摘要
目的 分析 4例阳性家族史的婴儿型脊肌萎缩症患儿临床病理表现 ,探讨本病的临床病理特点及早期诊断要点。方法 回顾分析 4例经病理学检查证实的婴儿型脊肌萎缩症患儿的临床资料及病理学改变。结果 患儿多在 1岁内起病 ,呈进行性弛缓性对称性四肢瘫痪 ,以下肢、近端明显 ,血清 CPK、L DH正常。肌电图为失神经性支配。肌活检呈神经性肌萎缩 ,常累及整个肌束。本组患儿 3例死亡 ,1例瘫痪。结论 确诊本病应结合临床特点、肌电图表现及神经肌肉活检改变等 ,这些在鉴别诊断中有重要价值 ,为进一步基因检测研究奠定了基础。
Objective To investigate the infantile spinal muscular atrophy (SMA-I) through the clinical features and pathology to explore the diagnostic methods of it. Methods Systemic study on the clinical manifestations,electromyography,neurological and muscular biopsy was performed. Results SMA I (Wedding Hoffmann Disease) onset acutely between birth and 1 year old with normal CPK levels. Progressed proximal weakness especially involved lower limbs. EMG showed neurogenic changes. Muscle biopsy had a feature of denervation and a little of renervation with muscular atrophy. Focal atrophic II type fibers distributed among normal fibers. SMA I had a bad prognosis and no definite specific therapy. Conclusion EMG and muscle biopsy findings are important because they can help to establish the diagnosis and classification of the chronic SMA and confirm the suitable cases for gene diagnosis.
出处
《中风与神经疾病杂志》
CAS
CSCD
北大核心
2002年第3期162-164,共3页
Journal of Apoplexy and Nervous Diseases
