Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.
Diffusion-weighted magnetic resonance imaging (DW-MRI) of the brain was performed in two patients with methylmalonic aciduria who presented signs and symptoms of neurological involvement without metabolic decompensation. Patient 1 presented acute metabolic stroke and patient 2 presented subacute encephalopathy. Brain DW-MRI confirmed very recent damage in patient 1, while the absence of brain lesions on brain DW-MRI indicates the development of more chronic damage in patient 2. Brain DW-MRI represents an additional and complementary tool in the assessment of brain damage in methylmalonic aciduria patients who develop neurological syndrome.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D004058:Diffusion; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*
D008764:Methylmalonic Acid