MITOCHONDRIAL MYOPATHIES - AN UNUSUAL CAUSE OF HYPOTONIA IN INFANTS AND CHILDREN

Children frequently undergo muscle biopsy for the workup of hypotonia under general anaesthesia which poses unique risks in patients with un diagnosed muscle disease. Mitochondrial myopathies are a relatively ne wly recognized cause of myopathy and multisystem disease in both adult s and children. The diagnosis is complex. In addition to causing myopa thy, there are metabolic derangements present in some cases that may b e life-threatening We present three cases of children with hypotonia w here the diagnosis was suspected in two patients, and confirmed in the third. The question of whether patients with mitochondrial myopathies are at increased risk for developing malignant hyperthermia is discus sed.