摘要
目的:探讨先天性肌营养不良1A型的临床和病理特点。方法:回顾分析我院收治的1例先天性肌营养不良1A型轻症患者的临床表现和肌肉病理改变,并结合复习国内文献报道的5例病例。结果:患者均于出生后6个月内起病,多表现为新生儿肌张力低下,出生1年后头颅MRI均有特征性的白质改变,部分病例伴有关节挛缩、智能发育迟缓、癫癎和周围神经损害。肌肉病理均呈典型肌营养不良改变,伴Merosin蛋白完全缺失。结论:头颅MRI是先天性肌营养不良1A型的重要诊断依据,肌肉免疫组化对确诊尤为关键。
Aim： To investigate the clinical and pathological features of muscular dystrophy congenital 1A （MDC1A）. Methods： We report a case diagnosed as MDC1A with a mild phenotype, and review 5 published Chinese cases to characterize the spectrum of their clinical features and pathological changes. Results： All cases were presented within the first 6 months of life with neonatal hypotonia or weakness. Brain magnetic resonance imaging （MRI） studies invariably show white matter changes after the age of 1 year. Contractures, mental retardation, epilepsy and peripheral nervous system involvement are reported in some patients. All the muscle biopsies reveal typical dystrophic changes with complete Merosin deficiency. Conclusion： Brain MRI represents a powerful tool in the study of MDC 1A. lmmunohistochemical study is essential to define the diagnosis.
出处
《中国临床神经科学》
2008年第5期504-508,共5页
Chinese Journal of Clinical Neurosciences
