title: Neurological manifestations of folate transport defect: case report and review of the literature.
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.
authors.affiliation: Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva, Isreal. soferyael@yahoo.com
authors.forename: Yael
authors.initials: Y
authors.lastname: Sofer
authors.forename: Liora
authors.initials: L
authors.lastname: Harel
authors.forename: Mohamad
authors.initials: M
authors.lastname: Sharkia
authors.forename: Jacob
authors.initials: J
authors.lastname: Amir
authors.forename: Tommy
authors.initials: T
authors.lastname: Schoenfeld
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
mesh_terms: D005492:Folic Acid / Q000008:administration & dosage / Q000378:metabolism*; D005494:Folic Acid Deficiency / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D009460:Neurologic Examination / Q000379:methods; D012196:Review Literature as Topic
chemical_list: D005492:Folic Acid