Hippel-Lindau Disease
| Definition: |
An autosomal dominant disorder associated with various neoplasms including central nervous system (most often cerebellar) and retinal HEMANGIOBLASTOMA, endolymphatic sac tumors, renal cell carcinoma (see CARCINOMA, RENAL CELL), renal and pancreatic cysts, HEMANGIOMA of the spinal cord, and PHEOCHROMOCYTOMA. The most common presenting manifestations are neurologic deficits associated with intracranial hemangioblastomas which may HEMORRHAGE, causing ataxia, INTRACRANIAL HYPERTENSION, and other signs of neurologic dysfunction. (From Neurochirurgie 1998 Nov;44(4):258-66) |
Hippel-Lindau Disease Definitions and Terms
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