Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.
Dev Med Child Neurol. 2012 Sep;54(9):849-54. doi: 10.1111/j.1469-8749.2012.04347.x. Epub 2012 Jul 13.
The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied.
Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo-16y). The following data were retrieved: sex; age at seizure onset; age at the start of pyridoxine therapy; level of urinary alpha-aminoadipic semialdehyde; antiquitin mutations; developmental milestones; evaluation of neurocognitive functioning and school career; magnetic resonance imaging (MRI) and electroencephalography (EEG) assessments.
Pyridoxine was started antenatally in two children, in the first week of life in five, in the first month of life in three, or after the first month of life (range 2.5-8mo) in four. No child was physically disabled; however, only five walked at 2 years of age. Mental development was delayed in most: median IQ or developmental index was 72 (SD 19). Pyridoxine monotherapy controlled seizures in 10 of 14 children, whereas four needed additional antiepileptic drugs. Seizure persistence, antiepileptic drugs (other than pyridoxine), EEG background, and epileptiform activity were not associated with outcome. On neonatal MRI, structural and white matter abnormalities occurred in five of eight children; on follow-up, the number of abnormal MRIs was increased. Delayed initiation of pyridoxine medication and corpus callosum abnormalities were significantly associated with unfavourable neurodevelopmental outcome, but normal follow-up imaging did not predict a good outcome.
Outcome of patients with pyridoxine-dependent epilepsy remains poor. Individual outcome cannot be predicted by the evaluated characteristics. We suggest that collaborated research in structured settings could help to improve treatment strategies and outcome for pyridoxine-dependent epilepsy.
回顾性研究荷兰吡哆醇依赖性癫痫队列的长期结果以及患者特征与随访数据之间的相关性。
从国家参考实验室招募了 14 名患者（4 名男性，10 名女性，来自 11 个家庭；评估时的中位年龄为 6 岁；范围为 2 岁 6 个月至 16 岁）。检索了以下数据：性别；癫痫发作起始年龄；开始使用吡哆醇治疗的年龄；尿α-氨基己二酸半醛水平；抗维生素 K 缺乏因子突变；发育里程碑；神经认知功能和学业评估；磁共振成像（MRI）和脑电图（EEG）评估。
两名儿童在产前开始使用吡哆醇，五名儿童在出生后第一周，三名儿童在出生后第一个月，还有四名儿童在出生后第一个月后（范围 2.5-8 个月）开始使用吡哆醇。没有儿童身体残疾；然而，只有五名儿童在 2 岁时会走路。大多数儿童的智力发育延迟：中位数智商或发育指数为 72（标准差 19）。14 名儿童中有 10 名接受吡哆醇单药治疗控制了癫痫发作，而 4 名儿童需要额外的抗癫痫药物。癫痫发作持续时间、除吡哆醇以外的抗癫痫药物、脑电图背景和癫痫样活动与结局无关。在新生儿 MRI 上，8 名儿童中有 5 名出现结构和白质异常；在随访时，异常 MRI 的数量增加。吡哆醇治疗起始延迟和胼胝体异常与不良神经发育结局显著相关，但正常的随访影像学并不能预测良好的结局。
吡哆醇依赖性癫痫患者的预后仍然较差。评估的特征不能预测个体的预后。我们建议在结构化环境中开展合作研究，有助于改善吡哆醇依赖性癫痫的治疗策略和结局。
