Managing Late-Onset ERF-Related Craniosynostosis With Cranial Vault Distraction Osteogenesis

Abstract

Introduction: ETS2 Repressor Factor (ERF) gene-related craniosynostosis is a rare condition characterized by pre- and/or post-natal fusion of 1 or more cranial sutures. In this report, we present our center’s experience managing ERF-related craniosynostosis in 2 patients with intracranial hypertension using cranial vault distraction osteogenesis (CVDO). Methods: Both patients underwent genetic testing and 24 hour intracranial pressure monitoring prior to surgery. Additionally, they were followed with regular clinical and dilated eye exams for a minimum of 2 years after surgery. Morphological and volumetric analysis were performed using pre- and post-operative computed tomography (CT) scans. Results: Both patients presented with late-onset, multisuture craniosynostosis. Patient 1 underwent lateral expansion of 2 frontoparieto-occipital bone segments at 5 years of age. A total expansion of 28 mm was performed (14 mm on each side) over a period of 12 days. Pre- and post-operative CIs were 69.3 and 81.3, respectively, and volumetric analysis revealed a 24.4% increase in his intracranial volume. Patient 2 underwent posterior expansion of a single parieto-occipital bone segment at 4 years and 10 months of age. A total expansion of 25.2 mm was performed over a period of 21 days. Pre- and post-operative CIs were 72.8 and 69.9, respectively. Volumetric analysis could not be performed owing to the poor resolution of the patient’s post-operative CT scan that was obtained from an outside institution. Both patients had their distractors removed following a 2 month consolidation period. No complications, signs of intracranial hypertension, or bony defects were noted for both patients at 2 years post-operatively. Conclusions: CVDO provides a tested option with excellent outcomes for treating patients with ERF-related craniosynostosis. Continued education of clinicians and families regarding ERF-related craniosynostosis is key to ensuring that patients with this genetic mutation promptly establish care for close surveillance and, in turn, prompt treatment if necessary.