Pyridoxine-dependent seizures and cognition in adulthood.
Pyridoxine-dependent seizures and cognition in adulthood.
复制标题
成年期吡哆醇依赖性癫痫发作和认知。
DOI：
10.1017/s0012162203001440
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发表时间：
2003
影响因子：
3.8
通讯作者：
GospeJr,SidneyM
中科院分区：
文献类型：
--
作者：
Baynes,Kathleen;Farias,SarahTomaszewski;GospeJr,SidneyM
本文报告1例早期诊断和治疗的男性新生儿吡哆醇依赖性癫痫发作。患者在出生后8小时内发现癫痫，并用吡哆醇(维生素B6)治疗。从那时起，治疗几乎是连续的。本文报告了在37岁时进行全面的神经心理学评估的结果，并在31岁时完成了MRI检查。与文献中的其他病例报告一致，有显著的操作智商(PIQ)优势，但言语智商(VIQ)和表达语言技能(全量表智商71，VIQ，PIQ 85)降低。MRI显示有特征性的骨痂后部变薄。这份报告提供了一个早期治疗的例子，但仍会导致轻度精神发育迟滞。MRI上的结构变化和该患者的认知特征与文献中报道的其他患者相似，这表明两者的潜在机制可能是相同的。
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.