PDF(Pubmed)
Abstract：
Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6-dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5\'-phosphate oxidase (PNPO) deficiency, and PLPBP deficiency. Methods: We analyzed data from a cohort of 54 cases with PDE, 13 cases with PNPO deficiency, and 2 cases with PLPBP deficiency and looked for the presentation of ES among them. Results: A total of 11 patients with the seizure presentation of ES have been collected. Among them, four patients carried mutations in ALDH7A1, six carried mutations in PNPO, and the remaining one carried mutation in PLPBP. The analysis of this cohort identified nine cases presenting as infantile spasms distributed in the three diseases and two cases presenting as Ohtahara syndrome diagnosed with PDE and PNPO deficiency, respectively. In the PDE and PLPBP deficiency groups, seizures were controlled by pyridoxine monotherapy, and the remaining one had refractory seizures due to secondary brain atrophy. In the groups with PNPO deficiency, one patient showed seizure-free when treated by PLP combined with valproic acid, three still had infrequent seizures treated by PLP monotherapy or pyridoxine or PLP combined with other antiseizure medications, and two died. In two cases presenting as Ohtahara syndrome, after regular treatment, one showed seizure-free, the others showed a marked decrease in seizure frequency, and they both showed an improvement in EEG. Significance: ES might be a common form of seizures in PNPO deficiency, and EEG presented as hypsarrhythmia or a burst suppression pattern. It is difficult for pyridoxine to control frequent seizures caused by secondary brain injury. In our PNPO deficiency cohort, patients with infantile spasms did not respond better to PLP than pyridoxine. Timely and correct treatment could prevent the transformation of the child\'s disease from Ohtahara syndrome and infantile spasms to subsequent epileptic encephalopathy or refractory epilepsy.
摘要：
目的:分析临床特点,治疗,维生素B6依赖性癫痫的癫痫性痉挛（ES）的预后，包括由ALDH7A1突变引起的吡哆醇依赖性癫痫（PDE）患者，吡啶(AM)-5'-磷酸氧化酶(PNPO)缺乏症，PLPBP缺乏症。方法：我们分析了54例PDE患者的队列数据，13例PNPO缺乏症，2例PLPBP缺乏症，并在其中寻找ES的表现。结果：共收集到11例有ES发作表现的患者。其中,四名患者携带ALDH7A1突变，六名携带PNPO突变，其余1例携带PLPBP突变。该队列的分析确定了分布在三种疾病中的9例表现为婴儿痉挛的病例和2例表现为被诊断为PDE和PNPO缺乏症的Ohtahara综合征的病例。分别。在PDE和PLPBP缺乏症组中，癫痫发作由吡哆醇单药治疗控制，其余患者因继发性脑萎缩而出现难治性癫痫发作。在PNPO缺乏的群体中，一名患者在接受PLP联合丙戊酸治疗时表现为无癫痫发作，通过PLP单一疗法或吡哆醇或PLP联合其他抗癫痫药物治疗的3例癫痫发作仍然很少，两人死亡。在两个表现为大田原综合征的病例中，常规治疗后,一个显示没有癫痫发作，其他人的癫痫发作频率明显下降，他们的脑电图都有改善.意义：ES可能是PNPO缺乏症中常见的癫痫发作形式，脑电图表现为心律失常或突发抑制模式。吡哆醇难以控制继发性脑损伤引起的频繁发作。在我们的PNPO缺乏症队列中，婴儿痉挛患者对PLP的反应并不比吡哆醇好.及时正确的治疗可以防止儿童疾病从大田原综合征和婴儿痉挛转变为随后的癫痫性脑病或难治性癫痫。
