Slit Ventricle Syndrome

Abstract

patients improved their headaches and impulsive behaviour. 3 Likewise, in our current case, the patient showed significantly improved gross motor, speech and language development after cranial expansion surgery. Cranial vault reconstruction should be considered to facilitate and improve the outcome of WS with craniosynostosis.Genetically, around 28 genes on the Williams-Beuren syndrome region (OMIM 194050) in chromosome 7q11.23 have been missing. 10 The most common gene contributing to WS cardiovascular pathology is known to be the elastin (ELN) gene. 4 Regarding neurocranial abnormalities, the general transcription factor II I repeat domain-containing 1 (GTF2IRD1) gene, playing a role as a transcription factor, has been implicated in the craniofacial features of WS. 10,11 The GTF2IRD1 has been reported to be linked with the suppression of RUNX2, one of the most common factors in cranial suture closure, especially in parietal bone integration. 12 For our case, the targeted gene analysis did not test in GTF2IRD1. Thus, it could not explain this current index's causative link to craniosynostosis. Still, it is so essential that further genetic-related phenotypic studies should be organised to better understand the linkage of genotype and phenotype in WS. CONCLUSIONSSurgical release of the abnormally fused cranial suture is advocated in WS children with low anaesthetic risks. We recommend screening CT and magnetic resonance imaging studies to evaluate both parenchymal and calvarial abnormalities in WS. Multidisciplinary team care is mandated in WS management.