Pyridoxine-dependent seizures associated with white matter abnormalities.
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.
Jardim
L B
LB
Medical Genetics Unit, Hospital de Clinicas de Porto Alegre, Brazil.
Pires
R F
RF
Martins
C E
CE
Vargas
C R
CR
Vizioli
J
J
Kliemann
F A
FA
Giugliani
R
R
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
D005680:gamma-Aminobutyric Acid; D011736:Pyridoxine