Yamashita Y, Ohtaka E, Matsuishi T, Osari S, Kobayashi O, Nonaka I
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Brain Dev. 1996 Mar-Apr;18(2):131-4. doi: 10.1016/0387-7604(95)00140-9.
We report a female infant with non-Fukuyama-type congenital muscular dystrophy with merosin deficiency. She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine kinase concentration. Her motor developmental milestones were markedly delayed; however, her intellectual development was normal. Although cranial computed tomography (CT) at 3 months of age was normal, subsequent CT at 16 months of age demonstrated diffuse, abnormal white matter lucencies. Muscle biopsy findings at 16 months of age were compatible with those of congenital muscular dystrophy. In addition, no muscle fibers were immunostained by the merosin antibody. The patient died of pneumonia at 23 months of age. These clinical symptoms and CT findings are similar to those described in patients with merosin-negative congenital muscular dystrophy in European countries.
我们报告了一名患有无福岛型先天性肌营养不良伴肌纤蛋白缺乏的女婴。她自新生儿期起就表现出明显的肌张力减退和肌肉无力，肌酸激酶浓度升高。她的运动发育里程碑明显延迟；然而，她的智力发育正常。尽管3个月大时的头颅计算机断层扫描（CT）正常，但16个月大时的后续CT显示弥漫性异常白质透亮区。16个月大时的肌肉活检结果与先天性肌营养不良相符。此外，肌纤蛋白抗体未对任何肌纤维进行免疫染色。该患者于23个月大时死于肺炎。这些临床症状和CT表现与欧洲国家肌纤蛋白阴性先天性肌营养不良患者所描述的相似。
