Journal of the Korean Pediatric Society 1989;32(3):402-411.
Published online March 31, 1989.
A Case of Type A Niemann-Pick Disease.
Young Bong Moon1, Yang Bin Im1, Dong Hwan Lee1, Sang Jhoo Lee1, In Sook Kim2, Tae Jung Kwon2, Dong Wha Lee2
1Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
2Department of Pathology , College of Medicine, Soon Chun Hyang University, Seoul, Korea
A형 Niemann -Pick병 1례
문영봉1, 임양빈1, 이동환1, 이상주1, 김인숙2, 권태정2, 이동화2
1순천향의대 의학부 소아과학교실
2순천향의대 의학부 병리학교실
Received: 16 August 1988   • Accepted: 28 September 1988
Abstract
We experienced a case of type A Niemann-Pick disease in 31 month-old female infant. She showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Autopsy finding revealed that Iiver, spleen, lung, kidney, bone marrow, lymph node and brain were involved. Especially multiple ischemic necrosis were found on cerebral and cerebellar white matter. Generalized muscular atrophy and reticular infiltrations in chest x.ray were seen.
Key Words: Niemann-Pick disease, Cherry red spot, Hepatosplenomegaly




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