Refractory rhabdomyolysis responsive to corticosteroid therapy

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.

Keywords:

• Centronuclear myopathy
• pediatric
• rhabdomyolysis
• steroid treatment