[The two familial occurrence of von Hippel-Lindau disease]

Five cases of von Hippel-Lindau disease in two families were reported. In one family there were 2 cases in a mother (55 years old) and her daughter (26 years old) which had multiple hemangioblastomas in the optic nerve, cerebellum and spinal cord in each case. Retinal angioma appeared in the case of daughter, but not in the mother. In the other family there were 3 cases in a father (28 years old), his son (11 years old) and daughter (14 years old). All of them had retinal angioma and cerebellar hemangioblastoma. Two cases out of 5 cases in the two families were associated with abdominal organ diseases which were renal cell carcinoma in a case and pancreas cyst in the other. The familial occurrence of von Hippel-Lindau disease in Japan was recognized in 21 families with 103 cases including our cases. On the study of reported cases hemangioblastoma frequently occurred in multiple region such as cerebellum, medulla oblongata and frequently presented with renal cell carcinoma, pheochromocytoma and cyst in pancreas, kidney and liver. The location of hemangioblastoma and combined disease was similar in cases in each family. The age of onset of von Hippel-Lindau disease in the second generation was younger than that of the first generation.