A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit |
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Authors: | Hino-Fukuyo Naomi Haginoya Kazuhiro Hayashi Yukiko K Nishino Ichizo Murakami Terumi Nonaka Ikuya Togashi Kaoru Tanaka Souichiro Takayanagi Masaru Yokoyama Hiroyuki Sakamoto Osamu Abe Toshiaki Toda Tatsushi Iinuma Kazuie |
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Affiliation: | Department of Pediatrics, Tohoku University School of Medicine, Seiryo-machi 1-1, Sendai 980-8574, Japan. naomi-h@zc4.so-net.ne.jp |
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Abstract: | A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed. |
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