93 Microstructures | Syndromic Craniosynostosis INTRODUCTION Patients with syndromic craniosynostosis (sCS) are at risk of developing intellectual disabilities and problems in behavioural and emotional function. Whether these derangements are caused by disturbances in brain development is unknown.1 Mutations in genes encoding the fibroblast growth factor receptors (FGFR) – which are expressed during early embryonic development – are known to be responsible for the pattern of abnormal skull development in sCS.2, 3 These gene mutations induce premature fusion of skull sutures and also affect the development of brain tissue and CSF circulation.4-6 It is known that mutations in FGFR-1 or FGFR-2 are associated with decreased myelin thickness,7 but is this finding a consequence of mechanical distortion of the brain due to abnormal shape, ventriculomegaly and/or cerebellar tonsillar herniation, or does this finding reflect an intrinsic cause?8-11 12, 13 Previously, we have reported abnormalities in brain white matter microstructure using MRI DTI in a group of operated sCS patients aged 7 to 15 years. We identified significantly higher white matter mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) in the cingulate bundle, corpus callosum and cortical spinal tract.14 These findings suggested the presence of abnormal white matter microstructural tissue properties in sCS patients and now lead us to the purpose of our study: 1) Are these abnormalities already present in young non-operated sCS patients? 2) If so, does it reflect exposure to some mechanically related cause like worsening ventriculomegaly or does such an abnormality have an intrinsic cause? We hypothesize that abnormalities in white matter architecture are already evident in non-operated children with syndromic craniosynostosis. To test our hypothesis, we used DTI based tracts in young non-operated children with sCS. 6
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