Guidelines for routine management of von Hippel-Lindau disease

The subject of the Teaching Course organized by the French Society of Neurosurgery during its Winter meeting in 1998 was phacomatosis. Special interest was given to the Von Hippel-Lindau (VHL) disease. Guidelines for the management of this disease are the following: The diagnosis is established in the presence of two major lesions, or with one major lesion associated with a familial history, or when a VHL gene mutation is detected. An isolated hemangioblastoma (HBM) is associated with the disease in 36 % of the cases when located in the posterior fossa and in 64 % of the cases when located in the spinal cord. The main causes of mortality of VHL are the following : HEM (61 %), renal cancer (31 %) and pheochromocytoma (PCC) (8 %). The percentage of PCC in the French series is 24 %. The percentage of Endolymphatic tumor in the French series is 4 %. No surgery is recommended in case of asymptomatic HEM (but radiosurgery has to be evaluated). Follow-up requires regular clinical examinations, one ophthalmological examination per year, one abdominal ultrasonography per year, and one cerebral MRI every three years.