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KMID : 0942820020010010067
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Journal of Korean Brain Tumor Society
2002 Volume.1 No. 1 p.67 ~ p.73
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Two Cases of von Hippel-Lindau Disease in a Family - Case Reprt -
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Kim Tae-Young
Park Jong-Tae
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Abstract
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von Hippel-Lindau disease(VHL) is a hereditary cancer syndrome caused by germline mutations of the VHL tumor suppressor gene, and manifested by hemangioblastomas in central nervous system, retinal angioma, cysts in liver, pancreas or kidney. Sometimes other systemic malignancies, such as renal cell carcinoma or pheochromocytoma, are associated. Major causes of death in VHL disease are associated with cerebellar hemangioblastoma or renal cell carcinoma. We have experienced two cases of VHL disease in a family. A son had multiple scattered hemangioblastomas in cerebellum, spinal cord, retinal angiomas and renal cyst. And his mother had a renal cell carcinoma in addition to a solid type hemangioblastoma in cerebellum. With a review of the literature, the authors present two cases of VHL disease in a family.
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KEYWORD
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von Hippel-Lindau disease, Hemangioblastoma, Retinal angioma, Renal cel carcinoma
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