J Korean Pediatr Soc.  1998 Feb;41(2):275-280.

A Case of Type A Niemann-Pick Disease

Affiliations
  • 1Department of Pediatrics, Pusan Medical Center, Pusan, Korea.
  • 2Department of Pathology, College of Medicine, Pusan National University, Pusan, Korea.

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.

Keyword

Niemann-Pick disease; Hepatosplenomegaly; Cherry red spot; Foam cell

MeSH Terms

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
Full Text Links
  • KJP
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
    DB Error: unknown error