Papilledema in Isolated Single-Suture Craniosynostosis: Prevalence and Predictive Factors

The purpose of this retrospective study was to assess the prevalence of papilledema in patients with isolated craniosynostosis. Second, we wanted to assess if the presence of ventricular dilatation on Computed tomography (CT) scan is a predictive factor for the occurrence of papilledema. We included 205 consecutive children with an isolated single-suture craniosynostosis, who had at least 1 fundus examination. Preoperative CT scans of the brain were examined for the presence of ventricular dilatation. Papilledema developed in 14 of 205 patients: 10 developed papilledema before surgery and 4 during the follow-up period. Ten of the patients with papilledema had a synostosis of the sagittal suture, and 4 of the metopic suture. Prevalence of papilledema in scaphocephaly was 9.7%, and in trigonocephaly, 5.6%. Based on evaluation of all CT scans, ventricular dilatation seemed not to be a predictive factor for papilledema in children with isolated craniosynostosis. The incidence of papilledema in almost 10% of scaphocephaly patients is remarkably higher than expected. Therefore, we recommend routine preoperative screening, especially for patients with scaphocephaly, but also for patients with trigonocephaly. Postoperative screening is recommended in all patients when there is any uncertainty

Boston Type Craniosynostosis: Report of a Second Mutation in MSX2

We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra-cranial features. Linkage analysis and genome sequencing were performed to identify the underlying genetic mutation. A c.443C>T missense mutation in MSX2, which predicts p.Pro148Leu was identified and segregated with the disease in all affected family members. One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis. (c) 2013 Wiley Periodicals, Inc