Korean Journal of Pediatrics 2006;49(12):1358-1362.
Published online December 15, 2006.
A case of Niemann-Pick disease type A
Ho Yen Yu1, Ji Eun Oh1, Jae Sun Park1, Mi Hyang Kim2, Sin Dong Kim3, Kyung Soon Jung4
1Departments of Pediatrics, College of Medicine Kosin University, Busan, Korea
2Departments of Laboratory Medicine College of Medicine Kosin University, Busan, Korea
3Departments of Ophthalmology, College of Medicine Kosin University, Busan, Korea
4Departments of Radiology, College of Medicine Kosin University, Busan, Korea
A형 Niemann-Pick 병 1례
유호연1, 오지은1, 박재선1, 김미향2, 김신동3, 정경순4
1고신대학교 의과대학 소아과학교실
2고신대학교 의과대학 진단검사의학과교실
3고신대학교 의과대학 안과학교실
4고신대학교 의과대학 영상의학과교실
Correspondence: 
Jae Sun Park, Email: pjs@ns.kosinmed.or.kr
Abstract
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.
Key Words: Niemann-Pick disease , Hepatosplenomegaly , Cherry red spot, Foam cell


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