Echenne B, Rivier F, Jellali A J, Azais M, Mornet D, Pons F
Service de Neuropédiatrie, Hôpital St. Eloi, Montpellier, France.
Neuromuscul Disord. 1997 May;7(3):187-90. doi: 10.1016/s0960-8966(97)00452-5.
A girl born from consanguineous Turkish parents had marked hypotonia from birth and delayed milestones. She was able to stand unaided by 3 years of age with then progressive worsening of motor abilities. She had a severe non-progressive mental deficiency. Epilepsy occurred by 6 years of age. Ophthalmological investigation was normal. A marked white matter high signal was seen on magnetic resonance imaging without cortical dysplasia. Dystrophic changes were seen on muscle biopsy. Two brothers had had a similar history with early death. Muscular immunocytochemical studies showed a normal staining for dystrophin and all dystrophin related glycoproteins (including 43 and 50 DAG). Merosin staining was normal. This case differs from Fukuyama's congenital dystrophy, from merosin negative congenital muscular dystrophy, or from other congenital muscular dystrophy with CNS dysfunction. It underlines the heterogeneity of congenital muscular dystrophy and the non-specific aspect of white matter changes on neuro-imaging.
一名土耳其近亲结婚夫妇所生的女孩自出生起就有明显的肌张力减退和发育迟缓。她3岁时能够独立站立，随后运动能力逐渐恶化。她有严重的非进行性智力缺陷。6岁时出现癫痫。眼科检查正常。磁共振成像显示有明显的白质高信号，无皮质发育异常。肌肉活检可见营养不良性改变。两个兄弟有类似病史并早年死亡。肌肉免疫细胞化学研究显示抗肌萎缩蛋白和所有抗肌萎缩蛋白相关糖蛋白（包括43和50 DAG）染色正常。merosin染色正常。该病例不同于福山型先天性肌营养不良、merosin阴性先天性肌营养不良或其他伴有中枢神经系统功能障碍的先天性肌营养不良。它强调了先天性肌营养不良的异质性以及神经影像学上白质改变的非特异性。
