RESUMO
Objective:To investigate the clinical characteristics, diagnosis and treatment status, and existing problems of early infantile epileptic encephalopathy type 2 (EIEE2) caused by de novoa mutation of cyclin-dependent kinase-like 5 gene (CDKL5).Methods:The medical history, auxiliary examination and diagnosis and treatment characteristics of 1 case with EIEE2 caused by de novoa mutation of CDKL5 gene in neonatal department of Children′s Hospital of Nanjing Medical University on August 12, 2019 were retrospectively analyzed.Combined with relevant literatures, the clinical diagnosis and treatment ideas and future prospects of this disease were summarized.Results:The patient was a female child with the age of 13 days and 23 hours.The main clinical manifestation was recurrent convulsion which was not alleviated significantly after using antiepileptic drug.The second-generation sequencing detected c. 119C>T/ p. A40V heterozygous mutation of CDKL5 gene, which was de novo mutation.Conclusions:EIEE2 caused by de novoa mutation of CDKL5 gene is a rare disease worthy of attention.Early detection and genetic diagnosis are the key to improve the diagnosis and treatment rate.