Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.

IF 1.7 4区医学 Q2 PEDIATRICS

Indian pediatrics Pub Date : 2025-04-02 DOI:10.1007/s13312-025-00061-1

Vykuntaraju K Gowda, Prafful Gowda, Varunvenkat M Srinivasan, Udhav Kinhal, Hemadri Vegda, Viveka-Santhosh Reddy

{"title":"Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.","authors":"Vykuntaraju K Gowda, Prafful Gowda, Varunvenkat M Srinivasan, Udhav Kinhal, Hemadri Vegda, Viveka-Santhosh Reddy","doi":"10.1007/s13312-025-00061-1","DOIUrl":null,"url":null,"abstract":"Objective: To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).Methods: Retrospective chart reviews of all children with a genetically confirmed diagnosis of PDE between April 2012 and March 2024 were included; clinical and laboratory data were analyzed.Results: Twenty-two children (13 boys) were diagnosed with PDE and all presented with seizures and encephalopathy. Oculogyric crisis was observed in majority (n = 20, 91%) cases. Variants were identified in ALDH7A1 (17), PLPBP (4), and PNPO (1) genes in the current cohort. One child expired within 24 h of initiation of pyridoxine. Another child had refractory seizures, two had epileptic spasms and seven had provoked seizures. Autistic features were noted in two and attention deficit hyperactivity disorder (ADHD) in 15 children.Conclusion: Seizures, encephalopathy, and oculogyric crisis help are clinical cues to aid in early diagnosis of PDE. PDE may be associated with comorbidities like autism and ADHD.","PeriodicalId":13291,"journal":{"name":"Indian pediatrics","volume":" ","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s13312-025-00061-1","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).

Methods: Retrospective chart reviews of all children with a genetically confirmed diagnosis of PDE between April 2012 and March 2024 were included; clinical and laboratory data were analyzed.

Results: Twenty-two children (13 boys) were diagnosed with PDE and all presented with seizures and encephalopathy. Oculogyric crisis was observed in majority (n = 20, 91%) cases. Variants were identified in ALDH7A1 (17), PLPBP (4), and PNPO (1) genes in the current cohort. One child expired within 24 h of initiation of pyridoxine. Another child had refractory seizures, two had epileptic spasms and seven had provoked seizures. Autistic features were noted in two and attention deficit hyperactivity disorder (ADHD) in 15 children.

Conclusion: Seizures, encephalopathy, and oculogyric crisis help are clinical cues to aid in early diagnosis of PDE. PDE may be associated with comorbidities like autism and ADHD.

查看原文本刊更多论文

吡哆醇依赖性癫痫（PDE）儿童的临床特征、基因型和结局：来自印度南部的单中心经验。

目的：描述印度儿童吡哆醇依赖性癫痫（PDE）的临床、实验室和预后。方法：回顾性分析2012年4月至2024年3月间所有遗传确诊为PDE的儿童；对临床和实验室资料进行分析。结果：22名儿童（13名男孩）被诊断为PDE，所有儿童均表现为癫痫发作和脑病。大多数病例（n = 20.91%）出现眼危象。在当前队列中发现了ALDH7A1（17）、PLPBP(4)和PNPO(1)基因的变异。1例患儿在使用吡哆醇后24小时内死亡。另一名儿童难治性癫痫发作，两名癫痫痉挛，七名诱发性癫痫发作。其中2名儿童有自闭症特征，15名儿童有注意缺陷多动障碍（ADHD）。结论：癫痫发作、脑病和眼部危象有助于PDE的早期诊断。PDE可能与自闭症和ADHD等共病有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Indian pediatrics 医学-小儿科

CiteScore

3.30

自引率

8.70%

发文量

344

审稿时长

3-8 weeks

期刊介绍： The general objective of Indian Pediatrics is "To promote the science and practice of Pediatrics." An important guiding principle has been the simultaneous need to inform, educate and entertain the target audience. The specific key objectives are: -To publish original, relevant, well researched peer reviewed articles on issues related to child health. -To provide continuing education to support informed clinical decisions and research. -To foster responsible and balanced debate on controversial issues that affect child health, including non-clinical areas such as medical education, ethics, law, environment and economics. -To achieve the highest level of ethical medical journalism and to produce a publication that is timely, credible and enjoyable to read.