Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly.
- Author:
Min Hee JEONG
1
;
Jung Min KO
;
Gu Hwan KIM
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Niemann-Pick type C;
neonatal cholestasis;
hepatosplenomegaly;
NPC1 mutation
- MeSH:
Acid Phosphatase;
Biopsy;
Bone Marrow;
Cholestasis*;
Cholesterol;
Diagnosis*;
Female;
Histiocytes;
Humans;
Infant;
Jaundice;
Metabolism;
Niemann-Pick Diseases;
Peptidyl-Dipeptidase A;
Physical Examination
- From:Journal of Genetic Medicine
2007;4(2):200-203
- CountryRepublic of Korea
- Language:Korean
-
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.
