May 15, 2014: Recurrent Rhabdomyolysis
May 15, 2014
Rhabdomyolysis is a clinical syndrome characterized by rapid breakdown of striated muscle tissue with release of intracellular products such as myoglobin. Symptoms and findings include myalgias, weakness, dark colored urine, and acute kidney injury (1). Rhabdomyolysis has a varied set of etiologies, though recurrent episodes, especially in the pediatric population are most often related to genetic conditions. Inborn errors of metabolism including disorders of fatty acid oxidation, carnitine transport, glycogen metabolism, as well as and mitochondrial myopathies can present with recurrent rhabdomyolysis from childhood through adulthood (2). A diagnostic workup can include muscle biopsy, biochemical testing, and genetic testing.
1. Elsayed EF and Reilly RF. Rhabdomyolysis: a review, with emphasis on the pediatric populations. Pedatr Neprhol 2010; 25:7-18.
2. Izumi R, Suzuki N, Nagata M, et al. A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. Intern Med 2011; 50:2663-2668.
Dr. Numis is a member of the Resident and Fellow Section of Neurology.