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Pyridoxine‐dependent seizures and cognition in adulthood
Author(s) -
Baynes Kathleen,
Tomaszewski Sarah,
Gospe Sidney M
Publication year - 2003
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2003.tb00889.x
Subject(s) - corpus callosum , neuropsychology , pyridoxine , cognition , epilepsy , pediatrics , cognitive deficit , psychology , audiology , medicine , intelligence quotient , psychiatry , neuroscience , cognitive impairment
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 B 6 ) 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.