Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe
seizure disorder of neonatal onset. There are a few reports including neuroimaging studies, such as cranial CT and MRI, and one report with longitudinal MRI findings in two cases with
pyridoxine-dependent seizures (PDS). We report long-term follow-up of two siblngs with PDS in the light of clinical, EEG, CT and MRI findings, and
pyridoxine treatment. The first patient, an 8-year-old female who had neonatal
seizures, has sequential cranial CT and MRIs which are normal except for mega cistema magna thus far. She still has mild
mental retardation, although the accurate diagnosis was made when she was 6 years old and
pyridoxine treatment was initiated. The second patient, a 1-year-old female, who is the younger sibling of the first patient, presented with neonatal
seizures and PDS was diagnosed immediately, with resulting
pyridoxine treatment (10 mg/kg/day). She is now neurologically normal, seizure-free, and has sequential normal CT and MRIs. These patients show rather benign clinical courses.