Guidelines for routine management of von Hippel-Lindau disease

The subject of the Teaching Course organized by the French Society of Neuro surgery during its Winter meeting in 1998 was phacomatosis. Special interes t was given to the Von Hippel-Lindau (VHL) disease. Guidelines for the mana gement 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 mut ation is detected. An isolated hemangioblastoma (HBM) is associated with the disease in 36 % o f the cases when located in the posterior fossa and in 64 % of the cases wh en located in the spinal cord. The main causes of mortality of VHL are the following : HEM (61 %), renal c ancer (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 exam ination per year, one abdominal ultrasonography per year, and one cerebral MRI every three years.