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Open Access 01-12-2022 | Epilepsy | Case report

Two different presentations of de novo variants of CSNK2B: two case reports

Authors: Matheus V. M. B Wilke, Bibiana M. Oliveira, Alessandra Pereira, Maria Juliana R. Doriqui, Fernando Kok, Carolina F. M. Souza

Published in: Journal of Medical Case Reports | Issue 1/2022

Abstract

Background

Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature.

Objective

To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases.

Case report

Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly.

Conclusion

This report suggest that the CSNK2B gene may be involved in the physiopathology of neurodevelopmental disorders and variable dysmorphic features.

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Title: Two different presentations of de novo variants of CSNK2B: two case reports
Authors: Matheus V. M. B Wilke
Bibiana M. Oliveira
Alessandra Pereira
Maria Juliana R. Doriqui
Fernando Kok
Carolina F. M. Souza
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Epilepsy
Published in: Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-021-03184-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Two different presentations of de novo variants of CSNK2B: two case reports

Abstract

Background

Objective

Case report

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Objective

Case report

Conclusion

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