Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency

Joost Nicolai*, Marjan J. A. van Kempen, Linda Postma - Jacobi

*Corresponding author for this work

Research output: Contribution to journalEditorialAcademicpeer-review

3 Citations (Web of Science)

Abstract

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 (5-methyltetrahydrofolate 40 nmol/L) and magnetic resonance spectroscopy showing a low choline peak validated the pathogenicity of our findings.(2
Original languageEnglish
Pages (from-to)E4-E5
JournalNeurology
Volume87
Issue number1
DOIs
Publication statusPublished - 5 Jul 2016

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