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Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February.

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Presentation on theme: "Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February."— Presentation transcript:

1 Congenital Hearing Loss Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009 Ashley Starkweather, MD UCLA Head and Neck Surgery February 25, 2009

2 Etiology  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

3 Genetic 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

4 Autosomal 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

5 Autosomal recessive syndromal HL  Usher syndrome  Pendred  Jervel and Lange Nielsen  Goldenhar (Oculoauriculoverterbral spectrum)  Usher syndrome  Pendred  Jervel and Lange Nielsen  Goldenhar (Oculoauriculoverterbral spectrum)

6 Usher 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

7 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  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

8 Usher 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

9 Usher

10 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  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

11  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).

12 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

13 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  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

14 Goldenhar Syndrome

15 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

16 AD Syndromes  Waardenburg  Treacher Collins  Apert  Crouzon  Stickler  Neurofibromatosis  Brancio-oto-renal  Waardenburg  Treacher Collins  Apert  Crouzon  Stickler  Neurofibromatosis  Brancio-oto-renal

17 Waardenburg 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

18 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  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

19 Waardenburg 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)

20 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

21 Treacher Collins

22 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

23 Apert

24 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

25 Crouzon

26 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  Progressive Arthro-Ophthalmopathy  Progressive SNHL (80%)  Marfanoid body habitus  Severe myopia, retinal detachment  Flat midface  Hypermobile joints  Pierre Robin sequence: micrognathia, glossoptosis, cleft palate

27 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 (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)

28 NF-1

29 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%

30 X-linked Disorders  Alport’s syndrome  Otopalatal-digital  Norrie syndrome  Alport’s syndrome  Otopalatal-digital  Norrie syndrome

31 Alport’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

32 Alport’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

33 Otopalatal-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

34 Otopalatal- digital

35 Norrie Syndrome  Blindness  Progressive mental retardation  Hearing loss  Blindness  Progressive mental retardation  Hearing loss

36 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  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

37 Acquired Congenital HL  Prenatal: infections, teratogens  Perinatal: NICU admission  Postnatal: infections, neoplasms  Prenatal: infections, teratogens  Perinatal: NICU admission  Postnatal: infections, neoplasms

38 Prenatal Infections  TORCHS:  Toxoplasmosis  Rubella  CMV  HSV encephalitis  Syphilis  TORCHS:  Toxoplasmosis  Rubella  CMV  HSV encephalitis  Syphilis

39 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 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

40 CMV  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 IgM, intranuclear inclusions “owl eyes” in renal tubular cells on UA

41 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  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

42 Prenatal Teratogens  EtOH  Thalidomide  Radiation  Aminoglycosides  EtOH  Thalidomide  Radiation  Aminoglycosides

43 Perinatal Causes of HL  Hypoxia  Kernicterus  Persistent fetal circulation  Hypoxia  Kernicterus  Persistent fetal circulation

44 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)  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)

45 Inner 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

46 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  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

47 Mondini 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

48

49 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  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

50 Alexander 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

51 Enlarged 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

52 Thanks for listening!

53 Questions  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%

54  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%

55  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

56  What is the primary inheritance pattern for Alport’s syndrome?

57  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

58  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

59  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

60  What is the inheritance pattern of MIDD and MELAS?

61  What abnormality is noted on this temporal bone CT?

62  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

63 Thanks for listening!


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