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KMID : 0387519960060010207
Journal of Maryknoll Hospital
1996 Volume.6 No. 1 p.207 ~ p.214
A Case of a family with Von Hippel-Lindau Disease
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Abstract
Von Hipple-Lindau disease is a rare hereditary disorder in which affected individuals are genetically predisposed to develop certain types of tumors and cysts in multiple organs characterized by CNS hemangioblastomas, retinal angiomas, renal cell
carcinomas, pheochrmocytomas, and visceral cysts.
A 21-year-old an visited to our hospital due to pulsating headache, diplopia, and intractable hiccup. On his family history, his elder brother and father had been diagnosed as having cerebellar hemangioblastomas.
Her suffered from cerebellar and cervical spinal cord hemangioblastomas and multiple cysts in liver, pancreas, epididymis, and both kidneys documented by brain and C-spine MR, vertebral angiography, and abdominal ultrasonography and CT. The
findings of
clinical and radiologic evaluations are compatible with von Hipple-Lindau disease.
With reviewing of some literatures, we present a case of a family with von Hippel-Lindau disease.
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