Objective: To summarize the clinical diagnosis

treatment and genetic characteristics of a case of neonatal hyperekplexia and improve the understanding of the disease. Methods: The clinical diagnosis

treatment and follow-up process of a child with hyperekplexia admitted into our hospital in Jul. 2019 were summarized. From CNKI

PubMed and Wanfang database

the retrieval time was from the establishment of the database to Feb. 2020

and the cases of hyperekplexia with GLRA gene mutation at home and abroad were summarized and analyzed. Results: A newborn boy was admitted for “postnatal increased muscle tone

sharp and monotonous cry

accompanied by startle”

and the symptoms persisted nearly every day. Physical examination revealed positive dot nose test and increased muscle tone. Laboratory examination

electroencephalography and neuroimaging examination showed no obvious abnormalities

and the diagnosis of hyperekplexia was made. Genetic analysis revealed GLRA1 gene mutation

and the child was a new mutation. The child was treated with oral clonazepam

and the above symptoms were relieved after 2 weeks of treatment. At the last follow-up

the child was over 7 months of age and cried like the normal child of the same age

and did not show any signs of startle or general stiffness. Conclusion: Positive dot nose test is important for initial screening of hyperekplexia

and genetic testing can be used for further confirmation.