All issues > Volume 32(3); 1989

Original Article

J Korean Pediatr Soc. 1989;32(3):402-411. Published online March 31, 1989.

A Case of Type A Niemann-Pick Disease.

Young Bong Moon¹, Yang Bin Im¹, Dong Hwan Lee¹, Sang Jhoo Lee¹, In Sook Kim², Tae Jung Kwon², Dong Wha Lee²

¹Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
²Department of Pathology , College of Medicine, Soon Chun Hyang University, Seoul, Korea

Received: August 16, 1988;  Accepted: September 28, 1988.

Abstract

We experienced a case of type A Niemann-Pick disease in 31 month-old female infant. She showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Autopsy finding revealed that Iiver, spleen, lung, kidney, bone marrow, lymph node and brain were involved. Especially multiple ischemic necrosis were found on cerebral and cerebellar white matter. Generalized muscular atrophy and reticular infiltrations in chest x.ray were seen.

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