A 3 year old child develops headaches and is brought to the family doctor. Funduscopic examination reveals papilledema; one retina also shows a very vascular tumor. CT of the head demonstrates a cystic tumor of the cerebellum. This child has a high likelihood of later developing which of the following?
The disease is von Hippel-Landau disease, which is associated with a deletion involving the VHL gene on chromosome 3 (3p). Affected individuals develop vascular tumors (hemangioblastomas) of the retina, cerebellum, and/or medulla. Roughly half of the affected individuals later develop multiple, bilateral renal cell carcinomas. Berry aneurysms are unrelated to hemangioblastomas, but are instead associated with adult polycystic disease. Peripheral nerve cancers are a feature of von Recklinghausen's disease (neurofibromatosis type I). Choreiform movements, related to decreased GABA and acetylcholine, are a feature of Huntington's disease. Ref: Wyatt C., Butterwoh IV J.F., Moos P.J., Mackey D.C., Brown T.G. (2008). Chapter 6. Genetic Disorders. In C. Wyatt, J.F. Butterwoh IV, P.J. Moos, D.C. Mackey, T.G. Brown (Eds), Pathology: The Big Picture.
Berry aneurysm of the basilar system
Bilateral renal cell carcinoma
Cancer of a peripheral nerve
Choreiform movements related to decreased GABA and acetylcholine