Dias Freitas Filipa, Cavaco Raposo Sofia, Luis Nogueira Augusto
Department of Family Medicine, Unidade de Cuidados de Saúde Personalizados (UCSP), Azambuja, PRT.
Department of Family Medicine, Unidade de Saúde Familiar (USF) Reynaldo dos Santos, Póvoa de Santa Iria, PRT.
Cureus. 2022 Nov 24;14(11):e31848. doi: 10.7759/cureus.31848. eCollection 2022 Nov.
West syndrome (WS), also known as infantile spasms, is a severe form of epileptic disorder of infancy and early childhood. It was first described by William West in 1841. Children with WS exhibit a triad of myoclonic-tonic seizures (spasms), a distinct electroencephalogram (EEG) pattern known as hypsarrhythmia and psychomotor development arrest. WS is classified into three main categories as symptomatic, idiopathic and cryptogenic based on etiological factors. The long-term prognosis depends on the etiological cause, but generally has a poor prognosis, and is associated with impaired development, neurologic structural anomalies, autism spectrum disorder and death. Treatment guidelines from the American Academy of Neurology and Child Neurology Society recommend that adrenocorticotropic hormone (ACTH) and vigabatrin are possibly effective in the cessation of spasms and hypsarrhythmia. We report an incidental diagnosis of WS in a six-month-old male baby that went to the Pediatric Emergency Department due to upper respiratory tract symptoms. The diagnosis was made after the development of spasms during a medical examination. This case highlights the importance of early diagnosis, parental education and prompt effective treatment as it may improve prognosis.
韦斯特综合征(WS),也称为婴儿痉挛症,是婴幼儿期严重的癫痫性疾病。它于1841年由威廉·韦斯特首次描述。患有WS的儿童表现出肌阵挛 - 强直发作(痉挛)、一种称为高峰失律的独特脑电图(EEG)模式以及精神运动发育停滞三联征。根据病因,WS主要分为症状性、特发性和隐源性三大类。长期预后取决于病因,但总体预后较差,且与发育受损、神经结构异常、自闭症谱系障碍及死亡相关。美国神经病学学会和儿童神经病学协会的治疗指南建议,促肾上腺皮质激素(ACTH)和氨己烯酸可能对停止痉挛和高峰失律有效。我们报告了一例6个月大男婴因上呼吸道症状前往儿科急诊科而偶然诊断出WS的病例。该诊断是在体格检查期间出现痉挛后做出的。该病例强调了早期诊断、家长教育及及时有效治疗的重要性,因为这可能改善预后。