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Pyridoxine-dependent seizures and cognition in adulthood

Published online by Cambridge University Press:  16 October 2003

Kathleen Baynes ,
Sarah Tomaszewski Farias  and
Sidney M Gospe Jr
Kathleen Baynes
Affiliation:
Department of Neurology, and Center for Neurosciences, University of California, Davis, CA, USA.
Sarah Tomaszewski Farias
Affiliation:
Department of Neurology, University of California, Davis, CA, USA.
Sidney M Gospe Jr
Affiliation:
Departments of Neurology and Pediatrics, University of Washington, and Children's Hospital and Regional Medical Center, Seattle, WA, USA.
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Abstract

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.

Type
Case Report
Information
Developmental Medicine and Child Neurology , Volume 45 , Issue 11 , November 2003 , pp. 782 - 785
Copyright
© 2003 Mac Keith Press

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