| A Case of Werdnig-Hoffmaiui Disease |
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J.K. Seo1, S.H. Kim1, and Y.J Kwon2, S.O Kim2, Y. I. Kim3 |
1Department of Pediatrics, College of Medicine Seoul National University
2Department of Pediatrics, National Police Hospital
3Department of Pathology, College of Medicine, Seoul National University |
| Werdnig-Hoffmann 病1 例 |
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서정기1, 김상협1, 권영조2, 김순옥2, 김용일3 |
1서울대학교 의과대학 소아과학교실
2경찰병원 소아과
3서울대학교 의과대학 병리학교실 |
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| Abstract |
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A 4 month old male infant with Werdnig Hoffmann disease was Presented. The infant was relatively healthy until 3 months of his age, when hypotonia, muscle weakness with flaccid paralysis were noted by his mother. Physical examination revealed hypotonia and weak crying with frog leg position. Fasciculations of tongue and high arched palate were found. Biopsy from right quadriceps muscle showed findings characteristic for Werdnig Hoffmann
disease. This infant died at 5 months old of his age because of pneumonia.
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