Pyridoxine-Dependent Seizures Associated with White Matter Abnormalities

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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. Abbreviations CSF: Cerebrospinal fluid CNS: Central nervous system CT: Computed tomography EEG: Electroencephalogram GABA: Gama-aminobutyric acid GAD: Glutamate decarboxylase HPLC: High performance liquid chromatography PALP: Pyridoxal phosphate PDS: Pyridoxine-dependent seizures DOB: Date of birth

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