Table 2.

Red flags in the MRI brain findings that should prompt consideration of another diagnosis.

Normal neuroimaging

Nonspecific abnormalities, such as isolated globus pallidus involvement, which can suggest methylmalonic aciduria

Imaging may demonstrate specific lesions that are inconsistent with perinatal brain injury, but characteristic of a particular genetic disorder, such as leukodystrophies, features of glutaric aciduria type 1, or features of Joubert syndrome