All issues > Volume 30(12); 1987

Original Article

J Korean Pediatr Soc. 1987;30(12):1461-1467. Published online December 31, 1987.

A Case of Type A Niemann Pick Disease.

Hyo Nam Cho¹, Hong Jin Lee¹, Jae Won Song¹, Jung Hwan Choi¹, Hyung Ro Moon¹, Je Geun Ji², Myeong Hee Park³

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
²Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea
³Department of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea

Abstract

We experienced a case of type A Niemann Pick disease in 13 month female baby. She showed marked hepatosplenomegaly, developmental regression and apathy. Fundoscopic examination revealed a cherry red spot in the macula. Numerous foamy histiocyte were seen in bone marrow. Autopsy finding revealed that liver, spleen, thymus, lymph node, lung and brain were involved. Liver showed fatty change. Generalized muscular atrophy and patch pneumonia were combined.

Keywords :Niemann Pick disease; Hepatosplenomegaly; Cherry red spot, Foamy histiocyte