Sakr Hossam M, Fahmy Nagia, Elsayed Nermine S, Abdulhady Hala, El-Sobky Tamer A, Saadawy Amr M, Beroud Christophe, Udd Bjarne
Department of Diagnostic & Interventional Radiology and Molecular Imaging, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Department of Neuropsychiatry, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Neuromuscul Disord. 2021 Sep;31(9):814-823. doi: 10.1016/j.nmd.2021.06.012. Epub 2021 Jul 1.
Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. We intended to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. Eight of which were genetically-confirmed. We used a control group of other hereditary muscle diseases, which included 13 children (mean age was 13 SD +/- 5.5 years), (8 boys and 5 girls) for comparative analysis. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differs from that in control group. There was a statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, intercostal, rotator cuff, deltoid, triceps, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, the results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group, and specific texture abnormalities in other muscles. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of children with merosin deficient CMD. The presence of a fairly characteristic pattern of involvement was demonstrated. MRI findings should be interpreted in view of the clinical and molecular context to improve diagnostic accuracy.
缺乏层黏连蛋白或与LAMA2相关的先天性肌营养不良（CMD）属于一组诊断范围重叠的肌肉疾病。MRI在肌肉疾病的诊断和病情跟踪中起着重要作用。全身MRI对于描述肌肉受累模式非常理想。我们旨在通过全身肌肉MRI分析缺乏层黏连蛋白的CMD患儿的肌肉受累模式。10名缺乏层黏连蛋白的CMD患儿接受了全身肌肉MRI检查。其中8例经基因确诊。我们使用了一组其他遗传性肌肉疾病的对照组，其中包括13名儿童（平均年龄为13±5.5岁），（8名男孩和5名女孩）进行对比分析。总体而言，使用Fischer等人修改的Mercuri量表对37块肌肉的脂肪浸润进行分级。结果显示，指数组肌肉脂肪浸润模式相当一致，与对照组不同。两组在颈部、前锯肌、肋间肌、肩袖、三角肌、肱三头肌、前臂、臀大肌、臀中肌、腓肠肌和比目鱼肌的脂肪浸润方面存在统计学显著差异。此外，结果显示指数组中肱肌、肱二头肌、股薄肌、缝匠肌、半腱肌和踝关节伸肌相对未受累，其他肌肉有特定的纹理异常。有证据表明，全身肌肉MRI可成为缺乏层黏连蛋白的CMD患儿鉴别诊断的有用辅助手段。已证明存在相当特征性的受累模式。MRI结果应结合临床和分子背景进行解读，以提高诊断准确性。
