J Korean Neurosurg Soc.  1996 Jul;25(7):1500-1508.

Familial Occurrence of Von hippel-Lindau Disease: Case Report

• Lee HW
• Lee SI
• Jung YT
• Choi BO
• Kim SC
• Sim JH

Abstract

Hemangioblastoma is an uncommon tumor of the central nervous system, accounting for only 1 % to 2.5% of all intracranial neoplasms. Hemangioblastoma can occur either sporadically or as a manifestation of von Hippel-Lindau diseasean inherited disorder of the autosomal dominant trait-characterized by tumors or tumor-like lesions developing in several organs including angioma of retina, pheochromocytoma, cyst or carcinoma in kidney and pancreas. We have encountered a family in which two male members were histologically diagnosed as suffering from von Hippel-Lindau disease and another male member was clinically suspected of suffering from spinal hemangioblastoma. The pathophysiology and genetic aspect of von Hippel-Lindau disease are discussed with review of literatures.

Keyword

Hemangioblastoma; Von Hippel-Lindau disease; Familial occurrence; Autosomal dominant

MeSH Terms

Brain Neoplasms
Central Nervous System
Hemangioblastoma
Hemangioma
Humans
Kidney
Male
Pancreas
Pheochromocytoma
Retina
von Hippel-Lindau Disease*