Scoliosis in mitochondrial myopathy case report and review of the literature

Abstract

The mitochondrial myopathies include a diverse group of disorders characterized by morphological abnormalities of muscle mitochondria. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of mitochondrial myopathies and explores the possible mechanisms between the 2 diseases. A previously unreported scoliosis in mitochondrial myopathies is described. The patient was a 16-year-old Chinese adolescent boy undergoing a posterior correction at thoracic 2-lumbar 3 (T2-L3) levels using the Moss-SI spinal system. At 48-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. After evaluating 60 mitochondrial myopathies, patients referred to Peking Union Medical College Hospital from February 2009 to May 2013, the prevalence of scoliosis among patients with mitochondrial myopathies was 5% (3/60), much higher than that among general population (2%). The scoliosis in mitochondrial myopathies is usually extensive and progressively aggravated and the correction of the associated spinal deformities is generally difficult. Therefore, the exact role of mitochondrialmyopathy in the development of scoliosis requires further study for a better understanding of the disease, as well as adequate and effective patient care.