Chakrabarty Biswaroop, Sharma M C, Gulati Sheffali, Sarkar Chitra
1 Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
2 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
J Child Neurol. 2017 Dec;32(14):1099-1103. doi: 10.1177/0883073817738466.
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3. Of the 8 and 5 muscle biopsy-confirmed cases of Ullrich congenital muscular dystrophy and dystrophinopathy, 6 Ullrich congenital muscular dystrophy and 5 dystrophinopathy cases showed absent and preserved COL6 staining, respectively, in the skin biopsy. Skin biopsy as a diagnostic option has shown encouraging results in Ullrich congenital muscular dystrophy. These should be evaluated in larger studies.
乌尔里希先天性肌营养不良（UCMD）的金标准诊断测试是对COL6突变进行分子检测。基因检测设备稀少，该病通常通过肌肉活检来诊断。后者是一种侵入性操作，需要专业技能和镇静措施。皮肤活检已显示出作为一种更简单诊断方式的前景。分别对11例和7例表型疑似乌尔里希先天性肌营养不良和肌营养不良症的患者进行了同步皮肤和肌肉活检，活检样本进行苏木精和伊红（H&E）染色以及针对胶原蛋白VI和抗肌萎缩蛋白1、2和3的免疫组织化学染色。在8例和5例经肌肉活检确诊的乌尔里希先天性肌营养不良和肌营养不良症病例中，皮肤活检显示，6例乌尔里希先天性肌营养不良病例的胶原蛋白VI染色缺失，5例肌营养不良症病例的胶原蛋白VI染色保留。皮肤活检作为一种诊断选择，在乌尔里希先天性肌营养不良中已显示出令人鼓舞的结果。这些结果应在更大规模的研究中进行评估。
