All issues > Volume 41(2); 1998

Case Report

J Korean Pediatr Soc. 1998;41(2):275-280. Published online February 15, 1998.

A Case of Type A Niemann-Pick Disease

Eun Young EY Jeon¹, Kyung Ah KA Choi¹, Chul Hoe CH Koo¹, Wha Mo WM Lee¹, Young Suk YS Jeon¹, Chang Hun CH Lee², Kang Suek KS Suh², Sun Kyeung SK Lee²

¹Department of Pediatrics, Pusan Medical Center, Pusan, Korea
²Department of Pathology, College of Medicine, Pusan National University, Pusan, Korea

Correspondence Eun Young EY Jeon ,Email: 1

Abstract

Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed that liver, spleen, lung, lymph node and brain were involved. Reticular infiltration was shown on chest X-ray. We reported a case of type A Niemann-Pick disease with a brief review of the related literature.

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