A Case of Fukuyama type Congenital Muscular Dystrophy |
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Abstract |
Fukuyama congenital muscular dystrophy(FCMD) is an autosomal recessive inherited congenital muscular dystrophy with severe mental retardation from cerebral cortical dysgenesis. FCMD is endemic to Japan and is rarely observed in other countries. A 4-month-old male infant was admitted to our hospital due to hypotonia, feeding difficulty and developmental delay since birth. His elder brother also had generalized weakness and mental retardation and then died at age of 10 years. Investigations showed normal nerve conduction, myopathic EMG and dystrophic changes on muscle biopsy. Brain MRI scan revealed T2-weighted prolongation of white matter, cortical thickening, heterotopia, polymicrogyria and multiple cerebellar cysts. With this case of FCMD we reviewed the recent articles and discussed about the differential points from other similar congenital muscular dystrophies. |
Key Words:
Fukuyama congenital muscular dystrophy, Floppy infant, Cortical dysplasia |
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