Gibaud Marc, Barth Magalie, Lefranc Jérémie, Mention Karine, Villeneuve Nathalie, Schiff Manuel, Maurey Hélène, Barthez Marie-Anne, Caubel Isabelle, Chouchane Mondher, Doummar Diane, Kossorotoff Manoëlle, Lamblin Marie-Dominique, Roubertie Agathe, Nabbout Rima, Van Bogaert Patrick
Service de neuropédiatrie, CHU d'Angers, Angers, France.
Service de génétique médicale, CHU d'Angers, Angers, France.
Front Pediatr. 2021 Mar 5;9:621200. doi: 10.3389/fped.2021.621200. eCollection 2021.
To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as West syndrome, i. e., West syndrome that starts after the age of 2 months without other types of seizures (focal seizures for instance) before the onset of epileptic spasms. We analyzed data from an unpublished cohort of 28 genetically confirmed cases of PDE with antiquitine (ATQ) deficiency and performed a review of the literature looking for description of West syndrome in patients with either PDE with ATQ deficiency or PLP-dependent epilepsy with Pyridox(am)ine phosphate oxidase (PNPO) deficiency. Of the 28 cases from the ATQ deficiency French cohort, 5 had spasms. In four cases, spasms were associated with other types of seizures (myoclonus, focal seizures). In the last case, seizures started on the day of birth. None of these cases corresponded to West syndrome. The review of the literature found only one case of PNPO deficiency presenting as West syndrome and no case of ATQ deficiency. The presentation of PDE- and PLP-dependent epilepsy as West syndrome is so exceptional that it probably does not justify a systematic trial of pyridoxine or PLP. We propose considering a therapeutic trial with these vitamins in West syndrome if spasms are associated with other seizure types or start before the age of 2 months.
为了确定吡哆醇依赖性癫痫（PDE）和磷酸吡哆醛（PLP）依赖性癫痫患者的电临床特征，以判断其中一些患者是否可被诊断为West综合征，即2个月龄后起病、在癫痫性痉挛发作前无其他类型发作（如局灶性发作）的West综合征。我们分析了一个未发表队列中28例经基因确诊的抗喹啉（ATQ）缺乏型PDE患者的数据，并对文献进行了回顾，以寻找有关ATQ缺乏型PDE或磷酸吡哆（胺）氧化酶（PNPO）缺乏型PLP依赖性癫痫患者中West综合征的描述。在法国ATQ缺乏队列的28例病例中，5例有痉挛发作。其中4例痉挛发作与其他类型发作（肌阵挛、局灶性发作）相关。最后1例在出生当天即开始发作。这些病例均不符合West综合征。文献回顾仅发现1例表现为West综合征的PNPO缺乏病例，未发现ATQ缺乏病例。PDE和PLP依赖性癫痫表现为West综合征极为罕见，因此可能不值得对吡哆醇或PLP进行系统试验。我们建议，如果痉挛发作与其他发作类型相关或在2个月龄前开始发作，可考虑对West综合征患者进行这些维生素的治疗试验。
