先天性肌病(CMs)是一组主要影响肌纤维的疾病,特别是收缩装置和不同的组件,以调节其正常功能。它们在出生时或生命的第一年表现为肌肉无力和张力减退。中央核CM的特征在于位于肌肉纤维中央和内部的核的高发生率。临床病例:一名22岁的男性患者,从小就有肌肉无力的症状,根据他的年龄很难进行体育锻炼,有一张长长的脸,蹒跚的步态,和肌肉质量的全球减少。进行了肌电图检查,表现出神经源性模式,而不是预期的肌病模式,神经传导,腓骨神经运动电位振幅降低,胫后神经轴突和髓鞘损伤。用苏木精-伊红和Masson三色染色的所研究的横纹肌碎片的显微镜研究显示存在具有中心核的纤维,诊断CM。患者符合CM的大部分描述,所有横纹肌都参与其中,尽管重要的是要注意这种情况下存在的神经源性模式,由于受损的肌肉纤维的神经支配,包含末端轴突段。神经传导显示运动神经受累,但是在正常的感官研究中,轴突多发性神经病不太可能,由于正常的感觉电位。根据这种疾病中的突变基因,已经描述了不同的病理发现,但是所有这些都与通过这种方式诊断的具有中心核的纤维的存在相吻合,这在无法进行基因研究的机构中非常重要,并允许早期特定治疗,根据患者通过的阶段。
Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers. Clinical
case: a 22-year-old male patient with symptoms of muscle weakness since early childhood, with difficulty in performing physical activity according to his age, with the presence of a long face, a waddling gait, and a global decrease in muscle mass. Electromyography was performed, showing a neurogenic pattern and not the expected myopathic one, neuroconduction with reduced amplitude of the motor potential of the peroneal nerve and axonal and myelin damage of the posterior tibial nerves. The microscopic study of the studied striated muscle fragments stained with hematoxylin-eosin and Masson\'s trichrome showed the presence of fibers with central nuclei, diagnosing CM. The patient meets most of the description for CM, with involvement of all striated muscles, although it is important to note the neurogenic pattern present in this
case, due to the denervation of damaged muscle fibers, which contain terminal axonal segments. Neuroconduction shows the involvement of motor nerves, but with normal sensory studies, axonal polyneuropathy is unlikely, due to normal sensory potentials. Different pathological findings have been described depending on the mutated gene in this disease, but all coincide with the presence of fibers with central nuclei for diagnosis by this means, which is so important in institutions where it is not possible to carry out genetic studies, and allowing early specific treatment, according to the stage through which the patient passes.