线状体肌病的临床及超微病理学特征(附1例报道)

Clinical and ultra-structural pathological characterization of a case of nemaline myopathy

目的探讨线状体肌病的临床特点、病理学特征。方法结合近3年国外文献复习,分析1例线状体肌病患者的临床特点和超微病理学特征。结果患者3岁发病,症状逐渐加重,病程逾20年,表现为典型的肌张力减低和肢体无力,症状以双下肢为主,近端和远端同时受累,伸肌为著,远端为甚,肌萎缩明显;病理检查发现线状小体、肌膜皱缩、肌纤维断裂,α和β颗粒以及一小块变性的神经纤维束。结论线状体肌病可累及全身骨骼肌,临床表现为肌张力减低和肌无力,病理学特征为线状小体。

Objective To explore the clinical and pathological features of nemaline myopathy（NM）.Methods The analysis of the clinical characteristics and ultromicro pathological features of a NM patient was reported and the papers in the literature during past 3 years were reviewed.Results The patient had muscle weakness at the age of 3 years.In the past 20 years,hypotonia and muscle weakness were progressive.Hypotonia and muscle weakness predominantly affected the extensor muscles of the lower limbs,more pronounced in distal muscles.There was pronounced atrophy of skeletal muscle.Electron microscopy revealed the presence of nemaline bodies,membrane wrinkling,myofiber splitting,and the appearance of alpha and beta particle.There was occasional degeneration of neuronal fiber.Conclusions NM is clinically characterized by hypotonia and muscle weakness.The nemaline body is the pathological hallmark of this disorder.