1.
Journal of the Korean Pediatric Society
;
: 275-280, 1998.
Artículo
en Coreano
| WPRIM
| ID: wpr-155485
RESUMEN
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.
Asunto(s)
Humanos , Lactante , Masculino , Autopsia , Médula Ósea , Encéfalo , Disnea , Células Espumosas , Hígado , Pulmón , Ganglios Linfáticos , Sistema Mononuclear Fagocítico , Enfermedad de Niemann-Pick Tipo A , Enfermedades de Niemann-Pick , Prunus , Bazo , Tórax
2.
Journal of the Korean Pediatric Society
;
: 402-411, 1989.
Artículo
en Coreano
| WPRIM
| ID: wpr-83606
3.
Journal of the Korean Pediatric Society
;
: 1461-1467, 1987.
Artículo
en Coreano
| WPRIM
| ID: wpr-173221