Hammers Marissa, Hashim Faris, Hanna Christian, Farris Amanda, Blasick Stephanie
Department of Pediatrics, Texas A&M Health Sciences Center, Baylor Scott & White McLane Children's Medical Center, Temple, Texas.
Division of Pediatric Nephrology, Texas A&M Health Sciences Center, Baylor Scott & White McLane Children's Medical Center - Temple, Temple, Texas.
Proc (Bayl Univ Med Cent). 2020 Dec 14;34(2):314-315. doi: 10.1080/08998280.2020.1851627.
Rhabdomyolysis is a severe form of myopathy and a relatively common condition affecting the pediatric population. Early and aggressive intravenous volume expansion remains the mainstay of rhabdomyolysis treatment in both children and adults to minimize potential serious complications, including heme-induced acute kidney injury and metabolic abnormalities. We describe a 15-year-old boy with a previous hospital admission for rhabdomyolysis who presented with tea-colored urine, muscle cramps, and weakness with significant elevation of creatinine kinase (CK) following a viral illness. Due to minimal response to aggressive intravenous fluid therapy, intravenous methylprednisolone was administered, leading to a dramatic decrease in the CK level and improvement in his clinical symptoms. Genetic analysis revealed a mutation in the gene diagnostic of congenital centronuclear myopathy.
横纹肌溶解症是一种严重的肌病形式，是影响儿童群体的相对常见病症。早期积极进行静脉补液扩容仍是儿童和成人横纹肌溶解症治疗的主要方法，以尽量减少潜在的严重并发症，包括血红素诱导的急性肾损伤和代谢异常。我们描述了一名15岁男孩，他曾因横纹肌溶解症住院，在一次病毒感染后出现茶色尿、肌肉痉挛和肌无力，同时肌酸激酶（CK）显著升高。由于积极的静脉补液治疗反应甚微，遂给予静脉注射甲泼尼龙，结果CK水平显著下降，临床症状改善。基因分析显示诊断为先天性中央核性肌病的基因存在突变。
