Classical imaging in cerebral folate transport deficiency

Abstract

Cerebral folate transport deficiency is an inherited disorder with late infantile-onset caused by nonsense mutations in the folate receptor 1 gene coding for folate receptor alpha. We report a case of a 4-year-old female child, who presented with global neurodevelopmental regression with onset at 15 months of age with an electroencephalogram showing poorly modulated polymorphic delta sleep background. Based on the clinical features, age of onset, and imaging findings, the possibility of cerebral folate transport deficiency (OMIM#613068) was considered. Targeted gene sequencing confirmed the diagnosis.