Basura Gregory J, Hagland Shawn P, Wiltse Anna M, Gospe Sidney M
School of Medicine, University of Washington, Seattle, WA, USA.
Eur J Pediatr. 2009 Jun;168(6):697-704. doi: 10.1007/s00431-008-0823-x. Epub 2008 Sep 2.
To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada. From 1999 to 2007, 63 cases, ranging in age from 11 months to 40 years, were registered. All registered cases were diagnosed with PDS by their physicians using clinical criteria. Seventy percent of the cases presented with neonatal seizures, and the mean lag time between presentation and diagnosis was 313 days. Pyridoxine treatment regimens were varied, ranging from 50 to 2,500 mg per day (1.4 to 67.8 mg/kg/day). While 47 of the cases were seizure-free on pyridoxine monotherapy, over time, eight other cases also required the concomitant use of anticonvulsants for effective seizure control, while the remainder continued to have recurrent seizures, despite the use of pyridoxine and multiple anticonvulsants. Our review of this collection of cases suggests that, for some registered individuals, either pyridoxine may be acting as an adjunctive anticonvulsant or the patient may have developed a secondary etiology for seizures. In addition, some of these cases may have pyridoxine-responsive seizures (PRS) rather than pyridoxine-dependency. Four adult and seven school-aged cases were described as developmentally normal, while the other cases had a variety of neurodevelopmental handicaps. Twenty-five percent of the cases required the pharmacologic treatment of behavioral symptoms. Clinicians caring for neonates and other young patients with intractable seizures do not necessarily consider PDS as an etiology; therefore, certain cases may be undiagnosed or diagnosed late in the course of their evaluation and treatment. As the diagnosis of PDS can now be confirmed by genetic and biochemical testing, formal screening protocols for this disorder should be developed. Patients previously diagnosed with PDS by clinical criteria should also receive confirmatory testing.
为推动吡哆醇依赖性癫痫（PDS）的临床研究，在美国和加拿大为患病患者建立了一个罕见病登记处。1999年至2007年期间，登记了63例患者，年龄从11个月至40岁不等。所有登记病例均由其医生根据临床标准诊断为PDS。70%的病例表现为新生儿癫痫，从发病到诊断的平均延迟时间为313天。吡哆醇治疗方案各不相同，每天剂量从50毫克至2500毫克（1.4至67.8毫克/千克/天）。虽然47例患者单用吡哆醇治疗时无癫痫发作，但随着时间推移，另外8例患者也需要同时使用抗惊厥药物才能有效控制癫痫发作，其余患者尽管使用了吡哆醇和多种抗惊厥药物，仍有癫痫复发。我们对这组病例的回顾表明，对于一些登记的个体，要么吡哆醇可能作为辅助抗惊厥药物起作用，要么患者可能出现了癫痫发作的继发病因。此外，其中一些病例可能是吡哆醇反应性癫痫（PRS）而非吡哆醇依赖性癫痫。4例成人和7例学龄儿童病例被描述为发育正常，而其他病例有各种神经发育障碍。25%的病例需要对行为症状进行药物治疗。照顾患有难治性癫痫的新生儿和其他年轻患者的临床医生不一定会将PDS视为病因；因此，某些病例可能在评估和治疗过程中未被诊断或诊断较晚。由于现在可以通过基因和生化检测确诊PDS，应制定针对该疾病的正式筛查方案。以前根据临床标准诊断为PDS的患者也应接受确诊检测。
