Neurodevelopmental disorders (NDDs) refer to a group of often severe pediatric conditions associated with impaired cognitive, sensory, and/or motor functions stemming from atypical development of the central nervous system. Although the recent development of genetic diagnostic tools, such as exome sequencing, has highlighted the prevalence of genetic anomalies in NDDs, the broad and variable and, at times, evolving clinical manifestations can render their prompt diagnosis difficult.

Recently, de novo mutations in the CSNK2A1 gene, encoding for the alpha subunit of the casein kinase 2, have been found to cause a novel NDD with multisystemic involvement, termed Okur-Chung disease (MIM 617062). Clinical features include intellectual disability, microcephaly, hypotonia, and ataxia, with high inter-subject variability [1,2,3]. Here we report, to our knowledge for the first time, a pediatric patient carrier of a “de novo” mutation in the CSNK2A1 gene initially presenting with isolated retinal dystrophy.

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