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ENT · Tumours: endolymphatic sac tumour
Sample itemAn endolymphatic sac tumour is associated with which hereditary syndrome?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Von Hippel-Lindau disease
Endolymphatic sac tumours, which can cause hearing loss and vertigo mimicking Meniere's disease, occur in a proportion of patients with VHL. Bilateral tumours strongly suggest the syndrome. NF2 is associated with bilateral vestibular schwannomas.
Option by option
A. Tuberous sclerosis
Tuberous sclerosis causes hamartomas, not sac tumours.
B. Sturge-Weber syndrome
Sturge-Weber is a vascular neurocutaneous syndrome.
C. Von Hippel-Lindau disease (correct)
Correct. VHL is the association.
D. Neurofibromatosis type 2
NF2 causes bilateral vestibular schwannoma.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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