QQ Zhao, H Wei, Y Hu

Abstract

Background: Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare mendelian disease related to the CSNK2A1 gene variant. So far, there is no report of confirmed case in the neonatal period. Methods: The clinical characteristics and importance in early diagnosis of genetic testing in a newborn with OCNDS were retrospectively reported. Findings: A 14-day-old, female, and full-term neonate characterised by the poor response, weak low cry, congenital heart disease, and special facial features was referred to our Neonatal Intensive Care Unit. This patient was confirmed to carry one novel variant in the CSNK2A1 gene (p.K198T) with whole-exome sequencing testing. This variant was classified as pathogenic and the cause of the presentation in this neonate. Conclusions: It is very necessary for a neonate with poor response and long-time weak low cry if routine examinations show no definite findings to make a genetic diagnosis as early as possible.