Korematsu S, Kobayashi O, Fukushima N, Sawaguchi H, Ishihara T, Izumi T, Ogawa T, Nonaka I
Department of Pediatrics, Oita Medical University.
No To Hattatsu. 1995 Jul;27(4):309-14.
A patient with non-Fukuyama type merosin-positive congenital muscular dystrophy (nonFCMD) who had severe muscle weakness leading to early death was reported. He was the first product of epileptic mother who had been placed on phenobarbital and phenytoin. The patient had severe respiratory failure and muscle weakness at the neonatal period, and died at 4 months of age. Multiple joint contractures were also noted at birth. Serum creatine kinase was within normal limits (123 IU/l). Electromyography showed a myogenic pattern. Brain computed tomographic (CT) scan and magnetic resonance imaging (MRI) were normal without white matter lucency or pachygyria. Muscle biopsy revealed dystrophic changes and type 2C fiber predominance. Dystrophin, dystrophin-associated glycoproteins and merosin were all positively demonstrated. Although patients with merosin-positive nonFCMD have relatively mild clinical course, our patient had severe muscle weakness with fatal outcome. Defect in muscle fiber maturation and differentiation, such as an increase of undifferentiated type 2C fibers, may be a major factor to influence muscle symptoms in non FCMD.
报道了一名患有非福山型肌纤蛋白阳性先天性肌营养不良（nonFCMD）的患者，该患者因严重肌无力导致早期死亡。他是一名癫痫母亲的头胎，其母亲曾服用苯巴比妥和苯妥英钠。该患者在新生儿期即出现严重呼吸衰竭和肌无力，并于4个月大时死亡。出生时还发现有多处关节挛缩。血清肌酸激酶在正常范围内（123 IU/l）。肌电图显示为肌源性模式。脑部计算机断层扫描（CT）和磁共振成像（MRI）均正常，无白质透亮或巨脑回。肌肉活检显示有营养不良性改变且2C型纤维占优势。抗肌萎缩蛋白、抗肌萎缩蛋白相关糖蛋白和肌纤蛋白均呈阳性表达。尽管肌纤蛋白阳性的nonFCMD患者临床病程相对较轻，但我们的这名患者却出现了严重肌无力并导致致命后果。肌纤维成熟和分化缺陷，如未分化的2C型纤维增加，可能是影响nonFCMD肌肉症状的主要因素。
