Transcript Congenital Hearing Loss - UCLA Head and Neck Surgery
Congenital Hearing Loss
Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009
Etiology
Congenital HL 50% Genetic 50% Acquired Childhood Onset HL 50% Genetic 25% Acquired 25% Unknown
Genetic HL
75% non-syndromal 25% syndromal 75% autosomal recessive (AR) 25% autosomal dominant (AD) 1-2% X-linked Rare mitochondrial
Autosomal recessive HL
Monogenic, 25% risk to offspring if both parents are carriers Severe to profound SNHL, prelingual onset
Autosomal recessive syndromal HL
Usher syndrome Pendred Jervel and Lange Nielsen Goldenhar (Oculoauriculoverterbral spectrum)
Usher Syndrome
Retinitis pimentosa and SNHL Night blindness > field cut > central blindness Most common cause of congenital deafness Dx: electroretinography
Usher Types
Type I (most common): Profound SNHL, no vestibular fxn RP onset in early childhood Atypical myosin (myosin 7A): interferes with mechanoelectrical transduction in labyrinthine hair cells Type II: Congenital sloping SNHL Normal vestibular fxn RP onset in teens
Usher Types
Type III: Progressive SNHL and vestibular dysfunction Vestibulocerebellar ataxia Type IV: Mental retardation and hypotonia
Usher
Pendred Syndrome
Defect in tyrosine iodination Gene mutation: affects pendrin, molecule involved in chloride-iodine transport Sx: severe to profound SNHL, multinodular goiter in childhood Assoc with Mondini malformation and enlarged vestibular aqueduct Dx: (+) perchlorate test Tx: thyroid hormone to suppress goiter
Transverse CT scans of the middle ear in a 47 year-old patient with Pendred syndrome. (a) Modiolus is not discernible (short arrow). Vestibular aqueduct (arrowheads) and vestibule (long arrow) are enlarged. (b) Interscalar septum between upper and middle turn of the cochlea is absent (arrow).
Jervell and Lange Nielsen
Congenital profound SNHL Prolonged QT interval with syncope, sudden death Gene mutation: KVKQT1 = abnormal K+ channel Dx: EKG Tx: Beta blockers, hearing aids
Goldenhar Syndrome
First and second arch derivatives, hemifacial CHL and SNHL (mixed) Ocular: epibulbar dermoids, colobomas Auricular: preauricular appendages, pinna abnormalities, EAC atresia, ossicular malformation/absence, abnormal facial nerve, stapedius, semicircular canals and oval window Vertebral: fusion/absence of cervical vertebrae
Goldenhar Syndrome
Autosomal Dominant
Vertical pattern of inheritance Risk to offspring of 50% if 1 parent affected Variable penetrance and expressivity Often postlingual hearing loss, progressive
AD Syndromes
Waardenburg Treacher Collins Apert Crouzon Stickler Neurofibromatosis Brancio-oto-renal
Waardenburg Syndrome
Abnormal tyrosine metabolism Pigment abnormalities: heterochromic iriditis, white forelock, patchy skin depigmentation Craniofacial abnormalities: dystopia canthorum, synophrys, flat nasal root
Waardenburg Types
Type I: Dystopia canthorum, pigment and craniofacial abnormalities, 20% with SNHL Mutation in PAX3 gene Type II: No dystopia canthorum, 50% with SNHL but not as severe MITF mutation
Waardenburg Types
Type III (most severe): Unilateral ptosis and skeletal abnormalities PAX3 mutation Type IV: Type II plus Hirschsprung’s disease (aganglionic megacolon)
Treacher Collins (Mandibulofacial dysostosis)
Hypoplasia of mandible and facial bones Downsloping palpebral fissures, colobomas Atretic external and middle ear Mixed HL Cleft palate (35%) Gene mutation on chr 5q: TCOF1 codes for a cell transport protein (treacle) Tx: BAHA, bone conduction HA, surgical correction of aural atresia
Treacher Collins
Apert Syndrome (Acrocephalosyndactyly)
Middle and inner ear affected Stapes fixation (CHL), patent cochlear aqueduct, large subarcuate fossa Hand syndactyly, midface abnormalities, craniofacial dysostosis, trapezoid mouth
Apert
Crouzon Syndrome (craniofacial dysostosis)
Atresia and stenosis of EAC, CHL, ossicular deformities Cranial synostosis, small maxilla, exophthalmos, parrot nose, short upper lip, mandibular prognathism, hypertelorism Abnormal FGF receptors
Crouzon
Stickler Syndrome
Progressive Arthro-Ophthalmopathy Progressive SNHL (80%) Marfanoid body habitus Severe myopia, retinal detachment Flat midface Hypermobile joints Pierre Robin sequence: micrognathia, glossoptosis, cleft palate
Neurofibromatosis
NF-1 (Von Recklinghausen Disease) Café au lait spots, neurofibromas, Lisch nodules, 5% risk of unilateral acoustic neuroma NF-1 gene on Chr 17 NF-2 (central neurofibromatosis) Bilateral acoustic neuromas or unilateral with 1st degree relative with NF-2 or multiple central schwannomas NF-2 gene Chr 22q12 (tumor suppressor gene mutation)
NF-1
Branchio-oto-renal (Melnick Fraser Syndrome)
Renal abnormalities: mild hypoplasia to bilateral aplasia Branchial cleft cyts Preauricular pits EYA1 on Chr 8q13 Hearing loss: Penetrance: 80% Mixed: 50% Conductive: 30% SNHL: 20%
X-linked Disorders
Alport’s syndrome Otopalatal-digital Norrie syndrome
Alport’s Syndrome
X-linked 80%, autosomal dominant 20% Progressive glomerulonephritis and SNHL Abnormal type IV collagen in GBM; gene COL4A5
Alport’s Syndrome
Bilateral degeneration of organ of Corti and stria vascularis Ocular disorders (myopia, cataracts) Dx: UA, BUN, Cr Tx: dialysis, renal transplant
Otopalatal-digital
Ossicular malformation (CHL) Palate defects Digital abnormalities: broad fingers and toes Hypertelorism, short stature, mental retardation
Otopalatal digital
Norrie Syndrome
Blindness Progressive mental retardation Hearing loss
Mitochondrial Disorders
Follows maternal line Postlingual HL Associated with systemic metabolic disorders Increased sensitivity to aminoglycoside ototoxicity Ex: MELAS: mitochondrial encephalopath, lactic acidosis, and strokelike syndrome MIDD: maternally inherited diabetes and deafness
Acquired Congenital HL
Prenatal: infections, teratogens Perinatal: NICU admission Postnatal: infections, neoplasms
Prenatal Infections
TORCHS: Toxoplasmosis Rubella CMV HSV encephalitis Syphilis
Rubella
Cataracts, cardiac defects, HL Atrophy of Organ of Corti, thrombosis of stria vascularis, loss of hair cells, endolymphatic hydrops Anemia, metal retardation, LE deformities, microcephaly, thrombocytopenia Dx: culture virus from urine, throat or amniotic fluid; antirubella IgM
CMV
1-2% of live births Only 10% have HL Hemolytic anemia, microcephaly, mental retardation, HSM, jaundice, cerebral calcifications Dx: serum anti-CMV IgM, intranuclear inclusions “owl eyes” in renal tubular cells on UA
Syphilis
Treponema pallidum crosses placenta Often fatal Hutchinson’s Triad: abnormal central incisors, interstitial keratitis, profound SNHL Dx: VDRL, FTA-ABS, audiogram Tx: long term PCN, ampicillin, tetracycline or erythromycin; steroids for HL
Prenatal Teratogens
EtOH Thalidomide Radiation Aminoglycosides
Perinatal Causes of HL
Hypoxia Kernicterus Persistent fetal circulation
Postnatal Causes of HL
Meningitis (suppurative labryrinthitis) Ossification of labryinth Steroids help prevent HL Most common postnatal cause of HL Viral infection: mumps Ototoxins/Chemotherapy Trauma (acoustic, blunt, penetrating) Perilymph fistula Neoplasm: medulloblastoma, AN, fibrous dysplasia, histiocytosis) Autoimmune (rare in children)
Inner Ear Dysmorphologies
Michel’s aplasia Mondini aplasia Scheibe aplasia Alexander aplasia Bing Siebenmann Enlarged vestibular aqueduct Absence of CN VIII
Michel’s aplasia
AD or thalidomide exposure Complete aplasia of inner ear Anacusis, normal middle and outer ear Dx: CT shows hypoplastic petrous pyramid, absent cochlea and labyrinth
Mondini Aplasia
AD Most common cochlear abnormality risk of perilymphatic gusher and meningitis from dilated cochlear aqueduct Progressive or fluctuating HL Dx: CT reveals single turned cochlea, no interscalar septum Tx: HA, cochlear implant
Schiebe Aplasia
AR Partial or complete aplasia of pars inferior (cochlea and saccule), normal pars superior (SCC and utricle) Defect of membranous labyrinth only, therefore can not diagnose on CT
Alexander Aplasia
AR Abnormal cochlear duct/ basal turn High frequency SNHL Cannot diagnose on CT
Enlarged vestibular aqueduct
Defined by diameter of duct >2mm at midpoint Progressive cochleovestibular loss No treatment
Thanks for listening!
Questions
What % of patients with NF-1 have acoustic neuromas?
a) 5% b) 20% c) 50% d) 95%
What % of patients with NF-2 have acoustic neuromas?
a) 5% b) 20% c) 50% d) 95%
What is the basic defect that causes Alport syndrome?
a) abnormal renal tubules b) abnormal collagen IV in glomerulus c) abnormal collagen I in glomerulus d) abnormal renal arteries
What is the primary inheritance pattern for Alport’s syndrome?
What syndrome does this patient have?
a) Goldenhar b) Treacher Collins c) Crouzon d) Apert
What inner ear aplasia will not allow for cochlear implants or amplification aids?
a) Mondini aplasia b) Michel’s aplasia c) Enlarged vestibular aqueduct d) Alexander aplasia
Which inner ear dyplasia is characterized by a lack of septae in the cochlea and only a basal turn?
a) Mondini aplasia b) Michel’s aplasia c) Enlarged vestibular aqueduct d) Alexander aplasia
What is the inheritance pattern of MIDD and MELAS?
What abnormality is noted on this temporal bone CT?
What genetic mutation is responsible for type I and III Waardenburg syndrome?
a) COL2A1 b) Pendrin c) PAX3 d) Chr 22q12
Thanks for listening!