Brain : a journal of neurology
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Von Hippel-Lindau disease is an autosomal dominant multisystem disorder, the commonest presenting manifestations of which are haemangioblastomas of the cerebellum and retina. Affected individuals are at risk of developing a number of other lesions, the most serious of which are renal carcinoma, haemangioblastomas elsewhere in the central nervous system and phaeochromocytoma. Patients with this disease can therefore present to a number of disciplines during their lifetime and unless the possibility of von Hippel-Lindau disease is considered, the patient may wrongly be assumed to have an isolated lesion. ⋯ Clinically significant manifestations almost invariably developed before the age of 50 years. Limited screening of our index cases and their at-risk relatives demonstrated one asymptomatic renal carcinoma. We propose a protocol for screening all individuals at risk of von Hippel-Lindau disease, which involves annual retinal examination from five years, and biennial computerized tomography of the head and abdomen from fifteen and twenty years, respectively.