An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma

抄録

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.