Korakavi Nisha, Bupp Caleb, Grysko Bethany, Juusola Jane, Borta Chelsea, Madura Casey
Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, 49503, USA.
Spectrum Health Medical Genetics, Grand Rapids, MI, 49503, USA.
Childs Nerv Syst. 2022 Jan;38(1):173-177. doi: 10.1007/s00381-021-05111-0. Epub 2021 Mar 26.
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.
一名有复杂既往病史的3岁非言语男性因 Chiari I 畸形接受评估而被转诊至小儿神经外科。全面的临床评估表明，“Chiari”是由全颅缝早闭延迟导致的颅脑比例失调引起的继发性改变。鉴于其颅缝早闭的病因不明，遂进行了全外显子组测序（WES）。WES 显示 KAT6A 基因存在一个新生的体细胞镶嵌变异。本报告讨论了在 Chiari I 畸形转诊时保持广泛鉴别诊断的重要性，并呈现了一例独特的颅缝早闭病例。此外，它强调了对病因不明的复杂颅面病例进行基因检测以提供临床答案并指导临床管理的价值。
