Pyridoxine-dependent seizures and cognition in adulthood
Article first published online: 13 FEB 2007
Developmental Medicine & Child Neurology
Volume 45, Issue 11, pages 782–785, November 2003
How to Cite
Baynes, K., Tomaszewski, S. and Gospe, S. M. (2003), Pyridoxine-dependent seizures and cognition in adulthood. Developmental Medicine & Child Neurology, 45: 782–785. doi: 10.1111/j.1469-8749.2003.tb00889.x
- Issue published online: 13 FEB 2007
- Article first published online: 13 FEB 2007
- Accepted for publication 6th May 2003.
A case report of neonatal onset pyridoxine-dependent seizures in a male patient with early diagnosis and treatment is presented. The patient's epilepsy was recognized and treated with pyridoxine (vitamin B6) within 8 hours of birth. Treatment has been nearly continuous since that time. This paper reports the results of a full neuropsychological evaluation at age 37 years and MRI completed at age 31 years. Consistent with other case reports in the literature, there was a significant Performance IQ (PIQ) advantage with decreased Verbal IQ (VIQ) and expressive language skills (Full-Scale IQ 71, VIQ 64, PIQ 85). MRI demonstrated characteristic thinning of the posterior corpus callosum. This report provides an example of early treatment that nonetheless results in a mild mental retardation. The similarity of the structural changes on MRI and the cognitive profile of this patient to those of others reported in the literature suggest that the underlying mechanism for both may be the same.