Rankin Peter M, Harrison Sue, Chong W K, Boyd Stewart, Aylett Sarah E
Developmental Cognitive Neuroscience Unit, Institute of Child Health, University College London, UK.
Dev Med Child Neurol. 2007 Apr;49(4):300-5. doi: 10.1111/j.1469-8749.2007.00300.x.
The neuropsychological and clinical histories of three male siblings affected by pyridoxine-dependent seizures with known homozygous antiquitin mutations are presented. Neuropsychological evaluation is reported from when the siblings were 11, 9, and 7 years of age. Two of the siblings had received early pyridoxine treatment (antenatal, 2-4 wks into pregnancy) and one had received late treatment (2mo postnatal). However, there was no differential effect on cognitive outcome, with all three siblings having moderate to severe learning disability. Unlike previously reported cases that received early postnatal treatment, none of the siblings had relatively preserved non-verbal cognitive skills. Equally, their intellectual performance over time did not increase above the 1st centile despite high maintenance doses of vitamin B6 (range 16-26 mg/kg/d), and mild sensory neuropathy was reported on nerve conduction studies. The findings in these siblings challenge assumptions that early and high dose pyridoxine treatment can benefit cognition in this population and suggest routine electromyography monitoring may be beneficial.
本文介绍了三名患有吡哆醇依赖性癫痫且已知存在纯合抗喹啉突变的男性同胞的神经心理学和临床病史。报告了这三名同胞在11岁、9岁和7岁时的神经心理学评估情况。其中两名同胞接受了早期吡哆醇治疗（产前，妊娠2 - 4周），一名接受了晚期治疗（出生后2个月）。然而，对认知结果没有差异影响，三名同胞均有中度至重度学习障碍。与之前报道的接受早期产后治疗的病例不同，这些同胞均没有相对保留的非语言认知技能。同样，尽管给予高维持剂量的维生素B6（范围为16 - 26mg/kg/d），他们的智力表现随时间推移并未超过第1百分位，并且神经传导研究报告有轻度感觉神经病变。这些同胞的研究结果对早期和高剂量吡哆醇治疗可使该人群认知受益的假设提出了挑战，并表明常规肌电图监测可能有益。
