title: Pyridoxine-dependent seizures associated with white matter abnormalities.
abstract: Pyridoxine-dependent seizures are a disorder of GABA metabolism probably due to a defective binding of pyridoxal phosphate coenzyme (PALP) with glutamate decarboxylase (GAD), the rate-limiting enzyme in GABA synthesis. The resulting GABA deficiency causes severe epilepsy in infancy. We report on a boy with seizures starting soon after birth, and only controlled by pyridoxine at pharmacological dosages. After two months without seizures, a CT scan showed hypodense white matter in frontal and occipital lobes suggestive of a retarded or defective myelination. We are not aware of other descriptions of such morphological abnormalities in a patient with this disorder.
authors.affiliation: Medical Genetics Unit, Hospital de Clinicas de Porto Alegre, Brazil.
authors.forename: L B
authors.initials: LB
authors.lastname: Jardim
authors.forename: R F
authors.initials: RF
authors.lastname: Pires
authors.forename: C E
authors.initials: CE
authors.lastname: Martins
authors.forename: C R
authors.initials: CR
authors.lastname: Vargas
authors.forename: J
authors.initials: J
authors.lastname: Vizioli
authors.forename: F A
authors.initials: FA
authors.lastname: Kliemann
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D009417:Nerve Tissue / Q000000981:diagnostic imaging / Q000473:pathology; D011736:Pyridoxine / Q000627:therapeutic use*; D012640:Seizures / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology; D014057:Tomography, X-Ray Computed; D005680:gamma-Aminobutyric Acid / Q000172:deficiency
chemical_list: D005680:gamma-Aminobutyric Acid; D011736:Pyridoxine