LAUSR

PURPOSE We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe ventricular dilatation, follow-up magnetic resonance imaging (MRI) findings from one year later, and the clinical manifestations, neuropsychological scores, genetic test results, urine and blood laboratory results and evolution of the disorder. MATERIALS AND METHODS This study describes the recent and remote neuropathologic findings, reviews the literature, and discusses the possible pathogenetic mechanisms of these central nervous system lesions. RESULTS Patients with MMA may have signs of basal ganglia hemorrhage during acute onset, and the hemorrhage may disappear after treatment. During the treatment, both laboratory examination indexes and neuropsychological scores improved. There was a correlation between the evolution of bilateral basal ganglia hemorrhage using MRI(magnetic resonance imaging) and neurological damage recovery in this infant with MMA. CONCLUSION There was a correlation between the evolution of the bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with MMA. We recommend performing conventional MR and diffusion-weighted imaging (DWI) examinations in patients with MMA who present with neurological symptoms.