Baba Natsumi, Kawataki Tomoyuki, Taketani Takeshi, Kinouchi Hiroyuki
Department of Neurosurgery, Kofu City Hospital, Kofu, Yamanashi, Japan.
Department of Neurosurgery, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo, Yamanashi, Japan.
NMC Case Rep J. 2024 Aug 30;11:237-241. doi: 10.2176/jns-nmc.2024-0088. eCollection 2024.
Hyperekplexia is a rare neurological disorder that is characterized by an excessive startle response to unexpected stimuli. Recently, heterogeneous causative genes have been identified. Most cases are diagnosed during the neonatal period from hypertonia or stiffness. Adult cases are relatively rare and can cause severe head injury, but they are often misdiagnosed, typically as epilepsy or psychiatric disorders, due to the rarity of the pathology. This report describes a genetically confirmed case of hyperekplexia in an adult with head trauma, highlighting the features of head trauma and discussing potential pitfalls in the diagnosis of adult patients with hyperekplexia.
僵人综合征是一种罕见的神经系统疾病，其特征是对意外刺激产生过度惊吓反应。最近，已鉴定出多种致病基因。大多数病例在新生儿期因肌张力亢进或僵硬而被诊断出来。成人病例相对罕见，可导致严重头部损伤，但由于该病病理罕见，常被误诊，通常误诊为癫痫或精神障碍。本报告描述了一例经基因确诊的成人僵人综合征合并头部外伤病例，突出了头部外伤的特征，并讨论了成人僵人综合征患者诊断中可能存在的陷阱。
