[Cranial computed tomography in maple syrup urine disease]

Cranial computed tomography in the initial stage of the intermediate phenotype of maple syrup urine disease (MSUD) demonstrates diffuse, symmetric hypodensities in white and grey matter, which show a complete return to normal after early introduction of an adequate protein-restrictive diet. If diagnosis of this disease is missed or delayed, progressive global (end-stage) atrophy will take place over several years. A decrease in density values correlates well with the total cerebral lipid and water content (closely related to myelinisation), whereas progression and grade of atrophy show a relationship with the severity of pathological white and grey matter changes that are not demonstrable with computed tomography but can be proven histologically. Analysis of both morphological parameters corresponds well with clinical-neurological outcome and therapeutic success.