Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies. This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years. Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months. Comprehensive clinical evaluation and neuroimaging revealed structural-acquired causes as the most common etiology. Notably, inborn errors of metabolism were identified in 5.4 % of cases, with six distinct diagnoses including nonketotic hyperglycinemia, pyridoxine-dependent epilepsy, primary coenzyme Q10 deficiency 7, congenital disorder of glycosylation type IIM, 6-pyruvoyl tetrahydrobiopterin synthase deficiency, and argininosuccinate lyase deficiency. The prevalence of inborn errors of metabolism in this cohort was consistent with global variations reported in the literature. Genetic testing, including karyotype analysis and whole exome sequencing, was performed in a subset of cases with no clear diagnosis, revealing abnormalities in approximately 50 % of cases. Adrenocorticotropic hormone emerged as the most frequently prescribed antiseizure medication. This study provides insight into the diagnostic challenges associated with IESS and highlights the importance of metabolic investigations, especially in cases without a clear etiology. The findings emphasize the need for further genetic and metabolic studies to enhance prognostic accuracy and guide potential treatment options for children with IESS, particularly in populations with high rates of consanguinity.

中文翻译：

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婴儿癫痫痉挛综合征儿童的代谢病因：三级儿科神经病学中心的经验

婴儿癫痫痉挛综合征 (IESS)，包括 West 综合征 (WS) 和婴儿痉挛症 (IS)，导致预后具有挑战性，特别是与代谢病因相关时。这项研究在一家三级儿科神经病学中心进行，探讨了 112 名 IESS 儿童 10 年来先天性代谢缺陷的患病率和临床特征。大多数患者出现癫痫发作，主要是屈肌痉挛，中位发病年龄为 5 个月。综合临床评估和神经影像学显示结构性获得性原因是最常见的病因。值得注意的是，5.4% 的病例中发现了先天性代谢错误，有六种不同的诊断，包括非酮性高甘氨酸血症、吡哆醇依赖性癫痫、初级辅酶 Q10 缺乏症 7、先天性糖基化障碍 IIM、6-丙酮酰四氢生物蝶呤合酶缺乏症和精氨基琥珀酸裂合酶不足。该队列中先天性代谢缺陷的患病率与文献报道的全球变化一致。对部分没有明确诊断的病例进行了基因检测，包括核型分析和全外显子组测序，揭示了大约 50% 的病例存在异常。促肾上腺皮质激素成为最常用的抗癫痫药物。这项研究深入了解了 IESS 相关的诊断挑战，并强调了代谢研究的重要性，特别是在没有明确病因的情况下。研究结果强调需要进一步进行遗传和代谢研究，以提高 IESS 儿童的预后准确性并指导潜在的治疗选择，特别是在近亲结婚率高的人群中。