Neurological manifestations of folate transport defect: Case report and review of the literature

Yael Sofer*, Liora Harel, Mohamad Sharkia, Jacob Amir, Tommy Schoenfeld, Rachel Straussberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Folate is essential for normal brain development. This report describes a 15-month-old boy who presented with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood (1.13 nmol/L) and cerebrospinal fluid, accompanied by pancytopenia. Bone marrow aspiration confirmed the presence of megaloblastic anemia. Treatment with high-dose intravenous folinic acid led to normalization of cerebrospinal folate levels. These findings apparently indicate a defect in folic acid transport to the central nervous system. A clinical picture of developmental arrest, seizures, somnolence, and megaloblastic anemia should alert physicians to the possibility of folate deficiency.

Original languageEnglish
Pages (from-to)783-786
Number of pages4
JournalJournal of Child Neurology
Volume22
Issue number6
DOIs
StatePublished - Jun 2007
Externally publishedYes

Keywords

  • Folate
  • Hereditary folate malabsorption

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