紀要論文 〈Case Reports〉A boy with multi-minicore disease, a rare case of congenital myopathy in childhood

Yanagida, Hidehiko  ,  Takemura, Tsukasa

内容記述
[Abstract] We encountered a boy with multi-minicore disease showing marked funnel chest deformity. Inspiratory retraction accompanied by hypotonic muscle led to the discovery of his disease. A definite diagnosis was made by muscle histologic evaluation characterized by excessive variation in the fiber size within muscle fascicles as well as some centronuclear fibers in addition to specific staining methods for muscle fibers.This type of congenital myopathy is rare in childhoods; thus, it may sometimes be misdiagnosed as congenital cerebral palsy on a simple physical check. Therefore, muscle biopsy is important for the accurate diagnosis of this disease.
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