Gliotic, nodular lesions in phenylketonuria: MR imaging findings

Phenylketonuria represents one of the amino acid disorders. In this condition, and in other aminoacidurias, findings in MR imaging studies are generally nonspecific. We report a patient with phenylketonuria who had nodular lesions lesions associated with the usual deep white matter involvement seen in the condition. We suggest that these nodular lesions may represent foci of gliotic tissue, as previously shown by neuropathological studies on phenylketonuria.