Oliveira A S, Gabbai A A, Kiyomoto B H, Schmidt B
Disciplina de Neurologia da Escola Paulista de Medicina, São Paulo.
Rev Paul Med. 1990 May-Jun;108(3):139-41.
Twelve patients with congenital muscular dystrophy (CMD) diagnosed by clinical and laboratorial criteria were submitted to CT scanning. Eight patients presented diffuse bilateral hypodensity of the white matter with predominance in the frontal lobes. These findings are indicative that CNS involvement in CMD is not confined to the Japanese population. Such involvement strongly suggests that the disease is transmitted by an autosomal recessive polymorphic gene responsible for the involvement of both CNS and skeletal muscle.
根据临床和实验室标准诊断为先天性肌营养不良(CMD)的12名患者接受了CT扫描。8名患者表现为双侧弥漫性白质低密度,额叶为主。这些发现表明CMD中枢神经系统受累并不局限于日本人群。这种受累强烈提示该疾病由一个常染色体隐性多态性基因传递,该基因导致中枢神经系统和骨骼肌均受累。