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KMID : 1189120070040020200
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대한의학유전학회지
2007 Volume.4 No. 2 p.200 ~ p.203
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Niemann-Pick병 Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly
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Jeong Min-Hee
Ko Jung-Min
Kim Gu-Hwan
Yoo Han-Wook
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Abstract
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Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with Jaundice was presented cholestasis and hepatosplenomegaly. Laboratory study showed elevated acid phosphatase, angiotensin converting enzyme and mild decrease of cholesterol. Characteristic foamy cell and sea-blue histiocytes in bone marrow biopsy consistent with Niemann-Pick disease. Niemann-Pick type C was suspected by past medical history and findings of physical examination. Therefore, molecular analysis was performed and found mutations of NPC1 gene. We report the first Korean case of type C Niemann-Pick disease confirmed by mutation analysis.
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KEYWORD
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Niemann-Pick type C, neonatal cholestasis, hepatosplenomegaly, NPC1 mutation
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