Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, 450052, People's Republic of China.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, 450052, People's Republic of China.
Seizure. 2018 May;58:6-8. doi: 10.1016/j.seizure.2018.03.017. Epub 2018 Mar 20.
Hyperekplexia (HPX) or startle disease is a rare hereditary neurological disorder characterized by generalized stiffness, excessive startle reflex to unexpected stimuli and a short period of generalized stiffness following the startle response, and can be complicated by umbilical or inguinal hernia, developmental delay and apnea spell. HPX is caused mainly by mutations in the GLRA1 gene, and has a good response to clonazepam. In this short communication we describe an 11-year-old girl with excessive startle reflex, weird laughing and developmental delay since early infancy. She also suffered from infantile spasms and generalized tonic-clonic seizures, and became seizure-free with antiepileptic drugs treatment. However, the weird laughing was still present during the treatment. Her mother also appeared excessive startle reflex during early infancy. A novel mutation in GLRA1 was detected in the girl and her mother. Consequently, she was diagnosed with HPX, and clonazepam was added. The weird laughing was dramatic improved, which hasn't been reported in HPX. This is the first report of weird laughing in a hyperekplexia patient carrying a novel GLRA1 mutation, and expanded the phenotype spectrum of HPX.
发作性过度运动（HPX）或惊吓病是一种罕见的遗传性神经疾病，其特征为全身僵硬、对意外刺激过度惊吓反射，以及惊吓反应后出现短暂的全身僵硬，并可伴有脐疝或腹股沟疝、发育迟缓及呼吸暂停。HPX 主要由 GLRA1 基因突变引起，对氯硝西泮反应良好。在这篇简短的交流中，我们描述了一名 11 岁女孩，她从婴儿早期开始就有过度惊吓反射、怪笑和发育迟缓。她还患有婴儿痉挛和全面强直阵挛发作，抗癫痫药物治疗后发作停止。然而，在治疗过程中，怪笑仍然存在。她的母亲在婴儿早期也出现了过度惊吓反射。在女孩和她的母亲中检测到 GLRA1 的新突变。因此，她被诊断为 HPX，并加用氯硝西泮。怪笑明显改善，这在 HPX 中尚未报道。这是首例携带 GLRA1 新突变的发作性过度运动患者出现怪笑的报告，并扩展了 HPX 的表型谱。
