Magnetic resonance imaging and diffusion‐weighted imaging in methylmalonic acidemia

Abstract

Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms. We present the results of magnetic resonance imaging (MRI) and diffusion‐weighted imaging (DWI) of the brain in a 16‐month‐old male patient with classic neurological and laboratory findings for MMA. MRI demonstrated the hyperintensity within globi pallidi both on T2‐weighted image and DWI during the acute episode of metabolic acidosis.