Open AccessVon Hippel-Lindau Syndrome- A Case Report
Author(s) -
Suraj Thulung,
Ashish Baniya,
Subodh Sharma Paudel,
Anirudra Devkota,
Shikher Shrestha
Publication year - 2020
Publication title -
journal of brain and spine foundation nepal
Language(s) - English
Resource type - Journals
eISSN - 2738-960X
pISSN - 2738-9561
DOI - 10.3126/jbsfn.v1i1.32227
Subject(s) - von hippel–lindau disease , penetrance , medicine , pathology , variable expression , hydrocephalus , renal cell carcinoma , clear cell , disease , radiology , phenotype , biology , biochemistry , gene
Von Hippel–Lindau (VHL) disease is a rare, familial disorder involving multiple organs, and characterized by the development of many benign and malignant tumors. It is an autosomal dominant disorder with high penetrance and variable expression. We present a case of a 31-year-old gentleman with gradual onset painless bilateral diminution in the vision for one and a half months with significant positive family history. Radiographic study revealed multiple cerebellar hemangioblastomas with obstructive hydrocephalus, renal cortical and pancreatic cysts and cystic renal cell carcinoma. Symptoms were relieved after endoscopic third ventriculostomy. These constellations of findings suggested von Hippel Lindau (VHL) syndrome and we present this case.