Jiao Xianru, Gong Pan, Niu Yue, Zhang Yuehua, Yang Zhixian
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Front Genet. 2022 Apr 12;13:804461. doi: 10.3389/fgene.2022.804461. eCollection 2022.
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 mutation, pyridox(am)ine-5'-phosphate oxidase () deficiency, and deficiency. We analyzed data from a cohort of 54 cases with PDE, 13 cases with deficiency, and 2 cases with deficiency and looked for the presentation of ES among them. A total of 11 patients with the seizure presentation of ES have been collected. Among them, four patients carried mutations in , six carried mutations in , and the remaining one carried mutation in . 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 deficiency, respectively. In the PDE and deficiency groups, seizures were controlled by pyridoxine monotherapy, and the remaining one had refractory seizures due to secondary brain atrophy. In the groups with 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. ES might be a common form of seizures in 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 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.
分析维生素B6依赖型癫痫中癫痫性痉挛（ES）的临床特征、治疗及预后，包括由突变引起的吡哆醇依赖型癫痫（PDE）、吡哆醛（胺）-5'-磷酸氧化酶（PNPO）缺乏症以及其他缺乏症患者。我们分析了54例PDE、13例其他缺乏症和2例PNPO缺乏症患者的数据，并在其中寻找ES的表现。共收集到11例有ES发作表现的患者。其中，4例患者携带相关基因突变，6例携带相关基因突变，其余1例携带相关基因突变。该队列分析确定了9例表现为婴儿痉挛症的病例，分布在这三种疾病中，2例分别诊断为PDE和其他缺乏症的患者表现为大田原综合征。在PDE和其他缺乏症组中，癫痫发作通过吡哆醇单一疗法得到控制，其余1例因继发性脑萎缩出现难治性癫痫发作。在PNPO缺乏症组中，1例患者在接受磷酸吡哆醛（PLP）联合丙戊酸治疗时无癫痫发作，3例通过PLP单一疗法、吡哆醇或PLP联合其他抗癫痫药物治疗仍有不频繁发作，2例死亡。在2例表现为大田原综合征的病例中，经过正规治疗，1例无癫痫发作，另1例癫痫发作频率显著降低，且二者脑电图均有改善。ES可能是PNPO缺乏症中常见的癫痫发作形式，脑电图表现为高峰失律或爆发抑制模式。吡哆醇难以控制由继发性脑损伤引起的频繁癫痫发作。在我们的PNPO缺乏症队列中，婴儿痉挛症患者对PLP的反应并不比吡哆醇更好。及时、正确的治疗可防止患儿疾病从大田原综合征和婴儿痉挛症转变为后续的癫痫性脑病或难治性癫痫。
