López-Hernández Juan Carlos, Galnares-Olalde Javier A, Benitez-Alonso Edmar, Alcalá Raul E, Vargas-Cañas Edwin Steven
Neuromuscular Diseases, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, MEX.
Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, MEX.
Cureus. 2021 Oct 18;13(10):e18873. doi: 10.7759/cureus.18873. eCollection 2021 Oct.
Late-onset limb-girdle myopathies pose a diagnostic challenge. The most common etiologies are inflammatory, followed by genetic and metabolic. Rare cases include limb-girdle dystrophies and permanent myopathies (vacuolar), such as those associated with hypokalemic periodic paralysis (HypoPP). We present the case of a 59-year-old male who initiated with episodic acute severe weakness when he was 11, during which serum potassium levels of <2.5 meq/L were revealed during workup. Potassium reposition reversed these episodes. They occurred every three to five years, and the last episode was five years prior to the current illness. When he was 58, he presented progressive pelvic girdle weakness. On examination, he presented decreased strength in the iliopsoas and quadriceps. The laboratory results showed mildly elevated creatine kinase. Muscle biopsy revealed a vacuolar myopathy, and genetic testing identified a pathogenic variant in the CACNA1S gene, locus 1q32.1
晚发性肢带型肌病带来了诊断挑战。最常见的病因是炎症性的，其次是遗传性和代谢性的。罕见病例包括肢带型肌营养不良症和永久性肌病（空泡性），如与低钾性周期性麻痹（HypoPP）相关的那些。我们报告一例59岁男性病例，他11岁时开始出现发作性急性严重肌无力，检查时发现血清钾水平<2.5 meq/L。补钾可逆转这些发作。发作每三到五年出现一次，最后一次发作是在当前疾病发生前五年。58岁时，他出现进行性骨盆带肌无力。检查发现，他的髂腰肌和股四头肌力量减弱。实验室检查结果显示肌酸激酶轻度升高。肌肉活检显示为空泡性肌病，基因检测在1q32.1位点的CACNA1S基因中发现了一个致病变异
