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ENT > 1: Hearing Loss in Children > Flashcards

1: Hearing Loss in Children Flashcards

1
Q

What is microtia

A

Failure of external auditory canal to develop

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2
Q

What is the inheritance pattern of treacher-collins

A

Autosomal Dominant

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3
Q

How does treacher-collins present

A
  • External auditory atresia
  • Mid-facial hypoplasia
  • Downward slanting palpabrae
  • Conductive HL
  • Coloboma of lower eyelid
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4
Q

what type of hearing loss is present in treacher-collins

A

Conductive HL

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5
Q

what is the inheritance pattern of brachial-otorenal syndrome

A

Autosomal dominant

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6
Q

what gene is affected in brachial-otorenal syndrome

A

EYA1

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7
Q

how does brachial-ototrenal syndrome present clinically

A
  • Per-auricular pits
  • Brachial sinus fistula
  • Renal hypoplasia
  • Widened aqueduct
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8
Q

what is the inheritance of pendred syndrome

A

Autosomal recessive

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9
Q

how does pendred syndrome present clinically

A

Bilateral SNHL and Goitre

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10
Q

what is the commonest cause of sensorineural hearing loss in children

A

Cytomegalovirus

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11
Q

what are 4 features of congenital cytomegalovirus infection

A
  • SNHL
  • Pin-point petechial rash (Blueberry)
  • Microcephaly
  • Hepatosplenomegaly
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12
Q

how is congenital CMV infection managed

A

IV Valgancyclovir

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13
Q

what is the most-common non-syndromic cause of congenital deafness

A

Connexin-26 Deafness

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14
Q

how does connexin-26 deafness present

A

SNHL

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15
Q

what is the most common complication of meningitis

A

SNHL

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16
Q

what should all children following meningitis infection receive

A

Hearing assessment

17
Q

why is it important to treat meningitis - from an audiology perspective and why

A

Want to treat meningitis before it leads to labrynthitis ossificans - as this is a CI for cochlear implants

18
Q

How does jervell-lange syndrome present

A

SNHL

Prolong QT

19
Q

What is the inheritance pattern of osteogenesis imperfects

A

Autosomal Dominant

20
Q

What is mutated in osteogenesis imperfecta

A

Mutation in pro-collagen I

21
Q

how does osteogenesis imperfecta present clinically

A
  • Brittle bones (fractures)

- Bilateral SNHL

22
Q

how does stickler syndrome present

A

SNHL
Myopia
Retinal detachment
Mid-facial hypoplasia

23
Q

what is the inheritance pattern of waardenburg syndrome

A

Autosomal dominant

24
Q

what is waardenburg syndrome

A

Failure of melanocyte differentiation

25
Q

how does waardenburg son drove present clinically

A
  • Pale blue eyes
  • Grey hair
  • SNHL
26
Q

what is the inheritance pattern of Alport syndrome

A

X-Linked autosomal dominant

27
Q

What causes Alport syndrome

A

Defect in collagen type IV and anti-GBM antibodies

28
Q

What are 5 features of Alport Syndrome

A
  • SNHL
  • Lenticonus
  • Retinitis pigments
  • Haematuria
  • Renal failure

ENT (16 decks)

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