Glangher Adelina, Budișteanu Magdalena, Bârcă Diana, Șurlică Dana, Lincă Florentina Ionela, Ioana Doina, Bohîlțea Laurentiu-Camil, Focșa Ina-Ofelia, Iliescu Catrinel
Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Department of Genetics, Faculty of Medicine, Titu Maiorescu University, 031593 Bucharest, Romania.
Diseases. 2025 Mar 22;13(4):91. doi: 10.3390/diseases13040091.
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 gene, and is characterized by long seizures, psychomotor regression, and dyserythropoietic anemia.
In this paper, we present four new cases of EIEE-50, emphasizing the importance of early, specific therapeutic interventions.
Oral uridine 100 mg/kg/day was administrated with improvement of motor and cognitive function as well as immediate seizures control.
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.
癫痫，尤其是早发性和耐药性癫痫，是儿科神经学中的一项重大挑战。代谢性先天性疾病越来越被认为是这些类型癫痫的重要病因。及时诊断和治疗对于预防CAD缺乏症中不可逆的代谢损伤和改善临床结局至关重要。这种疾病是一种由基因双等位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、精神运动发育倒退和骨髓异常增生性贫血。
在本文中，我们介绍了4例EIEE - 50的新病例，强调了早期特异性治疗干预的重要性。
给予口服尿苷100mg/kg/天，运动和认知功能得到改善，癫痫立即得到控制。
我们的研究结果强调了通过及时诊断和针对性治疗策略改善EIEE - 50预后的潜力，强化了补充尿苷作为一种有前景的治疗方法的作用。
