Neuroimaging findings in late infantile GM1 gangliosidosis.

Abstract

Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.