Neurological manifestations of folate transport defect: case report and review of the literature.
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.
Sofer
Yael
Y
Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva, Isreal. soferyael@yahoo.com
Harel
Liora
L
Sharkia
Mohamad
M
Amir
Jacob
J
Schoenfeld
Tommy
T
Straussberg
Rachel
R
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
D005492:Folic Acid