Talim B, Ferreiro A, Cormand B, Vignier N, Oto A, Göğüş S, Cila A, Lehesjoki A E, Pihko H, Guicheney P, Topaloğlu H
Department of Pediatric Pathology, Hacettepe Children's Hospital, Ankara, Turkey.
Neuromuscul Disord. 2000 Dec;10(8):548-52. doi: 10.1016/s0960-8966(00)00140-1.
We report a case of congenital muscular dystrophy with secondary merosin deficiency, structural involvement of the central nervous system and mental retardation in an 8-year-old girl from a consanguineous family. She had early-onset hypotonia, generalized muscle wasting, with weakness especially of the neck muscles, joint contractures, mental retardation and high creatine kinase. Muscle biopsy showed dystrophic changes with partial deficiency of the laminin alpha(2) chain. Cranial magnetic resonance imaging revealed multiple small cysts in the cerebellum, without cerebral cortical dysplasia or white matter changes. The laminin alpha(2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis. We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy.
我们报告了一例来自近亲家庭的8岁女孩，患有先天性肌营养不良伴继发性merosin缺乏、中枢神经系统结构受累及智力发育迟缓。她有早发性肌张力减退、全身肌肉萎缩，尤其颈部肌肉无力、关节挛缩、智力发育迟缓及肌酸激酶升高。肌肉活检显示有营养不良性改变，伴层粘连蛋白α(2)链部分缺乏。头颅磁共振成像显示小脑有多个小囊肿，无大脑皮质发育异常或白质改变。通过连锁分析排除了层粘连蛋白α(2)链（6q2）、福山型先天性肌营养不良（9q31 - q33）和肌肉 - 眼 - 脑疾病（1p32 - p34）基因座。我们认为该病例代表了先天性肌营养不良分类学中的一个新病种。
