Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series.

IF 2.9 Q2 MEDICINE, RESEARCH & EXPERIMENTAL

Diseases (Basel, Switzerland) Pub Date : 2025-03-22 DOI:10.3390/diseases13040091

Adelina Glangher, Magdalena Budișteanu, Diana Bârcă, Dana Șurlică, Florentina Ionela Lincă, Doina Ioana, Laurentiu-Camil Bohîlțea, Ina-Ofelia Focșa, Catrinel Iliescu

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Abstract

Background: Epilepsy, particularly early-onset and drug-resistant forms, presents a significant challenge in pediatric neurology. Inborn errors of metabolism are increasingly recognized as important contributors to these types of epilepsy. Timely diagnosis and treatment are crucial in preventing irreversible metabolic damage and improving clinical outcomes in CAD deficiency. This condition is a progressive and severe metabolic disorder caused by biallelic deleterious variants in CAD gene, and is characterized by long seizures, psychomotor regression, and dyserythropoietic anemia.

Methods: In this paper, we present four new cases of EIEE-50, emphasizing the importance of early, specific therapeutic interventions.

Results: Oral uridine 100 mg/kg/day was administrated with improvement of motor and cognitive function as well as immediate seizures control.

Conclusions: Our findings underscore the potential for improved outcomes of EIEE-50 trought timely diagnosis and targeted treatment strategies, reinforcing the role of uridine supplementation as a promising therapeutic approach.

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与CAD有害变异相关的癫痫性脑病-一个病例系列。

背景：癫痫，特别是早发和耐药形式，是儿科神经病学的一个重大挑战。越来越多的人认识到，先天性代谢错误是导致这些类型癫痫的重要因素。及时诊断和治疗对于预防不可逆代谢损伤和改善CAD缺乏症的临床结果至关重要。该病是由CAD基因双等位基因有害变异引起的进行性严重代谢紊乱，其特征为长时间癫痫发作、精神运动性减退和促红细胞生成性贫血。方法：在本文中，我们报告了四例新的eee -50病例，强调了早期特异性治疗干预的重要性。结果：口服尿苷100 mg/kg/d可改善运动和认知功能，并可立即控制癫痫发作。结论：我们的研究结果强调了通过及时诊断和靶向治疗策略改善eee -50预后的潜力，加强了尿苷补充作为一种有前景的治疗方法的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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