Nine de Planque

22 Chapter 1 Aim and outline of this thesis The aim of this thesis is to get more understanding about the extent and the origin of brain abnormalities in children with craniosynostosis by using brain imaging. Specifically, the potential effect of mechanical causes due to shape and pressure are addressed and compared to intrinsic or genetic causes in isolated and syndromic synostosis before and after treatment. Part I Brain imaging in non-operated infants with isolated and syndromic craniosynostosis Arterial spin labeling (ASL) is a MRI technique which could be used to measure the absolute brain perfusion. In Chapter 2 a new approach of using ASL on trigonocephaly patients will be validated. In Chapter 3 blood perfusion of the frontal lobe in nonoperated trigonocephaly patients is analyzed. In Chapter 4 we respond on a letter to the editor focused on the ASL article. The microstructural properties of the frontal lobe of non-operated patients with trigonocephaly patients will be assessed in comparison to controls in Chapter 5. Chapter 6 the microstructural characteristics of the nonoperated syndromic craniosynostosis brain are described. By diffusion tensor imaging (DTI) fiber tractography diffusion parameters of multiple white matter tracts between craniosynostosis patients in comparison to controls are evaluated. Part II Brain imaging during follow-up of operated children with isolated and syndromic craniosynostosis Chapter 7 assesses the cortical thickness of the brain in Crouzon syndrome after surgical treatment. In Chapter 8 the interaction of ventriculomegaly and cerebellar tonsillar position over time and the association between abnormal anatomy of the skull base and cerebellar tonsillar position are investigated. Chapter 9 dives into the rare and severe course of patients with Crouzon syndrome and acanthosis nigricans. Treatment protocols of three international centers are reviewed in this cohort.

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