The radiographic manifestations of von Hippel-Lindau disease.
The radiographic findings and method of investigation are presented in the retrospective and prospective study of 221 descendents of an individual affected with von Hippel-Lindau disease. Among 42 affected individuals, most of the reported manifestations were found, such as cerebellar hemangioblastoma, retinal angioma, and renal cell carcinoma. A new manifestation, pancreatic carcinoma, was also seen. Although pheochromocytoma is common in some reported families, no cases were found in this group. An organized multidisciplinary approach is necessary to effectively identify and treat individuals affected with this disease.
D000230:Adenocarcinoma / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D000798:Angiomatosis / Q000000981:diagnostic imaging*; D002277:Carcinoma / Q000000981:diagnostic imaging; D002528:Cerebellar Neoplasms / Q000000981:diagnostic imaging; D002648:Child; D005134:Eye Neoplasms / Q000000981:diagnostic imaging; D005260:Female; D006391:Hemangioma / Q000000981:diagnostic imaging; D006394:Hemangiosarcoma / Q000000981:diagnostic imaging; D006801:Humans; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging; D011859:Radiography; D012164:Retinal Diseases / Q000000981:diagnostic imaging; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000000981:diagnostic imaging* / Q000235:genetics