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Radiology · Neuroimaging: haemangioblastoma
Sample itemA patient with retinal angiomas and polycythaemia has a cerebellar cystic mass with an enhancing mural nodule. Which syndrome should be considered?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Von Hippel-Lindau disease
Cerebellar haemangioblastomas, retinal angiomas, renal cell carcinoma, pheochromocytoma and pancreatic cysts are features of VHL. The mural nodule is the vascular tumour and the cyst is the fluid-secreting part. Erythropoietin production can cause polycythaemia.
Option by option
A. Tuberous sclerosis
Tuberous sclerosis shows cortical tubers and subependymal nodules.
B. Neurofibromatosis type 1
NF1 shows optic gliomas and neurofibromas.
C. Von Hippel-Lindau disease (correct)
Correct. A cerebellar cystic mass with a nodule and retinal angiomas indicates VHL.
D. Sturge-Weber syndrome
Sturge-Weber shows leptomeningeal angioma and tram-track calcification.
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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