Von Hippel-Lindau disease: A Case Report
Abstract
INTRODUCTION: Von Hippel-Lindau (VHL) disease is characterized by the development of numerous benign and malignant tumours of atleast 40 types in different organs due to mutation in VHL tumour suppressor gene on chromosome 3. This disease is very rare with an estimated prevalence of 1:35,000-50,000. Cerebellar haemangioblastomas are a cardinal feature of VHL disease and are the presenting feature in upto 40% of cases. We are presenting a case of multiple cerebellar haemangioblastomas with VHL disease.
KEY WORDS: Von Hippel Lindau, Cerebellar haemangioblastomas, Renal cell carcinoma, Pheochromocytoma, Endolymphatic sac tumour
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