Diagnosis: Maple Syrup Urine Disease

Clinical Presentation: Poor feeding, vomiting , lethargy and developmental delay in early infancy. Characteristic odor of urine.

Etiology: Impaired catabolism of branched-chain amino acids caused by deficiency of alpha-ketoacid dehydrogenase complex.

Imaging: Restricted diffusion involving cerebellar white matter, brainstem, Basal ganglia, internal capsules and rolandic white matter. Involvement of optic pathway may occur. Associated with increased T2 signal with affected regions. MRS demonstrates large peak at 0.9 ppm representing branched chain amino acids as well as a lactate peak at 1.3 ppm.

Discussion: Multiple types with classic most common and worst prognosis. Other types include intermittent, and thiamine-responsive.