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Oto Board Pearls of Wisdom - Section III Diseases, Disorders, and Conditions > 27 Congenital - Ear > Flashcards

27 Congenital - Ear Flashcards

1
Q

Incidence of congenital hearing loss

A

1:1000

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2
Q

What percent of congenital hearing loss is hereditary and what percent of those are syndromic

A

> 60% (others say 50%); 30%

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3
Q

What is the typical inheritance pattern of syndromic HL

A

Auto Dom

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4
Q

Typical inheritance patterns of non-syndromic HL

A

75% Auto Rec
10-20% Auto Dom
2-3% X-linked
<1% mitochondrial

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5
Q

What genetic mutation is though to be responsible for 50-80% of all AR HL?

A

Mutation of the DFNB1 gene on chrom 13q encoding for connexin 26 (causes 27% of sporadic cases of congen HL)

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6
Q

T/F: 1 in 31 ppl are carriers for the connexin 26 mutation

A

True

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7
Q

What is function of connexin 26

A

Formation of gap jnc in stria vascularis, BM, limbus, and spiral prominence of cochlea (transports K+)

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8
Q

What is the typical severity and pattern of AD HL

A

Less severe, delayed onset, high-freq HL

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9
Q

What is the typical severity and pattern of X-linked HL

A

Prelingual and more clinically diverse HL

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10
Q

What is term for complete agenesis of petrous portion of temporal bone

A

Michel aplasia

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11
Q

What is term for developmentally deformed cochlear where only the basal coil can be identified

A

Mondini aplasia

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12
Q

What is m/c form of inner ear aplasia

A

Scheibe aplasia (cochleosaccular dysplasia or pars inferior dysplasia)

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13
Q

Which inner ear aplasia is characterized by high freq HL with nl low freq HL

A

Alexander

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14
Q

Which inner ear aplasia will not allow cochlear implant or amplification aids

A

michel aplasia

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15
Q

Mutation of what gene is a/w EVA

A

Pendrin on chrom 7q31

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16
Q

What inner ear malformation is a/w early onset SNHL, usu b/l and progressive and vertigo

A

EVA

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17
Q

Which SCC forms first? Last?

A

Superior canal first; lateral canal last

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18
Q

T/F: Superior SCC deformities are always accompanied by lateral SCC deformities

A

True

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19
Q

What syndrome accounts for m/c form of hereditary congenital deafness

A

Waardenburg’s synd (I thought it was Ushers)

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20
Q

What is incidence of Waardenburg’s

A

1 in 4000

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21
Q

What are the 4 clinical subtypes of Waardenburgs

A

“1. SNHL (20%), heterochromia irides, pigment anomalies, dystopia canthorum

  1. As above, without dystopia canthorum (SNHL in >50%).
  2. Klein–Waardenburg’s syndrome: microcephaly, mental retardation, limb and skeletal abnormalities, in addition to signs of #1.
  3. Shah-Waardenburg’s syndrome: #2 + Hirschsprung’s disease
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22
Q

What genetic mutation is responsible for most cases of types 1 and 3 Waardenburg’s

A

Mutation of PAX3 gene on chrom 2q37

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23
Q

What is dystopia canthorum

A

Shortened and fused medial eyelids resulting in small medial sclera, lateral displacement of inferior puncta and hypertelorism

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24
Q

What synd is characterized by CP, micrognathia, severe myopia, retinal detachments, marganoid habitus, and HL

A

Stickler

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25
Q

What genetic mutations are responsible for most cases of Stickler synd

A

Mutations of COL2A1 gene on chrom 12 or COLIIA2 gene on chrom 6

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26
Q

Synd c/b SNHL and RP

A

Usher’s

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27
Q

3 subtypes of Usher’s

A

I—Severe–profound hearing loss, absent vestibular function, prepubertal retinitis pigmentosa.
II—Moderate–severe hearing loss, normal vestibular function, postpubertal retinitis pigmentosa.
III—Progressive hearing loss.

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28
Q

M/c syndromic cause of HL

A

Pendred synd, accounting for 10% of cases

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29
Q

What inner ear malformations are more common in pts with Pendred

A

Mondini aplasia and EVA

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30
Q

What gene is a/w both Pendred synd and EVA

A

PDS gene, encoding for pendrin protein, on chrom 7q31

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31
Q

What are the clinical features of Alport synd

A

SNHL and renal failure (presenting as hematuria)

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32
Q

What is basic defect causing Alport

A

Mutation of COL4A5 gene producing the alpha chain of Type IV collage in BM

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33
Q

What syndrome is c/b HL, renal defects, and cervical fistulas

A

BOR (branchiootorenal)

34
Q

What is inheritance of BOR

A

Auto Dom

35
Q

What percent of BOR pts have HL

A

80% (50% mixed, 30% CHL, 20% SNHL)

36
Q

What is gene responsible for BOR

A

EYA1 on chrom 8q13.3

37
Q

Clinical features of Jervell and Lange-Nielsen’s synd

A

Prolonged QT, syncope, sudden death, HL

38
Q

What is basic defect causing JLN

A

Abnl K+ channels

39
Q

What % of pts with NF1 have AN

A

5% and usu u/l

40
Q

What % of pts with NF2 have AN

A

95% and usu b/l

41
Q

Which type of NF is c/b cutaneous neurofirbromas

A

NF1

42
Q

Genetic mutations for NF1 and NF2

A
  • NF1 gene (nerve growth factor gene) on chrom 17q11.2

- NF2 gene (tsg) on chrom 22q12.2

43
Q

WHat is name for subtype of osteogenesis imperfecta in which progressive HL begins in early childhood

A

Van der Hoeve’s synd

44
Q

Genetic mutations for osteogenesis imperfecta

A
  • COLIA1 on chrom 17q

- COLIA2 on chrom 7q

45
Q

What dz is c/b cranial synostosis, exophthalmos, parrot-beak nose, and hypoplastic mandible

A

Crouzon

46
Q

What is basic defect of Crouzon’s

A

Abnl fibroblast growth factor receptors

47
Q

What is Norrie synd

A

X-linked dz c/b blindness, progressive MR, and HL

48
Q

What synd is c/b hypertelorism, short stature, broad fingers and toes, CP, and CHL

A

Otopalatodigital synd

49
Q

X-linked synd a/w Klippel-Fiel synd, SNHL, CN VI paralysis

A

Wildervanck synd

50
Q

What dz is c/b lower lid colobomas, downward slanting palpebral fissures, hypoplastic mandible, malformations of external ear, CP, HL

A

Treacher-Collins (auto dom)

51
Q

Treacher collins mutation

A

TCOF1 on 5q (protein Treacle)

52
Q

“What do Keams–Sayre, MELAS, MERRF, and Leber’s hereditary optic neuropathy all have in common?

A

All mitochondrial d/o w/ varying degrees of HL

53
Q

What organism is m/c a/w virus-induced congenital deafness

A

CMV

54
Q

what percent of kids with congenital CMV have HL

A

10% are born with HL, 10-15% eventually develop HL

55
Q

What manifestation of congen syphilis is m/c related to SNHL

A

Interstitial keratitis

56
Q

3 classic findings of congen rubella synd

A

SNHL, cataracts, heart malformations

57
Q

If one parent and one sibling are deaf, what is risk of HL for subsequent offspring

A

40%

58
Q

What percent of infants w/ sig congen HL will not have RF

A

50%

59
Q

What is incidence of congen aural atresia

A

1:10,000-20,000

60
Q

What % of aural atresia is b/l

A

33%

61
Q

What does stenosis of EAC predispose to

A

canal cholesteatoma

62
Q

Which portion of ossicular chain is least likely to be malformed in pts with congenital aural atresia

A

stapes footplate

63
Q

What is incidence of FN displacement in congen aural atresia

A

25-30%

64
Q

What is a congenital cholesteatoma

A

embryonal inclusion of undifferentiated squamous epith in ME behind intact TM, usu w/ no h/o OM

65
Q

Other than middle ear, where else may congen cholesteatomas arise

A

petrous apex, CPA, mastoid, EAC

66
Q

What % of congen cholesteatoma is b/l

A

3%

67
Q

T/F: Mastoid bones of pt w/ congen cholesteatoma are most often well aerated

A

true

68
Q

What is thought to be cause of congen malleus ankylosis

A

“Poor development of the epitympanic space leaves the head of the incus and malleus in close contact with the tegmen; a bony bridge can result between the epitympanum and the head of the malleus.

69
Q

“True/False: Histologically, the bony structures are normal, without evidence of otosclerosis, in cases of malleus ankylosis.

A

true

70
Q

What is optimal tx for malleus fixation

A

removal of head of malleus and interpositionof incus b/w manubrium and stapes head

71
Q

“What genetic defect results in either Jansen’s chondrodystrophy or Blomstrand’s chondrodystrophy?

A

“Mutation of the type 1 parathyroid hormone receptor.

72
Q

What is ciliary defect in pts with Kartagener’s

A

Absence of dynein side arms on A-tubules

73
Q

What is m/c site of CSF leak from inner ear into middle ear in kids

A

oval window (esp if mondini malformation)

74
Q

What are 2 types of congen defects that lead to spontaneous CSF otorrhea

A

preformed bony pathway around the bony labryinth (a/w meningitis), often a/w meningocele and aberrant arachnoid granulations located over a pneumatized area of skull

75
Q

Why does CSF otorrhea present late (50s) when caused by arachnoid granulations

A

Arachnoid granulations become larger with time; the nl pulsation of CSF pressure can cause bony erosion

76
Q

What synd is c/b recurrent episodes of vertigo and ataxia in several members of a family?

A

Familial ataxia syndrome

77
Q

“Of the four variants of this syndrome (EA1, EA2, EA3, EA4), which one does not respond to acetazolamide?

A

EA3 of periodic vestibulocerebellar ataxia

78
Q

“Which of these 4 variants is caused by mutations in a potassium channel gene (KCNA1) on 12p13?

A

EA1

79
Q

What are the 2 m/c variants of this syndrome

A

EA1 and EA2

80
Q

Which of these is a/w vertigo and results from mutations of a calcium channel gene of 19p

A

EA2

81
Q

What gene mutation is behind EA1

A

K+ channel gene KCNA1 on 12p13

82
Q

Which variant is a/w migraine

A

EA2

Oto Board Pearls of Wisdom - Section III Diseases, Disorders, and Conditions (14 decks)

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