| A Case of Fukuyama Type Congenital Muscular Dystrophy |
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Young Eun Lee1, Min Hyea Kim1, Keun Lee1, Eun Chul Chung2, Hyea Soo Koo3 |
1Department of Pediatrics, Wwha Women`s University College of Medicine, Seoul, Korea
2Department of Radiology, Wwha Women`s University College of Medicine, Seoul, Korea
3Department of Pathology, Wwha Women`s University College of Medicine, Seoul, Korea |
| Fukuyama Type의 선천성 근 이양증 1례 |
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이영은1, 김민혜1, 이근1, 정은철2, 구혜수3 |
1이화여자대학교 의과대학 소아과학교실
2이화여자대학교 의과대학 방사선과학교실
3이화여자대학교 의과대학 병리학과교실 |
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| Abstract |
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Fukuyama type congenital muscular dystrophy is characterized by mental retardation, progressive muscle weakness and hypotonia, joint contracture and seizures in half of the reported cases. The usual CT abnormalities are dilated cerebral ventricles and Sylvian fissures and lucency of cortical white matter. The most consistent pathologic findings in the brain are polymicrogyria and pachygyria, caused by a disturbance of migration occurring between the fourth and fifth gestational month.
We have experienced a case of FCMD in a 14 month old boy who had generalized delayed development, hypotonia, pachygyria, polymicrogyria and dystrophic abnormalities in the muscle biopsy. A brief review of literature was made. |
| Key Words:
Fukuyama type congenital muscle dystrophy, Mental retardation, Polymicrogyria and pachygyria, Progressive muscular dystrophy |
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