FRCS (ORL-HNS) · SECTION 1 SBA

Enlarged vestibular aqueduct

A child with fluctuating progressive sensorineural hearing loss deteriorates after minor head trauma. CT shows bilateral enlarged vestibular aqueducts. What associated condition should be considered?

CHOOSE ONE ANSWER

Best of five

  1. A. Otosclerosis
  2. B. Waardenburg syndrome
  3. C. Usher syndrome
  4. D. Branchio-oto-renal syndrome
  5. E. Pendred syndrome with SLC26A4-related thyroid disease
ANSWER AND REASONING

E. Pendred syndrome with SLC26A4-related thyroid disease

Enlarged vestibular aqueduct is associated with SLC26A4 variants and Pendred syndrome. Audiological support, genetic counselling and thyroid surveillance should accompany advice that hearing may fluctuate.

Why every option is right or wrong

A. Otosclerosis: This is a stapes and otic-capsule disorder that does not explain congenital enlarged aqueducts.

B. Waardenburg syndrome: This is associated with pigmentary features rather than this characteristic imaging finding.

C. Usher syndrome: Usher syndrome combines deafness with retinitis pigmentosa.

D. Branchio-oto-renal syndrome: This more typically includes branchial anomalies and renal disease.

E. Pendred syndrome with SLC26A4-related thyroid disease: Enlarged vestibular aqueduct is associated with SLC26A4 variants and Pendred syndrome. Audiological support, genetic counselling and thyroid surveillance should accompany advice that hearing may fluctuate.

What if the scenario changed?

If renal anomalies and preauricular pits were present, branchio-oto-renal syndrome would rise in the differential.

EDUCATIONAL USE

Independent Clinora educational preparation material; not official JCIE content, an accredited programme, clinical advice, or a substitute for current guidance, local policy and specialist judgement.

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