| Literature DB >> 33678976 |
Marissa Hammers1, Faris Hashim2, Christian Hanna3, Amanda Farris4, Stephanie Blasick4.
Abstract
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 BIN1 gene diagnostic of congenital centronuclear myopathy.Entities:
Keywords: Centronuclear myopathy; pediatric; rhabdomyolysis; steroid treatment
Year: 2020 PMID: 33678976 PMCID: PMC7901411 DOI: 10.1080/08998280.2020.1851627
Source DB: PubMed Journal: Proc (Bayl Univ Med Cent) ISSN: 0899-8280