J Genet Med.  2007 Dec;4(2):200-203.

Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

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.

Keyword

Niemann-Pick type C; neonatal cholestasis; hepatosplenomegaly; NPC1 mutation
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