| Autor: |
Nisha, Korakavi, Caleb, Bupp, Bethany, Grysko, Jane, Juusola, Chelsea, Borta, Casey, Madura |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 38(1) |
| ISSN: |
1433-0350 |
| Popis: |
A nonverbal 3-year-old male with a complex past medical history was referred to pediatric neurosurgery for evaluation of Chiari I malformation. A full clinical evaluation suggested that the "Chiari" was a secondary change caused by craniocerebral disproportion that was the result of delayed pan-sutural craniosynostosis. Given his unknown cause of craniosynostosis, whole-exome sequencing (WES) was performed. WES revealed a de novo, somatic mosaic variant in the KAT6A gene. This report discusses importance of keeping a broad differential in the setting of referral for Chiari I malformation and presents a unique case of craniosynostosis. Additionally, it emphasizes the value of utilizing genetic testing for complex craniofacial cases with unknown causes to provide clinical answers and guide clinical management. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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