de Jong T, Rijken B F M, Lequin M H, van Veelen M L C, Mathijssen I M J
Department of Plastic and Reconstructive Surgery, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.
Childs Nerv Syst. 2012 Jan;28(1):137-40. doi: 10.1007/s00381-011-1614-7. Epub 2011 Oct 20.
Brain abnormalities in patients with syndromic craniosynostosis can either be a direct result of the genetic defect or develop secondary to compression due to craniosynostosis, raised ICP or hydrocephalus. Today it is unknown whether children with syndromic craniosynostosis have normal brain volumes. The purpose of this study was to evaluate brain and ventricular volume measurements in patients with syndromic and complex craniosynostosis. This knowledge will improve our understanding of brain development and the origin of raised intracranial pressure in syndromic craniosynostosis.
Brain and ventricular volumes were calculated from MRI scans of patients with craniosynostosis, 0.3 to 18.3 years of age. Brain volume was compared to age matched controls from the literature. All patient charts were reviewed to look for possible predictors of brain and ventricular volume.
Total brain volume in syndromic craniosynostosis equals that of normal controls, in the age range of 1 to 12 years. Brain growth occurred particularly in the first 5 years of age, after which it stabilized. Within the studied population, ventricular volume was significantly larger in Apert syndrome compared to all other syndromes and in patients with a Chiari I malformation.
Patients with syndromic craniosynostosis have a normal total brain volume compared to normal controls. Increased ventricular volume is associated with Apert syndrome and Chiari I malformations, which is most commonly found in Crouzon syndrome. We advice screening of all patients with Apert and Crouzon syndrome for the development of enlarged ventricle volume and the presence of a Chiari I malformation.
综合征性颅缝早闭患者的脑部异常可能是基因缺陷的直接结果，也可能继发于颅缝早闭、颅内压升高或脑积水引起的压迫。目前尚不清楚综合征性颅缝早闭患儿的脑容量是否正常。本研究的目的是评估综合征性和复杂性颅缝早闭患者的脑和脑室容量测量情况。这一认识将增进我们对综合征性颅缝早闭患者脑发育及颅内压升高原因的理解。
通过对年龄在0.3至18.3岁的颅缝早闭患者的MRI扫描计算脑和脑室容量。将脑容量与文献中年龄匹配的对照组进行比较。回顾所有患者病历以寻找脑和脑室容量的可能预测因素。
在1至12岁的年龄范围内，综合征性颅缝早闭患者的总脑容量与正常对照组相等。脑生长尤其发生在5岁之前，之后趋于稳定。在研究人群中，与所有其他综合征相比，Apert综合征患者以及患有Chiari I畸形的患者脑室容量显著更大。
与正常对照组相比，综合征性颅缝早闭患者的总脑容量正常。脑室容量增加与Apert综合征和Chiari I畸形相关，后者在Crouzon综合征中最为常见。我们建议对所有Apert和Crouzon综合征患者进行筛查，以了解是否存在脑室扩大及Chiari I畸形。
