Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature

BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal-recessive inborn error of metabolism. OBJECTIVE: To recognize the CT and MR brain sectional imaging findings in children with MMA. MATERIALS AND METHODS: Brain imaging studies (47 MR and 5 CT studies) from 52 children were reviewed and reported by a neuroradiologist. The clinical data were collected for each patient. RESULTS: The most common findings were ventricular dilation (17 studies), cortical atrophy (15), periventricular white matter abnormality (12), thinning of the corpus callosum (8), subcortical white matter abnormality (6), cerebellar atrophy (4), basal ganglionic calcification (3), and myelination delay (3). The brain images in 14 patients were normal. CONCLUSION: Radiological findings of MMA are nonspecific. A constellation of common clinical and radiological findings should raise the suspicion of MMA.