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

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.