| A Case of Type A Niemann Pick Disease. |
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Hyo Nam Cho1, Hong Jin Lee1, Jae Won Song1, Jung Hwan Choi1, Hyung Ro Moon1, Je Geun Ji2, Myeong Hee Park3 |
1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
2Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea
3Department of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea |
| A형 (유아형 ) Niemann Pick 씨 병 1 례 |
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조효남1, 이홍진1, 송재원1, 최중환1, 문형로1, 지제근2, 박명희3 |
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 병리학교실
3서울대학교 의과대학 임상병리학교실 |
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| Abstract |
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We experienced a case of type A Niemann Pick disease in 13 month female baby. She showed
marked hepatosplenomegaly, developmental regression and apathy. Fundoscopic examination
revealed a cherry red spot in the macula. Numerous foamy histiocyte were seen in bone marrow.
Autopsy finding revealed that liver, spleen, thymus, lymph node, lung and brain were involved. Liver
showed fatty change. Generalized muscular atrophy and patch pneumonia were combined.
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| Key Words:
Niemann Pick disease, Hepatosplenomegaly, Cherry red spot, Foamy histiocyte
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