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目的总结几种常见类型先天性肌病大腿肌肉MRI的改变规律,评价其诊断价值。方法选取通过肌肉病理检查确诊的先天性肌肉病患者12例,包括杆状体肌病5例、轴空病4例、中央核肌病3例,其中男性9例,女性3例,平均年龄(19.6±10.1)岁,平均病程(14.1±11.7)年,3例患者家系内有类似发病者。所有患者行大腿骨骼肌MRI检查,行T1WI序列观察骨骼肌脂肪化,行STIR序列观察骨骼肌水肿情况,对大腿12块肌肉脂肪化和水肿程度进行6级评分。结果先天性肌病患者大腿不同肌肉脂肪化评分平均在(1.75±1.09)分到(3.67±0.85)分之间,大腿肌肉平均脂肪化总分分别为中央核肌病(41.00±11.34)分,多发微小轴空病(31.25±4.32)分,杆状体肌病(22.8±3.71)分,且不同类型先天性肌病肌肉脂肪化分布形式存在差异。9例出现大腿肌肉萎缩,其中5例为弥漫性萎缩,4例为后群及内侧群肌肉萎缩。所有患者均不存在肌肉肥大。3例皮下筋膜水肿,1例股四头肌水肿。结论不同类型先天性肌病脂肪化及萎缩程度存在明显差异。大腿肌肉无肥大是其共同特点。
Objective To summarize the changes of MRI of thigh muscles of several common types of congenital myopathies and evaluate its diagnostic value. Methods Twelve cases of congenital muscular disease diagnosed by muscle pathology were selected, including 5 cases of myotubesomyosis, 4 cases of axial disease and 3 cases of central nuclear myopathy. There were 9 males and 3 females, mean age ( 19.6 ± 10.1) years of age, the average duration of disease (14.1 ± 11.7) years, 3 patients with similar incidence of family members. All patients underwent MRI examination of thigh skeletal muscle. T1WI sequence was used to observe the skeletal muscle fatty acid. The STIR sequence was used to observe the skeletal muscle edema. The severity of fatty muscle and edema in 12 thigh muscles were evaluated by 6-grade scale. Results The average score of thigh muscle fatification was (1.75 ± 1.09) to (3.67 ± 0.85) points in patients with congenital myopathy, and the average score of thigh muscles was 41.00 ± 11.34, There were multiple minor axis-of-axis disease (31.25 ± 4.32) points, myotubes myopathy (22.8 ± 3.71) points, and different types of congenital myopathies muscle fatty distribution there are differences. Nine cases of thigh muscle atrophy, of which 5 cases of diffuse atrophy, 4 cases of medial and posterior group muscle atrophy. None of the patients had muscle hypertrophy. 3 cases of subcutaneous fascia edema, 1 case of quadriceps edema. Conclusion There are significant differences in the degree of atrophy and atrophy of different types of congenital myopathies. Thigh muscle hypertrophy is their common characteristics.