Apert syndrome: Cranial procedures and brain malformations in a series of patients

Abstract

Background: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a cohort of children with Apert syndrome treated in the past 20 years and to compare these data with previously published data.

Methods: Retrospective analysis of a series of patients with Apert syndrome treated between 1999 and 2019 in our hospital. Information was analyzed regarding craniofacial procedures, hydrocephalus and presence of shunts, Chiari malformation Type 1, and other brain malformations such as corpus callosum and septum pellucidum anomalies.

Results: Thirty-seven patients were studied. Ventriculoperitoneal shunt prevalence was 24.3%, and 8.1% of patients required decompressive surgery for Chiari malformation. All of them needed at least one cranial vault remodeling procedure. The median age for this procedure was 8 months. In 69.7% of patients, the first cranial vault intervention was performed in the fronto-orbital region. In 36.4% of patients, a midface advancement had been performed at the time of this review, although this proportion was very dependent on the follow-up period and the age of the patients. The median age for the midface advancement procedure was 5.25 years. Anomalies of the corpus callosum and the septum pellucidum were reported in 43.2% and 59.5% of patients, respectively.

Conclusion: Apert syndrome is a type of syndromic craniosynostosis, and patients usually require one or more cranial and facial surgeries. In comparison with other syndromic craniosynostosis types, Apert syndrome less frequently requires a VP shunt or treatment for a Chiari malformation.

Keywords: Apert syndrome; Craniosynostosis; Fronto-orbital advancement; Hydrocephalus; Monobloc advancement.

Figure 1:

Cranial CT with osseous 3D reconstruction. A 7-month-old patient presented a significant midline defect that included split sagittal suture, enlarged anterior fontanelle, and split metopic suture.

Figure 2:

Sagittal T2-weighted MR image. A 5-year-old patient presenting a corpus callosum malformation. A distorted morphology is shown with agenesis of its anterior third.

Figure 3:

Axial T2-weighted MR image. A 4-year-old patient demonstrating a duplicity of septum pellucidum or cystic septum or cavum vergae.

Figure 4:

Sagittal T1-weighted MR image. A 17-month-old patient presenting a Chiari malformation with a 9 mm tonsillar herniation through the foramen magnum.