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A case of Niemann-Pick disease type A  

Yu, Ho Yen (Department of Pediatrics, College of Medicine Kosin University)
Oh, Ji Eun (Department of Pediatrics, College of Medicine Kosin University)
Park, Jae Sun (Department of Pediatrics, College of Medicine Kosin University)
Kim, Mi Hyang (Department of Laboratory Medicine, College of Medicine Kosin University)
Kim, Sin Dong (Department of Ophthalmology, College of Medicine Kosin University)
Jung, Kyung Soon (Department of Radiology, College of Medicine Kosin University)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.12, 2006 , pp. 1358-1362 More about this Journal
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.
Keywords
Niemann-Pick disease; Hepatosplenomegaly; Cherry red spot; Foam cell;
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Times Cited By KSCI : 1  (Citation Analysis)
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