Teaching Neuro <i>Images</i> : White matter hypomyelination and progressive calcifications in cerebral folate deficiency

Abstract excerpt

Cerebral folate transport deficiency is caused by homozygous or compound heterozygous mutations of the FOLR1 gene.1 Recently, we found a homozygous FOLR1 mutation (NM_016725.2: c.562C>G p.[Leu188Val]) in a 2.5-year-old boy with febrile and nonfebrile status epilepticus, progressive ataxia, and progressive MRI abnormalities. Until the diagnosis was made, serial MRI had been performed (figure). CSF analysis...