| A Case of Niemann Pick Disease. |
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Sung Hwan Kim, Young Joo Choi, In Ho Kim, Sang Woo Kim |
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Dept, of Pediatrics, Seoul Paik Hospital, In Je Medical College |
| Niemann Pick 병 1례 |
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김성환, 최영주, 김인호, 김상우 |
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인제의과대학부속 서울백병원 소아과학교실 |
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| Abstract |
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Author reported a case of Niemann Pick disease in a 9 month old Korean male infant.
The patient showed marked, hepatosplenomegaly and delayed motor developement which was
started since 5 months of age. His elder sister, who showed the same clinical manifestations,
died at 1 year of age without apparent cause.
Peripheral blood smear showed many unusual lymphocytes and monocytes which contain
numerous intracytoplasmic vacuoles. Fundoscopic examination revealed cherry red spot in the
both macular area of retina. Numerous foamy histiocytes were seen in the bone marrow spe-
cimen. Specimen of liver biopsy showed the fatty infiltration without histiocytic infiltration.
During the follow-up for 9 months, he progressively became to be a vegetable state without
voluntary motor activities and he could not able to see and hear. Finally lie was diagnosed
as infantile Niemann Pick disease.
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| Key Words:
Niemann Pick Disease, Cherry Red Spot, Foamy Histiocyte. |
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