A Case of Type A Niemann-Pick Disease
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Mononuclear Phagocyte System
/
Autopsy
/
Spleen
/
Thorax
/
Bone Marrow
/
Brain
/
Niemann-Pick Diseases
/
Prunus
/
Dyspnea
/
Niemann-Pick Disease, Type A
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1998
Type:
Article
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