[Massive rhabdomyolysis revealing a McArdle disease]

Abstract

Introduction: McArdle's disease is an autosomal recessive glycogenosis caused by deficiency of muscle glycogen phosphorylase resulting in glycogen accumulation in the skeletal muscle. Typically, McArdle's disease is characterized by exercise intolerance with muscle cramps and myoglobinuria.

Case report: We report a 20-year-old woman with massive rhabdomyolysis and acute renal failure revealing a McArdle's disease.

Discussion: Although muscle impairment is constant in McArdle's disease, massive rhabdomyolysis with severe acute renal failure has been rarely reported as a presenting feature. The mechanisms and therapeutic implications of renal injury are discussed.