UNLV UCLA Brochure - UCLA Extension Business, Management ...
Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley...
-
Upload
vivian-woodberry -
Category
Documents
-
view
219 -
download
0
Transcript of Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley...
![Page 1: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/1.jpg)
Congenital Hearing LossCongenital Hearing Loss
Ashley Starkweather, MD
UCLA Head and Neck Surgery
February 25, 2009
Ashley Starkweather, MD
UCLA Head and Neck Surgery
February 25, 2009
![Page 2: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/2.jpg)
EtiologyEtiology
Congenital HL 50% Genetic 50% Acquired
Childhood Onset HL 50% Genetic 25% Acquired 25% Unknown
Congenital HL 50% Genetic 50% Acquired
Childhood Onset HL 50% Genetic 25% Acquired 25% Unknown
![Page 3: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/3.jpg)
Genetic HLGenetic HL
75% non-syndromal 25% syndromal
75% autosomal recessive (AR) 25% autosomal dominant (AD) 1-2% X-linked Rare mitochondrial
75% non-syndromal 25% syndromal
75% autosomal recessive (AR) 25% autosomal dominant (AD) 1-2% X-linked Rare mitochondrial
![Page 4: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/4.jpg)
Autosomal recessive HLAutosomal recessive HL
Monogenic, 25% risk to offspring if both parents are carriers
Severe to profound SNHL, prelingual onset
Monogenic, 25% risk to offspring if both parents are carriers
Severe to profound SNHL, prelingual onset
![Page 5: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/5.jpg)
Autosomal recessive syndromal HL
Autosomal recessive syndromal HL
Usher syndrome Pendred Jervel and Lange Nielsen Goldenhar (Oculoauriculoverterbral
spectrum)
Usher syndrome Pendred Jervel and Lange Nielsen Goldenhar (Oculoauriculoverterbral
spectrum)
![Page 6: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/6.jpg)
Usher SyndromeUsher Syndrome
Retinitis pimentosa and SNHL Night blindness > field cut > central
blindness Most common cause of congenital deafness Dx: electroretinography
Retinitis pimentosa and SNHL Night blindness > field cut > central
blindness Most common cause of congenital deafness Dx: electroretinography
![Page 7: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/7.jpg)
Usher TypesUsher 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
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
![Page 8: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/8.jpg)
Usher TypesUsher Types
Type III: Progressive SNHL and vestibular dysfunction Vestibulocerebellar ataxia
Type IV: Mental retardation and hypotonia
Type III: Progressive SNHL and vestibular dysfunction Vestibulocerebellar ataxia
Type IV: Mental retardation and hypotonia
![Page 9: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/9.jpg)
Usher Usher
![Page 10: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/10.jpg)
Pendred SyndromePendred 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
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
![Page 11: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/11.jpg)
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).
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).
![Page 12: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/12.jpg)
Jervell and Lange Nielsen 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
Congenital profound SNHL Prolonged QT interval with syncope,
sudden death Gene mutation: KVKQT1 = abnormal K+
channel Dx: EKG Tx: Beta blockers, hearing aids
![Page 13: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/13.jpg)
Goldenhar SyndromeGoldenhar 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
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
![Page 14: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/14.jpg)
Goldenhar SyndromeGoldenhar Syndrome
![Page 15: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/15.jpg)
Autosomal Dominant Autosomal Dominant
Vertical pattern of inheritance Risk to offspring of 50% if 1 parent
affected Variable penetrance and expressivity Often postlingual hearing loss, progressive
Vertical pattern of inheritance Risk to offspring of 50% if 1 parent
affected Variable penetrance and expressivity Often postlingual hearing loss, progressive
![Page 16: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/16.jpg)
AD SyndromesAD Syndromes
Waardenburg Treacher Collins Apert Crouzon Stickler Neurofibromatosis Brancio-oto-renal
Waardenburg Treacher Collins Apert Crouzon Stickler Neurofibromatosis Brancio-oto-renal
![Page 17: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/17.jpg)
Waardenburg SyndromeWaardenburg Syndrome
Abnormal tyrosine metabolism
Pigment abnormalities: heterochromic iriditis, white forelock, patchy skin depigmentation
Craniofacial abnormalities: dystopia canthorum, synophrys, flat nasal root
Abnormal tyrosine metabolism
Pigment abnormalities: heterochromic iriditis, white forelock, patchy skin depigmentation
Craniofacial abnormalities: dystopia canthorum, synophrys, flat nasal root
![Page 18: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/18.jpg)
Waardenburg TypesWaardenburg 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
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
![Page 19: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/19.jpg)
Waardenburg TypesWaardenburg Types
Type III (most severe): Unilateral ptosis and skeletal abnormalities PAX3 mutation
Type IV: Type II plus Hirschsprung’s disease
(aganglionic megacolon)
Type III (most severe): Unilateral ptosis and skeletal abnormalities PAX3 mutation
Type IV: Type II plus Hirschsprung’s disease
(aganglionic megacolon)
![Page 20: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/20.jpg)
Treacher Collins (Mandibulofacial dysostosis)
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
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
![Page 21: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/21.jpg)
Treacher CollinsTreacher Collins
![Page 22: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/22.jpg)
Apert Syndrome(Acrocephalosyndactyly)
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
Middle and inner ear affected Stapes fixation (CHL), patent cochlear
aqueduct, large subarcuate fossa Hand syndactyly, midface abnormalities,
craniofacial dysostosis, trapezoid mouth
![Page 23: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/23.jpg)
ApertApert
![Page 24: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/24.jpg)
Crouzon Syndrome(craniofacial dysostosis)
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
Atresia and stenosis of EAC, CHL, ossicular deformities
Cranial synostosis, small maxilla, exophthalmos, parrot nose, short upper lip, mandibular prognathism, hypertelorism
Abnormal FGF receptors
![Page 25: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/25.jpg)
CrouzonCrouzon
![Page 26: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/26.jpg)
Stickler SyndromeStickler 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
Progressive Arthro-Ophthalmopathy Progressive SNHL (80%) Marfanoid body habitus Severe myopia, retinal detachment Flat midface Hypermobile joints Pierre Robin sequence: micrognathia,
glossoptosis, cleft palate
![Page 27: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/27.jpg)
NeurofibromatosisNeurofibromatosis
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 (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)
![Page 28: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/28.jpg)
NF-1NF-1
![Page 29: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/29.jpg)
Branchio-oto-renal (Melnick Fraser Syndrome)
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%
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%
![Page 30: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/30.jpg)
X-linked DisordersX-linked Disorders
Alport’s syndrome Otopalatal-digital Norrie syndrome
Alport’s syndrome Otopalatal-digital Norrie syndrome
![Page 31: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/31.jpg)
Alport’s SyndromeAlport’s Syndrome
X-linked 80%, autosomal dominant 20%
Progressive glomerulonephritis and SNHL
Abnormal type IV collagen in GBM; gene COL4A5
X-linked 80%, autosomal dominant 20%
Progressive glomerulonephritis and SNHL
Abnormal type IV collagen in GBM; gene COL4A5
![Page 32: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/32.jpg)
Alport’s SyndromeAlport’s Syndrome
Bilateral degeneration of organ of Corti and stria vascularis
Ocular disorders (myopia, cataracts) Dx: UA, BUN, Cr Tx: dialysis, renal transplant
Bilateral degeneration of organ of Corti and stria vascularis
Ocular disorders (myopia, cataracts) Dx: UA, BUN, Cr Tx: dialysis, renal transplant
![Page 33: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/33.jpg)
Otopalatal-digitalOtopalatal-digital
Ossicular malformation (CHL) Palate defects Digital abnormalities: broad fingers and
toes Hypertelorism, short stature, mental
retardation
Ossicular malformation (CHL) Palate defects Digital abnormalities: broad fingers and
toes Hypertelorism, short stature, mental
retardation
![Page 34: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/34.jpg)
Otopalatal-digital
Otopalatal-digital
![Page 35: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/35.jpg)
Norrie SyndromeNorrie Syndrome
Blindness Progressive mental retardation Hearing loss
Blindness Progressive mental retardation Hearing loss
![Page 36: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/36.jpg)
Mitochondrial DisordersMitochondrial 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
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
![Page 37: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/37.jpg)
Acquired Congenital HLAcquired Congenital HL
Prenatal: infections, teratogens Perinatal: NICU admission Postnatal: infections, neoplasms
Prenatal: infections, teratogens Perinatal: NICU admission Postnatal: infections, neoplasms
![Page 38: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/38.jpg)
Prenatal InfectionsPrenatal Infections
TORCHS: Toxoplasmosis Rubella CMV HSV encephalitis Syphilis
TORCHS: Toxoplasmosis Rubella CMV HSV encephalitis Syphilis
![Page 39: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/39.jpg)
RubellaRubellaCataracts, 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
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
![Page 40: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/40.jpg)
CMVCMV 1-2% of live births Only 10% have HL Hemolytic anemia, microcephaly, mental
retardation, HSM, jaundice, cerebral calcifications
1-2% of live births Only 10% have HL Hemolytic anemia, microcephaly, mental
retardation, HSM, jaundice, cerebral calcifications
Dx: serum anti-CMV Dx: serum anti-CMV IgM, intranuclear IgM, intranuclear inclusions “owl eyes” inclusions “owl eyes” in renal tubular cells in renal tubular cells on UAon UA
![Page 41: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/41.jpg)
SyphilisSyphilis
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
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
![Page 42: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/42.jpg)
Prenatal TeratogensPrenatal Teratogens
EtOH Thalidomide Radiation Aminoglycosides
EtOH Thalidomide Radiation Aminoglycosides
![Page 43: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/43.jpg)
Perinatal Causes of HLPerinatal Causes of HL
Hypoxia Kernicterus Persistent fetal circulation
Hypoxia Kernicterus Persistent fetal circulation
![Page 44: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/44.jpg)
Postnatal Causes of HLPostnatal 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)
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)
![Page 45: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/45.jpg)
Inner Ear DysmorphologiesInner Ear Dysmorphologies
Michel’s aplasia Mondini aplasia Scheibe aplasia Alexander aplasia Bing Siebenmann Enlarged vestibular aqueduct Absence of CN VIII
Michel’s aplasia Mondini aplasia Scheibe aplasia Alexander aplasia Bing Siebenmann Enlarged vestibular aqueduct Absence of CN VIII
![Page 46: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/46.jpg)
Michel’s aplasiaMichel’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
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
![Page 47: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/47.jpg)
Mondini AplasiaMondini Aplasia
AD Most common cochlear abnormality Progressive or fluctuating HL risk of perilymphatic gusher and
meningitis from dilated cochlear aqueduct Dx: CT reveals single turned cochlea, no
interscalar septum Tx: HA, cochlear implant
AD Most common cochlear abnormality Progressive or fluctuating HL risk of perilymphatic gusher and
meningitis from dilated cochlear aqueduct Dx: CT reveals single turned cochlea, no
interscalar septum Tx: HA, cochlear implant
![Page 48: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/48.jpg)
![Page 49: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/49.jpg)
Schiebe AplasiaSchiebe 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
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
![Page 50: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/50.jpg)
Alexander AplasiaAlexander Aplasia
AR Abnormal cochlear duct/ basal turn High frequency SNHL Cannot diagnose on CT
AR Abnormal cochlear duct/ basal turn High frequency SNHL Cannot diagnose on CT
![Page 51: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/51.jpg)
Enlarged vestibular aqueductEnlarged vestibular aqueduct
Defined by diameter of duct >2mm at midpoint
Progressive cochleovestibular loss No treatment
Defined by diameter of duct >2mm at midpoint
Progressive cochleovestibular loss No treatment
![Page 52: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/52.jpg)
Thanks for listening!Thanks for listening!
![Page 53: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/53.jpg)
QuestionsQuestions
What % of patients with NF-1 have acoustic neuromas?a) 5%
b) 20%
c) 50%
d) 95%
What % of patients with NF-1 have acoustic neuromas?a) 5%
b) 20%
c) 50%
d) 95%
![Page 54: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/54.jpg)
What % of patients with NF-2 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%
![Page 55: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/55.jpg)
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 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
![Page 56: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/56.jpg)
What is the primary inheritance pattern for Alport’s syndrome?
What is the primary inheritance pattern for Alport’s syndrome?
![Page 57: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/57.jpg)
What syndrome does this patient have?
a) Goldenhar
b) Treacher Collins
c) Crouzon
d) Apert
What syndrome does this patient have?
a) Goldenhar
b) Treacher Collins
c) Crouzon
d) Apert
![Page 58: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/58.jpg)
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
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
![Page 59: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/59.jpg)
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
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
![Page 60: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/60.jpg)
What is the inheritance pattern of MIDD and MELAS?
What is the inheritance pattern of MIDD and MELAS?
![Page 61: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/61.jpg)
What abnormality is noted on this temporal bone CT?
What abnormality is noted on this temporal bone CT?
![Page 62: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/62.jpg)
What genetic mutation is responsible for type I and III Waardenburg syndrome?
a) COL2A1
b) Pendrin
c) PAX3
d) Chr 22q12
What genetic mutation is responsible for type I and III Waardenburg syndrome?
a) COL2A1
b) Pendrin
c) PAX3
d) Chr 22q12
![Page 63: Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.](https://reader036.fdocuments.in/reader036/viewer/2022062417/551a9f9d55034643688b6382/html5/thumbnails/63.jpg)
Thanks for listening!Thanks for listening!