| Autor: |
Matheus V. M. B Wilke, Bibiana M. Oliveira, Alessandra Pereira, Maria Juliana R. Doriqui, Fernando Kok, Carolina F. M. Souza |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1752-1947 |
| DOI: |
10.1186/s13256-021-03184-8 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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