Santos Beatriz Salimon Carlos Dos, Mattos João Pedro Garcia de, Juliano Laura Souza, Souza Rodrigo Rigoleto de, Marinho César Antônio Franco
Centro Universitário de Adamantina, Adamantina, SP, Brazil.
Rev Paul Pediatr. 2025 Mar 24;43:e2024189. doi: 10.1590/1984-0462/2025/43/2024189. eCollection 2025.
To report two pediatric cases of hyperekplexia in a small city of São Paulo state, Brazil.
Two female patients, one aged three years and six months and one aged five months, receiving care from an APAE (Association of Parents and Friends of People with Disabilities) unit, were diagnosed with hyperekplexia 1, a neurological disorder characterized by an excessive startle response. Hyperekplexia cases can be divided into three subgroups: hereditary, sporadic, and symptomatic. Several specialists have examined patient 1 since she was three weeks old, leading to two initial diagnostic hypotheses (childhood chronic non-progressive encephalopathy and spastic cerebral palsy). She was diagnosed with hyperekplexia 1 at eleven months when a genetic test revealed changes in the GLRA1 gene. Patient 2, at birth, presented hyperextension of both legs, low-set ears, cranial asymmetry, prominent occiput, and tremors in the lower limbs. After several tests and evaluations, the final diagnosis was confirmed at three months old. Her family history indicates the possibility of hereditary hyperekplexia.
The cases were compared with information obtained through a bibliographical review. Both patients presented several symptoms associated with hyperekplexia, including neurological symptoms such as increased startle response, convulsions, and hypertonia, which were alleviated with appropriate treatment. So far, combining multidisciplinary assistance with drug treatment, particularly anxiolytics and anticonvulsants, with clonazepam being the most used, has significantly contributed to both patients' improved quality of life. However, physical symptoms, such as hip dislocation and clubfoot, require future surgical intervention.
报告巴西圣保罗州一个小城市的两例小儿僵人综合征病例。
两名女性患者，一名三岁六个月，一名五个月大，在一家APAE（残疾人父母和朋友协会）机构接受护理，被诊断为僵人综合征1型，这是一种以过度惊吓反应为特征的神经系统疾病。僵人综合征病例可分为三个亚组：遗传性、散发性和症状性。自患者1三周大以来，几位专家对其进行了检查，得出了两个初步诊断假设（儿童慢性非进行性脑病和痉挛性脑瘫）。当基因检测显示GLRA1基因发生变化时，她在11个月大时被诊断为僵人综合征1型。患者2出生时出现双腿过度伸展、耳朵低位、颅骨不对称、枕部突出以及下肢震颤。经过多次检查和评估，最终诊断在三个月大时得到确认。她的家族病史表明存在遗传性僵人综合征的可能性。
将这些病例与通过文献综述获得的信息进行了比较。两名患者均出现了与僵人综合征相关的多种症状，包括神经系统症状，如惊吓反应增强、抽搐和张力亢进，经过适当治疗后这些症状有所缓解。到目前为止，多学科援助与药物治疗相结合，特别是使用抗焦虑药和抗惊厥药，其中氯硝西泮使用最为频繁，这对两名患者生活质量的改善起到了显著作用。然而，诸如髋关节脱位和马蹄内翻足等身体症状需要未来进行手术干预。
