Neurologic manifestations of von Hippel-Lindau disease

JAMA. 2008 Sep 17;300(11):1334-42. doi: 10.1001/jama.300.11.1334.

Abstract

von Hippel-Lindau disease (VHL) is an autosomal-dominant neoplasia syndrome that is the result of a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. Patients with VHL are predisposed to develop lesions of the central nervous system and viscera. Central nervous system lesions include hemangioblastomas (the most common tumor in VHL) and endolymphatic sac tumors (ELSTs). Visceral manifestations include renal carcinomas and cysts, pancreatic neuroendocrine tumors and cysts, pheochromocytomas, and cystadenomas of the reproductive adnexal organs. Despite their benign pathology, hemangioblastomas and ELSTs are a frequent cause of morbidity and mortality in patients with VHL. Recent molecular biologic investigations into these VHL-associated central nervous system lesions provide new insight into their origin and development. Emerging data from serial imaging and clinical surveillance protocols provide insight into the natural history of these lesions. Because of the dissimilar pathobiology and clinical course between hemangioblastomas and ELSTs, the optimal management strategies for these neurologic manifestations of VHL are very different.

Publication types

  • Case Reports
  • Clinical Conference
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Carcinoma, Renal Cell / diagnosis
  • Carcinoma, Renal Cell / etiology
  • Carcinoma, Renal Cell / surgery
  • Central Nervous System Neoplasms / diagnosis
  • Central Nervous System Neoplasms / etiology*
  • Central Nervous System Neoplasms / surgery
  • Disease Progression
  • Ear Neoplasms / diagnosis
  • Ear Neoplasms / etiology*
  • Ear Neoplasms / surgery
  • Endolymphatic Sac*
  • Female
  • Hearing Loss, Sensorineural / etiology
  • Hemangioblastoma / diagnosis
  • Hemangioblastoma / etiology*
  • Hemangioblastoma / surgery
  • Humans
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / etiology
  • Kidney Neoplasms / surgery
  • Pancreatic Cyst / diagnosis
  • Pancreatic Cyst / etiology
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics
  • von Hippel-Lindau Disease / complications*
  • von Hippel-Lindau Disease / diagnosis*

Substances

  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human