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KMID : 0882419930440010139
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Korean Journal of Medicine
1993 Volume.44 No. 1 p.139 ~ p.146
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One Case of von Hippel-Lindau Disease with Autosomal Dominant Inheritance
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김병욱
민준기/전두수/채현식/한석원/정인식/선의식/박영섭/최창락
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Abstract
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on Hippel-Lindau disease is a rare disorder with multipe organ involvement including
cerebellum, retina and visceral organs such as pancreas, kidney and epidydimis. Recently we
experienced a case of von Hippel-Lindau disease in a family confirmed by operation for
cerebellar tumor.
A 23-year-old girl was referred from a local clinic for frequent hiccups and pancreatic
cysts. Abdominal ultrasound and computed tomogram revealed varying sized
multiple pancreatic and renal cysts. Brain CT and MRI showed hypervascular cerebellar
tumor, but there was no evidence of retinal angioma on fundoscopy and no
pheochromocytoma on the laboratory findings and radiologic studies. Her chromosomal
study was normal. Her family members including her father and sister were also diagnosed
to have multiple pancreatic cysts by ultrasound, however no more studies were available.
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KEYWORD
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