| A Case of Type A Niemann-Pick Disease |
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Eun Young Jeon1, Kyung Ah Choi1, Chul Hoe Koo1, Wha Mo Lee1, Young Suk Jeon1, Chang Hun Lee2, Kang Suek Suh2, Sun Kyeung Lee2 |
1Department of Pediatrics, Pusan Medical Center, Pusan, Korea
2Department of Pathology, College of Medicine, Pusan National University, Pusan, Korea |
| A형 Niemann-Pick병 1예 |
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전은영1, 최경아1, 구철회1, 이화모1, 전영석1, 이창훈2, 서강석2, 이선경2 |
1부산의료원 소아과
2부산대학교 의과대학 병리학교실 |
Correspondence:
Eun Young Jeon, Email: 1
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| Abstract |
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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. |
| Key Words:
Niemann-Pick disease, Hepatosplenomegaly, Cherry red spot, Foam cell |
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