Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

Abstract

Rhabdomyolysis may result from various factors, namely trauma, exercise, medications, infections, endocrine disorders, congenital myopathies, and metabolic diseases.1 Among the latter, mitochondrial fatty acid β-oxidation (FAO) defects frequently cause recurrent rhabdomyolysis. FAO disorders are recessively inherited and have a combined incidence of 1:9,300, estimated after implementation of newborn screening programs by tandem mass spectrometry (MS/MS).2 Clinical manifestations of these disorders range from sudden infant death to Reye-like syndrome, nonketotic hypoglycemia, skeletal myopathy, peripheral neuropathy, and progressive cardiomyopathy. Here, we describe an 18-month-old child presenting with episodes of recurrent rhabdomyolysis related to mitochondrial trifunctional protein deficiency (MTPD), without additional manifestations of FAO defects. We discuss the diagnosis of MTPD and review the prognosis and treatments. The authors thank Jean Ann Gilder, Scientific Communication srl, for editing the text and Vittorio Lucignano, CEINGE–Biotecnologie Avanzate, for technical assistance.