Vykuntaraju K Gowda, Prafful Gowda, Varunvenkat M Srinivasan, Udhav Kinhal, Hemadri Vegda, Viveka-Santhosh Reddy
{"title":"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。","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":"<p><strong>Objective: </strong>To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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":"{\"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\":\"<p><strong>Objective: </strong>To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"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}","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}
Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.
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.
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.
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