Von Hippel-Lindau syndrome: a report on three kindreds.

Von Hippel-Lindau syndrome is characterized by angiomatous cysts of the retina, cerebellum, abdominal organs (principally the kidneys and pancreas), and epididymis. Von Hippel (1904) first described angiomatous formation in the retina. Lindau (1926) was the first to recognize the related occurrence of haemangioblastomata of the cerebellum and abdominal organs. Phaeochromocytoma with hypertension has been reported in some patients (Chapman and Diaz-Perez, 1962). The angiomatous cysts in both retina and cerebellum have been attributed to proliferation of mesodermal remnants with intimately related ectodermal changes (Michaelson and Hill, 1949). Cerebellar tumours engender a rise in intracranial pressure with the usual sequelae as well as specific neurological loss with localizing signs (Cushing and Bailey, 1928), while retinal cysts ultimately result in blindness (Rados, 1950). The combination of hypertension with angioma may lead to subarachnoid haemorrhage. The response to therapeutic irradiation is variable (Isaac, Schoen, and Walker, 1956), and the prognosis is usually poor. The clinical aspects of the syndrome were comprehensively reviewed by Melmon and Rosen (1964). The familial nature of the syndrome has been noted and autosomal dominant inheritance suggested as the likely mode of transmission (Pratt, 1953). In this communication three independent cases are reported, one from an extensive kindred with seven affected individuals. The modes of inheritance seem to include simple autosomal dominance, autosomal dominance with incomplete penetrance, and autosomal recessive transmission.