MLASA syndrome: A case report

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA)syndrome is a rare autosomal recessive disorder of oxidative phosphorylationand iron metabolism. The association between myopathy and sideroblasticanemia was initially reported in 1974. Here we report an 8.5 year old boywith normal cognitive function, suffering from chronic progressive weaknessin his lower extremities, inability to walk and palor. Microcytic sideroblasticanemia, mild lactic acidosis and inflammatory myopathy (myositis) in musclebiopsy was detected and treated; the response to corticosteroid therapyand rehabilitation was excellent and the patient was ambulatory after fourmonths.