PDF(Pubmed)
Abstract：
The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy of muscle histopathology in the diagnostic algorithm of hypotonia in early infancy through a retrospective analysis of 197 infants who underwent muscle biopsy in their first 18 months of life. Data analysis revealed that 92/197 (46.7%) of muscle biopsies were non-specific (80) or normal (12), not allowing a specific diagnosis. In 41/197 (20.8%) cases, biopsy suggested a metabolic or mitochondrial myopathy, while in 23/197 cases (11.7%), we found evidence of muscular dystrophy. In 19/197 cases (9.7%), histopathology characteristics of a congenital myopathy were reported. In 22/197 cases (11.7%), the histopathological study indicated presence of a neurogenic damage. Overall, 46 diagnoses were then achieved by oriented genetic tests. Muscle biopsy results were consistent with genetic results in 90% of cases. Diagnostic algorithms for the diagnosis of a floppy infant are largely missing. Muscle biopsy alone can lead to a diagnosis, help the clinician in the choice of a genetic test, or even modify a diagnosis made previously.
摘要：
肌肉活检在松软婴儿的诊断检查中的作用是有争议的。肌肉取样是侵入性的，而且经常,结果并不具体。遗传方法的快速扩展使肌肉组织病理学分析变得不那么重要。本研究旨在通过对197名在生命的前18个月接受肌肉活检的婴儿进行回顾性分析，评估肌肉组织病理学在婴儿期早期张力减退诊断算法中的作用和功效。数据分析显示，92/197（46.7％）的肌肉活检是非特异性（80）或正常（12），不允许特定的诊断。在41/197（20.8%）病例中，活检提示代谢或线粒体肌病，而在23/197例(11.7%)中，我们发现了肌营养不良的证据.在19/197例(9.7%)中，报告了先天性肌病的组织病理学特征。在22/197例中（11.7%），组织病理学研究表明存在神经源性损伤.总的来说,然后通过定向遗传测试获得46个诊断。在90%的病例中，肌肉活检结果与遗传结果一致。用于诊断松软婴儿的诊断算法在很大程度上缺失。仅靠肌肉活检就能导致诊断，帮助临床医生选择基因测试，甚至修改之前的诊断。
