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目的:探讨先天性肌纤维类型不均(CFTD)的临床表现和病理特点。方法:回顾复旦大学附属华山医院神经科收治的1例CFTD患者的临床表现和肌肉病理改变,并结合国外文献报道的3组共21例病例进行分析比较。结果:21例CFTD患者中,男11例,女10例。平均发病年龄为2.84岁,约28.6%的患者有家族史。除四肢无力及肌张力低下外,伴面肌无力者42.9%,喂养困难者19.0%,呼吸肌受累者38.1%,约1/3患者有高腭穹、脊柱侧凸、关节挛缩等骨骼畸形,所有病例认知功能均正常。约71.43%的患者病情稳定,28.6%的患者病情缓慢加重。与文献报道比较,本文所报道的病例临床表现具有肌无力和肌萎缩进展缓慢,而呼吸肌和骨骼不受累等肌营养不良样的特点。结论:CFTD作为先天性肌病的一种,可有肌营养不良样的临床表现,明确诊断有赖于肌肉活检。
Objective: To investigate the clinical manifestations and pathological features of inhomogeneous types of muscle fibers (CFTD). Methods: The clinical manifestations and muscle pathological changes of one case of CFTD admitted to Department of Neurology, Huashan Hospital, Fudan University were retrospectively analyzed and compared with 21 cases reported in foreign literature. Results: Of the 21 CFTD patients, 11 were males and 10 were females. The average age of onset was 2.84 years, about 28.6% of patients had a family history. In addition to weakness and low muscle tension, 42.9% of patients with facial weakness, 19.0% of feeding difficulties, 38.1% of respiratory muscle involvement, about 1/3 of patients with high palatal dome, scoliosis, joint contracture and other skeletal deformities, All cases of cognitive function are normal. About 71.43% of patients in stable condition, 28.6% of patients slowly aggravated. Compared with those reported in the literature, the clinical manifestations reported in this paper are characterized by myasthenia gravis and muscular atrophy, but not muscular dystrophy. Conclusion: As a kind of congenital myopathy, CFTD may have the clinical manifestations of muscular dystrophy, and the definite diagnosis depends on the muscle biopsy.