Spazzapan Peter, Velnar Tomaz
Department of Neurosurgery, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Alma Mater Europaea ECM, 2000 Maribor, Slovenia.
Diagnostics (Basel). 2024 Feb 16;14(4):435. doi: 10.3390/diagnostics14040435.
Sagittal craniosynostosis, a rare but fascinating craniofacial anomaly, presents a unique challenge for both diagnosis and treatment. This condition involves premature fusion of the sagittal suture, which alters the normal growth pattern of the skull and can affect neurological development. Sagittal craniosynostosis is characterised by a pronounced head shape, often referred to as scaphocephaly. Asymmetry of the face and head, protrusion of the fontanel, and increased intracranial pressure are common clinical manifestations. Early recognition of these features is crucial for early intervention, and understanding the aetiology is, therefore, essential. Although the exact cause remains unclear, genetic factors are thought to play an important role. Mutations in genes such as FGFR2 and FGFR3, which disrupt the normal development of the skull, are suspected. Environmental factors and various insults during pregnancy can also contribute to the occurrence of the disease. An accurate diagnosis is crucial for treatment. Imaging studies such as ultrasound, computed tomography, magnetic resonance imaging, and three-dimensional reconstructions play a crucial role in visualising the prematurely fused sagittal suture. Clinicians also rely on a physical examination and medical history to confirm the diagnosis. Early detection allows for quick intervention and better treatment outcomes. The treatment of sagittal craniosynostosis requires a multidisciplinary approach that includes neurosurgery, craniofacial surgery, and paediatric care. Traditional treatment consists of an open reconstruction of the cranial vault, where the fused suture is surgically released to allow normal growth of the skull. However, advances in minimally invasive techniques, such as endoscopic strip craniectomy, are becoming increasingly popular due to their lower morbidity and shorter recovery times. This review aims to provide a comprehensive overview of sagittal craniosynostosis, highlighting the aetiology, clinical presentation, diagnostic methods, and current treatment options.
矢状缝早闭是一种罕见但引人关注的颅面畸形,对诊断和治疗都提出了独特的挑战。这种病症涉及矢状缝过早融合,这会改变颅骨的正常生长模式,并可能影响神经发育。矢状缝早闭的特征是头部形状明显异常,通常称为舟状头畸形。面部和头部不对称、囟门突出以及颅内压升高是常见的临床表现。早期识别这些特征对于早期干预至关重要,因此了解病因至关重要。虽然确切病因尚不清楚,但遗传因素被认为起着重要作用。怀疑FGFR2和FGFR3等基因发生突变,这些突变会破坏颅骨的正常发育。孕期的环境因素和各种不良影响也可能导致该病的发生。准确的诊断对治疗至关重要。超声、计算机断层扫描、磁共振成像和三维重建等影像学检查在显示过早融合的矢状缝方面起着关键作用。临床医生还依靠体格检查和病史来确诊。早期发现可实现快速干预并取得更好的治疗效果。矢状缝早闭的治疗需要多学科方法,包括神经外科、颅面外科和儿科护理。传统治疗包括颅骨穹窿的开放重建,即通过手术松解融合的缝线,以使颅骨正常生长。然而,微创技术的进展,如内镜下条带颅骨切除术,因其发病率较低和恢复时间较短而越来越受欢迎。本综述旨在全面概述矢状缝早闭,重点介绍病因、临床表现、诊断方法和当前的治疗选择。