNKNOWN 20-30% UNKNOWN • 30-50% genetic30-50% genetic

Acquired prenatal Acquired prenatal hearing losshearing lossCongenital Congenital

CytomegalovirusCytomegalovirus• most common infectious cause, >4000 annual most common infectious cause, >4000 annual casescases

• Incidence of infection: 1-2 cases/100 live birthIncidence of infection: 1-2 cases/100 live birth <5% develop multiorgan dx<5% develop multiorgan dx 50% of those develop 50% of those develop

HLHL 5-15% silently infected infants eventually develop HL5-15% silently infected infants eventually develop HL

• Oto SSx: B progressive high freq SNHLOto SSx: B progressive high freq SNHL• Other SSx: Cerebral calcification,Other SSx: Cerebral calcification,

microcephaly, mental retardation,microcephaly, mental retardation, hepatosplenomegaly, jaundice.hepatosplenomegaly, jaundice.

Acquired prenatal Acquired prenatal hearing losshearing lossCongenital Congenital

CytomegalovirusCytomegalovirus• Dx: serum anti-CMV IgM, CMV DNA from Dx: serum anti-CMV IgM, CMV DNA from body fluid,+ intranuclear inclusions (owl body fluid,+ intranuclear inclusions (owl eyes) in renal tubular cells in urinary eyes) in renal tubular cells in urinary sediment (1 to 2 weeks of life)sediment (1 to 2 weeks of life)

• Rx: Ganciclovir—little effect for HL since Rx: Ganciclovir—little effect for HL since damage happened already in uterodamage happened already in utero

Acquired prenatal Acquired prenatal hearing losshearing loss

Congenital SyphilisCongenital Syphilis• Pathophysio: transplacental transmission, 100% Pathophysio: transplacental transmission, 100%

inoculation rateinoculation rate• 40% perinatal death40% perinatal death• Oto SSx: frequent +Hennebert sign (aka +fistula Oto SSx: frequent +Hennebert sign (aka +fistula

sign)sign)– Early deafness birth to 3 yoEarly deafness birth to 3 yo– delayed 8-20 yo. delayed 8-20 yo.

• Other SSx: Hutchinson triad: abnormal central Other SSx: Hutchinson triad: abnormal central incisors (aka Hutchinson teeth), interstitial incisors (aka Hutchinson teeth), interstitial keratitis of the eye, bony abnormalitieskeratitis of the eye, bony abnormalities

• Dx: RPR,VDRL(sensitive);Dx: RPR,VDRL(sensitive); FTA-ABS(specific)FTA-ABS(specific)• Tx: PCNTx: PCN

Acquired prenatal Acquired prenatal hearing losshearing loss

Congenital RubellaCongenital Rubella• Rare since vaccination (0-3 per year now in USA)Rare since vaccination (0-3 per year now in USA)• Pathophysio: vasculitis resulting in tissue necrosis Pathophysio: vasculitis resulting in tissue necrosis • Oto SSx: B often asymmetric severe to profound Oto SSx: B often asymmetric severe to profound

SNHLSNHL• Other SSx: growth delay, learning disability, Other SSx: growth delay, learning disability,

congenital heart disease, and ocular, endocrinologic, congenital heart disease, and ocular, endocrinologic, and neurologic abnormalitiesand neurologic abnormalities. .

• Dx: urine/throat/amniotic fluid clx, antirubella IgMDx: urine/throat/amniotic fluid clx, antirubella IgM

Inner Ear Inner Ear DysmorphologiesDysmorphologies

• Time frame: membranous labyrinth Time frame: membranous labyrinth is interrupted during 1st trimester  is interrupted during 1st trimester 

• Etiologies: Genetic or teratogenic Etiologies: Genetic or teratogenic exposureexposure

• ClassificationsClassifications– membranous labyrinth ONLY (seen at autopsy)membranous labyrinth ONLY (seen at autopsy)– Osseous & membranous labyrinth ( seen in Osseous & membranous labyrinth ( seen in

CT)CT)

Inner Ear Inner Ear DysmorphologiesDysmorphologies

• Incidence: 20% congenital SNHL Incidence: 20% congenital SNHL will show abnormal inner ear on CT will show abnormal inner ear on CT temporal bonetemporal bone– Bony: Bony: Dilated Vestibular aqueductDilated Vestibular aqueduct

>cochlea>SCC (as reflected by modern >cochlea>SCC (as reflected by modern imaging technology)imaging technology)

Inner Ear Inner Ear DysmorphologiesDysmorphologies

membranous labyrinth membranous labyrinth ONLY ONLY • Complete membranous labyrinthine Complete membranous labyrinthine

dysplasia (dysplasia (Siebenmann-BingSiebenmann-Bing) ) • Limited membranous labyrinthine Limited membranous labyrinthine

dysplasia dysplasia – Scheibe dysplasia Scheibe dysplasia (cochleosaccular (cochleosaccular

dysplasia) MOST common membranous dysplasia) MOST common membranous labyrinthine dysplasia labyrinthine dysplasia

– Cochlear basal turn dysplasiaCochlear basal turn dysplasia

Bing-SiebenmannBing-Siebenmann

• Extremely rareExtremely rare• Associated with Jervell and Lange-Associated with Jervell and Lange-

Nielsen syndrome and Usher Nielsen syndrome and Usher syndrome.syndrome.

Scheibe dysplasiaScheibe dysplasiacochleosaccular dysplasiacochleosaccular dysplasia

• Pathophysio: incomplete development of Pathophysio: incomplete development of the pars inferiorthe pars inferior– Cochlea dysplasia: severa in the basal turn, Cochlea dysplasia: severa in the basal turn,

lessen toward apex, or severe throughoutlessen toward apex, or severe throughout– Saccule: collapsedSaccule: collapsed– Organ of Corti: partial or completely missingOrgan of Corti: partial or completely missing– SCCs & utricle: NORMALSCCs & utricle: NORMAL

• OtoSSx: SNHLOtoSSx: SNHL• Associated w/ Usher syndrome & Associated w/ Usher syndrome &

Waardenburg syndromeWaardenburg syndrome

2

.Cochleosaccular Dysplasia: A Morphometric and Histopathologic Study in a Series of Temporal Bones.Sampaio, Andre; Cureoglu, Sebahattin; Schachern, Patricia; Kusunoki, Takeshi; Paparella, Michael; Oliveira, Carlos

Otology & Neurotology. 25(4):530-535, July 2004.

FIG. 1. (A) In the apical turn of this right temporal bone from case 10, there is a large cystic area (arrow) in the stria that intersects in its apical portion with a hydropic Reissner's membrane (arrowhead). O, organ of Corti represented by supporting cells; T, deformed tectorial membrane; S, atrophic stria vascularis. (B) There are strial cysts (arrow) in the lower basal turn of this left temporal bone from case 2. (C) In the lower basal turn of this right temporal bone from case 8, there is a strial concretion (short arrow), a collapsed Reissner's membrane (arrowhead), and an amorphous substance (long arrow) within a rolled tectorial membrane.

Inner Ear DysmorphologiesInner Ear Dysmorphologies osseous & membranous labyrinth osseous & membranous labyrinth

• Complete labyrinthine Complete labyrinthine aplasia (aplasia (MichelMichel) 1%) 1%

• Cochlear anomaliesCochlear anomalies– Cochlear aplasia 3%Cochlear aplasia 3%– cochlear hypoplasia cochlear hypoplasia

15%15%– Incomplete partition Incomplete partition

((MondiniMondini) 55%) 55%–   Common cavity Common cavity 26%*26%*

*Jackler RK, Luxford WM, House WF: Congenital malformations of the inner ear: a classification based on embryogenesis, Laryngoscope Suppl 97:2, 1987

Michel: complete labyrinthine Michel: complete labyrinthine AplasiaAplasia

• Exceedingly rare.Exceedingly rare.• Associated w/ Associated w/

anencephaly & anencephaly & thalidomide thalidomide exposure.exposure.

• Overestimated Overestimated due to confusion due to confusion with acquired with acquired labyrinthine labyrinthine ossification.ossification.

Mondini: incomplete Mondini: incomplete partitionpartition

• Pathphysio: arrest at 7Pathphysio: arrest at 7thth week week gestationgestation 1.5 turn cochlea 1.5 turn cochlea

• Oto SSx: normal to profound SNHLOto SSx: normal to profound SNHL• Other SSx: Other SSx:

– 20% SCC deformities; 20% SCC deformities; – dilated cochlear aquaduct: dilated cochlear aquaduct:

perilymphatic gushers & meningitisperilymphatic gushers & meningitis

Mondini: incomplete Mondini: incomplete partitionpartition

• CT/MRI findings:CT/MRI findings:– smaller cochlea (5-6mm vs 8-10mm smaller cochlea (5-6mm vs 8-10mm

vertical dimension of normal cochlea)vertical dimension of normal cochlea)– absence of a scalar septumabsence of a scalar septum

Common CavityCommon Cavity

• Pathphysio: arrest at 4Pathphysio: arrest at 4thth week week otocyst stage or laterotocyst stage or later

• CT/MRI findings: CT/MRI findings: – Empty ovoid space (average 7mm Empty ovoid space (average 7mm

vertically, 10mm horizontally)vertically, 10mm horizontally)– Common cavity cochlear ANTERIOR to Common cavity cochlear ANTERIOR to

the IAC on axial CTthe IAC on axial CT

• Oto SSx: variable SNHL, usually Oto SSx: variable SNHL, usually poorpoor

2

Common Cavity

Implanting Common Cavity Malformations Using Intraoperative Fluoroscopy.Coelho, Daniel; Waltzman, Susan; Roland, J

Otology & Neurotology. 29(7):914-919, October 2008.DOI: 10.1097/MAO.0b013e3181845827

FIG. 2 . A transorbital plain x-ray intraoperative view. Note that the array has passed into the IAC. The arrow denotes the junction between the common cavity and the IAC as seen in this orientation. Inset outlines the lumen of the common cavity (cc) and the IAC. Reprinted with permission from Fishman AJ, Roland JT Jr, Alexiades G, Mierzwinski J, Cohen NL. Fluoroscopically assisted cochlear implantation. Otol Neurotol 2003;24:882-6.

Inner Ear DysmorphologiesInner Ear Dysmorphologies osseous & membranous labyrinth osseous & membranous labyrinth

• Labyrinthine anomaliesLabyrinthine anomalies  – Semicircular canal Semicircular canal

dysplasiadysplasia–   Semicircular canal aplasiaSemicircular canal aplasia

• Aqueductal anomaliesAqueductal anomalies  – Enlargement of the Enlargement of the

vestibular aqueductvestibular aqueduct– Enlargement of the Enlargement of the

cochlear aqueductcochlear aqueduct

•   Internal auditory canal Internal auditory canal anomaliesanomalies  – Narrow IACNarrow IAC–   Wide IACWide IAC

*Jackler RK, Luxford WM, House WF: Congenital malformations of the inner ear: a classification based on embryogenesis, Laryngoscope Suppl 97:2, 1987

Semicircular Canal Semicircular Canal Dysplasia Dysplasia • 40% malformed 40% malformed

cochlea a/w cochlea a/w dysplasia of lateral dysplasia of lateral SCCSCC– Lateral>>post/Lateral>>post/

superior superior

• Pathphysio: arrest Pathphysio: arrest at 6at 6thth week week

• CT/MRI findings : CT/MRI findings : short, broad cystic short, broad cystic space confluent space confluent with the vestibule with the vestibule

Enlargement of the Vestibular Enlargement of the Vestibular Aqueduct Aqueduct

• Epid: Epid: most common radiographically most common radiographically detectable malformation of the inner ear detectable malformation of the inner ear

• Pathphysio: Acquired abnormal Pathphysio: Acquired abnormal communication between the subarachnoid communication between the subarachnoid space and the fluid chambers of the inner earspace and the fluid chambers of the inner ear

• Oto SSx:Oto SSx:– born w/ normal or mildly impaired hearing that born w/ normal or mildly impaired hearing that

gradually worsens;gradually worsens;– hearing variable, 40% profound SNHLhearing variable, 40% profound SNHL– CHL possible: AVOID STAPEDECTOMY! (a/w CHL possible: AVOID STAPEDECTOMY! (a/w

perilymphatic gusher)perilymphatic gusher)

Enlargement of the Vestibular Enlargement of the Vestibular Aqueduct Aqueduct

• CT/MRI findings : CT/MRI findings : – CT: VA> 2mm (normal 0.4-1mm)CT: VA> 2mm (normal 0.4-1mm)– a/w cochlea or SCC malformationa/w cochlea or SCC malformation– MRI: Dilated endolymphatic sac, MRI: Dilated endolymphatic sac,

sometimes >2cmsometimes >2cm– Usually bilateralUsually bilateral

• RX: CI, avoid endolymphatic RX: CI, avoid endolymphatic surgery/stapedectomysurgery/stapedectomy

Wide Internal Auditory Wide Internal Auditory Canal Canal

• Usually incidental finding in normal Usually incidental finding in normal hearing subjectshearing subjects

• CT/MRI findings : IAC>10mmCT/MRI findings : IAC>10mm• a/w spontaenous CSF otorrhea & a/w spontaenous CSF otorrhea &

gusher during stapes surgerygusher during stapes surgery obtain CT for congenital CHL! obtain CT for congenital CHL!

Narrow Internal Auditory Narrow Internal Auditory Canal Canal

• Pathphysio : agenesis of CN VIIIPathphysio : agenesis of CN VIII• CT/MRI findings : IAC<3 mm, bony CT/MRI findings : IAC<3 mm, bony

canal only transmits CN VIIcanal only transmits CN VII• Relative contraindication to CIRelative contraindication to CI

GENETIC HLGENETIC HL

• >50% non-syndromic>50% non-syndromic– 75% to 80% 75% to 80%

autosomal autosomal recessiverecessive

– 15% to 20% 15% to 20% autosomal autosomal dominantdominant

– 1% to 2% is X-1% to 2% is X-linked. linked.

– <<1% <<1% mitochondrial mitochondrial inheritanceinheritance

Autosomal Recessive Autosomal Recessive DisordersDisorders

Usher syndromeUsher syndrome• Most common cause of congenital Most common cause of congenital

deafnessdeafness• 50% deaf-blind in USA50% deaf-blind in USA• Pathophy: unknown, could also be Pathophy: unknown, could also be

autosomal dominant, X-linkedautosomal dominant, X-linked• SSx:Variable SNHL, progressive retinitis SSx:Variable SNHL, progressive retinitis

pigmentosapigmentosa• Dx: ElectroretinographyDx: Electroretinography

Usher syndromeUsher syndromesubtypessubtypes

• I: profound congenital SNHL, No I: profound congenital SNHL, No vestibular response Blind by childhood, vestibular response Blind by childhood, most commonmost common

• II: moderate to severe SNHL, normal II: moderate to severe SNHL, normal vestibular response, blind by early vestibular response, blind by early adulthoodadulthood

• III: progressive SNHL, progressive III: progressive SNHL, progressive vestibular dysfunction, varied progression vestibular dysfunction, varied progression in blindnessin blindness

Autosomal Recessive Autosomal Recessive DisordersDisorders

Pendred syndromePendred syndrome• Pathophy: Defect in tyrosine iodination Pathophy: Defect in tyrosine iodination

from pendrin (chloride/iodide transporter)from pendrin (chloride/iodide transporter)• OtoSSx: severe to profound SNHL, a/w OtoSSx: severe to profound SNHL, a/w

Mondini deformity, dilated vestibular Mondini deformity, dilated vestibular aqueducts.aqueducts.

• Other SSx: multinodular goiter in 8-14 yoOther SSx: multinodular goiter in 8-14 yo• Dx: + perchlorate test Dx: + perchlorate test • Rx: Thyroid supplementRx: Thyroid supplement

Autosomal Recessive DisordersAutosomal Recessive DisordersJervell and Lange-Nielsen Jervell and Lange-Nielsen

SyndromeSyndrome• Pathophy: mutation in potassium channelPathophy: mutation in potassium channel• OtoSSx: B severe to profound SNHLOtoSSx: B severe to profound SNHL• Other SSx: cardiac abnormalities, Other SSx: cardiac abnormalities,

recurrent syncope, sudden deathrecurrent syncope, sudden death• Dx: EKG ( prolonged QT, large T-wave)Dx: EKG ( prolonged QT, large T-wave)• Rx: beta-blocker, HARx: beta-blocker, HA

Autosomal Recessive DisordersAutosomal Recessive DisordersGoldenhar SyndromeGoldenhar Syndrome

• aka Hemifacial Microsomia/ aka Hemifacial Microsomia/ Oculoauriculovertebral spectrumOculoauriculovertebral spectrum

• Pathophy: uncertain, malformation of 1Pathophy: uncertain, malformation of 1stst and 2and 2ndnd arch derivatives arch derivatives

• OtoSSx: OtoSSx: – microtia/EAC atresia, ossicular microtia/EAC atresia, ossicular

malformationmalformationCHLCHL– abnormal CN VII, SCC, oval windowabnormal CN VII, SCC, oval windowSNHLSNHL

Autosomal Recessive DisordersAutosomal Recessive DisordersGoldenhar SyndromeGoldenhar Syndrome

• Other SSx: Other SSx: – Ocular: epibulbar dermoids, colobomas of upper Ocular: epibulbar dermoids, colobomas of upper

eyelidseyelids– Vertebral: fusion or absence of cervical vertebraeVertebral: fusion or absence of cervical vertebrae– Facial asymmetryFacial asymmetry– Mild mental retardationMild mental retardation

• Dx: PEDx: PE

Autosomal Dominant DisordersAutosomal Dominant DisordersWaardenberg SyndromeWaardenberg Syndrome

• Pathophy: abnormal tyrosine metabolismPathophy: abnormal tyrosine metabolism• OtoSSx: U/B SNHL, +/- vestibular dysfunctionOtoSSx: U/B SNHL, +/- vestibular dysfunction• Other SSx: Other SSx:

– Pigmentary abnormalities Pigmentary abnormalities (heterchromic iriditis, (heterchromic iriditis,

white forelock, white forelock, patch skin depigmentationpatch skin depigmentation

– Dystopia canthorumDystopia canthorum– SynophrysSynophrys– Flat nasal root, Flat nasal root, – Hypoplastic alaeHypoplastic alae

Autosomal Dominant DisordersAutosomal Dominant DisordersWaardenberg SyndromeWaardenberg Syndrome

• SubtypesSubtypes• I: + telecanthus, 36-66.7% SNHLI: + telecanthus, 36-66.7% SNHL• II: -telecanthus, 57-85% SNHLII: -telecanthus, 57-85% SNHL• III: type 1 + hypoplasia or contracture of the III: type 1 + hypoplasia or contracture of the

upper limbsupper limbs. (=Klein-Waardenburg . (=Klein-Waardenburg syndrome)syndrome)

• IV: WS + Hirschsprung disease IV: WS + Hirschsprung disease ((Waardenburg-Shah syndrome)Waardenburg-Shah syndrome) autosomal recessiveautosomal recessive

• Dx: clinical H&P, family HxDx: clinical H&P, family Hx

Autosomal Dominant DisordersAutosomal Dominant DisordersStickler SyndromeStickler Syndrome

• =Progressive Arthro-Ophthalmpathy=Progressive Arthro-Ophthalmpathy• Pathophy: mutation in type II and type XI Pathophy: mutation in type II and type XI

collagen, variable phenotype; 1:10,000collagen, variable phenotype; 1:10,000• OtoSSx: progressive SNHL, MHL ( from ETD of OtoSSx: progressive SNHL, MHL ( from ETD of

clefting)clefting)• Other SSx: Other SSx:

– myopia, myopia, retinal detachmentretinal detachment– Marfanoid habitusMarfanoid habitus– joint hypermobilitiesjoint hypermobilities– Midline cleftingMidline clefting

• Dx: clinical H&P, family HxDx: clinical H&P, family Hx

Autosomal Dominant DisordersAutosomal Dominant Disorders Branchio-Oto-Renal Syndrome Branchio-Oto-Renal Syndrome

• =Melnick Fraser Syndrome, 1 in 40,000 newborns=Melnick Fraser Syndrome, 1 in 40,000 newborns• Pathophy: branchial arches, otic & renal abnormal Pathophy: branchial arches, otic & renal abnormal

developmentdevelopment• OtoSSx: OtoSSx:

– preauricular ear pits/tags, microtia, EAC stenosis; preauricular ear pits/tags, microtia, EAC stenosis; middle/inner ear anomalitesmiddle/inner ear anomalites

– 50% MHL, 30% CHL, 20% SNHL50% MHL, 30% CHL, 20% SNHL

• Other SSx: varied renal abnormalities (agenesis to Other SSx: varied renal abnormalities (agenesis to mild dysplasia) mild dysplasia)

• Dx: Renal US or pyelography; renal abnormalities Dx: Renal US or pyelography; renal abnormalities frequently asymptomatic frequently asymptomatic

Autosomal Dominant DisordersAutosomal Dominant DisordersTreacher Collins SyndromeTreacher Collins Syndrome

• =Mandibulofacial dysostosis=Mandibulofacial dysostosis• Pathophy: uncertain.Pathophy: uncertain.

• OtoSSx: microtia/EAC atresia, preauricular fistulas, OtoSSx: microtia/EAC atresia, preauricular fistulas, malformed ossiclemalformed ossicle CHL, widened aqueduct, aberrant CHL, widened aqueduct, aberrant CN VIICN VII

• Other SSx: mandibular hypoplasia-fishmouth; Other SSx: mandibular hypoplasia-fishmouth; downward slanting palpebral fissures, coloboma of downward slanting palpebral fissures, coloboma of lower eyelids, palate defects. lower eyelids, palate defects. Choanal atresiaChoanal atresia

• Dx: clinical H&P, family HxDx: clinical H&P, family Hx• Rx: BAHA, possible atresia repairRx: BAHA, possible atresia repair

Autosomal Dominant DisordersAutosomal Dominant DisordersNeurofibromatosis INeurofibromatosis I

• =Von Recklinghausen disease=Von Recklinghausen disease• Pathophy: NF 1 in chromosome 17Pathophy: NF 1 in chromosome 17• OtoSSx: retrocochlear HL OtoSSx: retrocochlear HL • NF 1 (2/7 characters)NF 1 (2/7 characters)

– >6 café-au-lait spots>6 café-au-lait spots– 2 or more neurofibromas or 1 plexiform neurofibroma2 or more neurofibromas or 1 plexiform neurofibroma– Axillary or groin frecklingAxillary or groin freckling– Optic nerve gliomaOptic nerve glioma– Lisch nodules (eye hamartomas)Lisch nodules (eye hamartomas)– Bony lesionsBony lesions– +family Hx+family Hx

• 5% risk of U vestibular schwannoma5% risk of U vestibular schwannoma

Autosomal Dominant DisordersAutosomal Dominant DisordersNeurofibromatosis 2Neurofibromatosis 2

• Pathophy: mutation in Merlin ( tumor suppressor gene) in Pathophy: mutation in Merlin ( tumor suppressor gene) in chromosome 22chromosome 22

• OtoSSx: retrocochlear HL OtoSSx: retrocochlear HL • NF 2 NF 2

– B vestibular schwannoma by 2B vestibular schwannoma by 2ndnd decade of life decade of life– Family h/o NFII in a 1Family h/o NFII in a 1stst degree relative PLUS degree relative PLUS – A) unilateral vestibular schwannoma at <30 yoA) unilateral vestibular schwannoma at <30 yo– B) 2 neurofibroma + other intracranial & spinal cord B) 2 neurofibroma + other intracranial & spinal cord

tumors (gliomas/schwannomas/meningiomas)tumors (gliomas/schwannomas/meningiomas)

Autosomal Dominant DisordersAutosomal Dominant DisordersApert SyndromeApert Syndrome

• =Acrocephalosyndactyly=Acrocephalosyndactyly• Pathophy: autosomal dominant or sporadicPathophy: autosomal dominant or sporadic• OtoSSx: Stapes fixationOtoSSx: Stapes fixation CHL, patent cochlear CHL, patent cochlear

aqueduct, large subarcuate fossaaqueduct, large subarcuate fossa• Other SSx: Other SSx:

– lobster claw handslobster claw hands– midface abnormalites (hypertelorism, proptosis, midface abnormalites (hypertelorism, proptosis,

saddle nose, high-arched palate) saddle nose, high-arched palate)– craniofacial dysostosiscraniofacial dysostosis– trapezoid mouthtrapezoid mouth

Autosomal Dominant DisordersAutosomal Dominant DisordersCrouzon SyndromeCrouzon Syndrome

• = Craniofacial dysostosis , Pathophy: unknown= Craniofacial dysostosis , Pathophy: unknown• OtoSSx: microtia/EAC atresia, malformed OtoSSx: microtia/EAC atresia, malformed

ossicleossicle CHL, CHL, • Other SSx: midface abnormalites (hypertelorism, Other SSx: midface abnormalites (hypertelorism,

small maxilla, exophthalmos, parrot nose, short small maxilla, exophthalmos, parrot nose, short upper lip, craniofacial dysostosis, mandibular upper lip, craniofacial dysostosis, mandibular prognathismprognathism

Sex-linked DisordersSex-linked DisordersAlport DiseaseAlport Disease

• Pathophy: 80% X-linked or autosomal Pathophy: 80% X-linked or autosomal dominant/recessive. Abnormal Type IV collagen dominant/recessive. Abnormal Type IV collagen formation in glomerular basement formation in glomerular basement renal failurerenal failure

• OtoSSx: B degeneration of organ of Corti and OtoSSx: B degeneration of organ of Corti and striastria slowly progressive SNHL slowly progressive SNHL

• Other SSx: hematuria, progressive nephritis, Other SSx: hematuria, progressive nephritis, macular/corneal lesionsmacular/corneal lesions

• Dx: skin or renal bx w/ electron microscopy, UADx: skin or renal bx w/ electron microscopy, UA• Rx: HD, renal transplant.Rx: HD, renal transplant.