Szczupak Mateusz, Wierzchowska Jolanta, Cimoszko-Zauliczna Maria, Kobak Jacek, Kosydar-Bochenek Justyna, Radys Wojciech, Szlagatys-Sidorkiewicz Agnieszka, Religa Dorota, Krupa-Nurcek Sabina
Department of Anesthesiology and Intensive Care, Copernicus Hospital in Gdańsk, Gdańsk, Poland.
Department of Otolaryngology, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland.
Front Neurol. 2024 Dec 6;15:1477982. doi: 10.3389/fneur.2024.1477982. eCollection 2024.
Pain is an unpleasant sensory and emotional experience, influenced by various factors. Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition characterized by sudden bouts of pain accompanied by autonomic symptoms.
This manuscript presents the case of a 9-year-old boy with paroxysmal extreme pain syndrome and provides a review of the literature. Additionally, a genealogical analysis of the boy's family was conducted to determine the total number of affected family members. The clinical data included an analysis of genetic tests to identify the mutation confirming PEPD.
A mutation in the SCN9A gene causes the disease, and due to the small number of patients worldwide (around 500, according to literature reports), an effective method of preventing extreme pain attacks had not been established at the time of writing this manuscript. Based on information from scientific sources and the authors' experiences, it can be firmly stated that various, often difficult-to-identify factors cause paroxysmal extreme pain. This syndrome necessitates further research and the exploration of effective treatment methods.
疼痛是一种不愉快的感觉和情感体验，受多种因素影响。阵发性剧痛障碍（PEPD）是一种罕见的遗传性疾病，其特征为突然发作的疼痛并伴有自主神经症状。
本文介绍了一名患有阵发性剧痛综合征的9岁男孩的病例，并对相关文献进行了综述。此外，对该男孩的家族进行了系谱分析，以确定受影响家庭成员的总数。临床数据包括对基因检测的分析，以识别确认PEPD的突变。
SCN9A基因突变导致该疾病，由于全球患者数量较少（根据文献报道约为500例），在撰写本文时，尚未建立预防剧痛发作的有效方法。根据科学资料和作者的经验，可以确定，多种往往难以识别的因素会导致阵发性剧痛。这种综合征需要进一步研究并探索有效的治疗方法。
