All issues > Volume 49(12); 2006

Case Report

Korean J Pediatr. 2006;49(12):1358-1362. Published online December 15, 2006.

A case of Niemann-Pick disease type A

Ho Yen HY Yu¹, Ji Eun JE Oh¹, Jae Sun JS Park¹, Mi Hyang MH Kim², Sin Dong SD Kim³, Kyung Soon KS 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

Correspondence Jae Sun JS 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.

Keywords :Niemann-Pick disease , Hepatosplenomegaly , Cherry red spot, Foam cell