A Case of Type A Niemann-Pick Disease.
- Author:
Eun Young JEON
1
;
Kyung Ah CHOI
;
Chul Hoe KOO
;
Wha Mo LEE
;
Young Suk JEON
;
Chang Hun LEE
;
Kang Suek SUH
;
Sun Kyeung LEE
Author Information
1. Department of Pediatrics, Pusan Medical Center, Pusan, Korea.
- Publication Type:Case Report
- Keywords:
Niemann-Pick disease;
Hepatosplenomegaly;
Cherry red spot;
Foam cell
- MeSH:
Autopsy;
Bone Marrow;
Brain;
Dyspnea;
Foam Cells;
Humans;
Infant;
Liver;
Lung;
Lymph Nodes;
Male;
Mononuclear Phagocyte System;
Niemann-Pick Disease, Type A*;
Niemann-Pick Diseases;
Prunus;
Spleen;
Thorax
- From:Journal of the Korean Pediatric Society
1998;41(2):275-280
- CountryRepublic of Korea
- Language:Korean
-
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.
