MRI of a 8 month old boy ...

MRI of a 8 month old boy with macrocephaly harboring a homozygous mutation in MLC1. (A) Notice the diffuse swelling aspect of the abnormal hyperintense signal in T2 weighted image also involving the internal capsule; (B) the same areas appear markedly hypointense in the FLAIR weighetd images indicating abnormal vacuolation of the white matter; (C) the abnormal hyperintense T2 weighted signal also involves the white matter of the cerebellum; (D) the diffuse swelling aspect with increased vacuolation is also clear in the parasaggital T1 weighted image.