福山型先天性筋ジストロフィーにおける脳幹,小脳の形態に関する放射線学的研究

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Fukuyama type congenital muscular dystrophy (FCMD), the second most common progressive muscular dystrophy (PMD) in Japan, is rarely described outside of Japan. It is an autosomal recessive disorder characterized by congenital progressive muscular dystrophy (CMD) with facial muscle involvement and central nervous system dysgenesis. The brain shows cortical dysplasia including mixed pachygyric-micropolygyria in the cerebrum and cerebellum, hemispheric fusion, hypoplastic pyramidal tracts and mild to moderate ventricular dilatation. The lesions represent abnormal neuronal cell migration at the cortical surface covered with glio-mesenchymal tissue. The intra vitam recognition of brain malformation has been remarkably enhanced by the advent of noninvasive neuroimaging techniques such as MRI. In this study, we measured the size of the brain stem and cerebellum in 62 MRIs of the brain that carried out on 35 patients with FCMD and 77 MRIs of healthy children as normal controls using the graphic analysing system, NIH image. And the correlation between the data and clinical disabilities was also evaluated. The measurement data increase with age both of FCMD cases and normal control. In FCMD cases, the area and width of the midbrain, pons and upper part of the cerebeller vermis were narrow in comparison with the normal controls. The correlation with the area of the brain stem and the level of peak motor function or the speech ability was found. In the heterozygote FCMD ancestral haplo-type, clinically severe cases, the size of brain stem are smaller than those of homozygote. The size of brain stem and cerebellum in FCMD were found to increase with age and to be smaller than normal control, objectively by this study.
東京女子医科大学の論文
1998-10-25

福山型先天性筋ジストロフィーにおける脳幹,小脳の形態に関する放射線学的研究

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