1.
Journal of the Korean Pediatric Society
;
: 275-280, 1998.
Article
in Korean
| WPRIM
| ID: wpr-155485
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.
Subject(s)
Humans , Infant , Male , Autopsy , Bone Marrow , Brain , Dyspnea , Foam Cells , Liver , Lung , Lymph Nodes , Mononuclear Phagocyte System , Niemann-Pick Disease, Type A , Niemann-Pick Diseases , Prunus , Spleen , Thorax
2.
Journal of the Korean Pediatric Society
;
: 402-411, 1989.
Article
in Korean
| WPRIM
| ID: wpr-83606
3.
Journal of the Korean Pediatric Society
;
: 1461-1467, 1987.
Article
in Korean
| WPRIM
| ID: wpr-173221