Syndromic Bilateral Craniosynostosis With Concomitant Bilateral Encephalocele and Pierre Robin Sequence: Case Report
Jeffrey Lu, Sahar Borna, Shoshana Trudel, Trucvy Nguyen, Rose Meltzer, Rajendra Sawh-MartinezBackground:
Craniosynostosis and encephalocele are rare congenital cranial anomalies, typically presenting independently. Their concurrent occurrence is exceedingly uncommon and poses significant perioperative and reconstructive challenges.
Case Presentation:
A neonate born at 38 weeks via scheduled Cesarean section presented with prenatal findings of bicoronal craniosynostosis, temporal brain parenchymal protrusion, and severe micrognathia. At birth, the patient exhibited severe Pierre Robin sequence and a right temporal encephalocele requiring emergent airway stabilization. Genetic evaluation was negative for pathogenic variants. Three-dimensional imaging demonstrated bicoronal craniosynostosis with bilateral harlequin eye deformity, right temporal encephalocele, an additional left temporal bony defect, and severe mandibular hypoplasia with cleft palate. The patient underwent anterior cranial vault expansion with bicoronal synostosis release and strip cranioplasties at 3 weeks. Posterior cranial vault remodeling with distractors was performed at 5 months, followed by repeat cranioplasty at 1 year, and fronto-orbital advancement with encephalocele repair at 2.5 years. The patient recovered uneventfully, with volumetric imaging showing stable cranial expansion and improved contour. Neurologic development improved, with increased interactivity and stable exophthalmos.
Conclusion:
This is the first reported case of bilateral craniosynostosis with concomitant bilateral encephaloceles. Early vault expansion and staged reconstruction can be safe and effective when supported by multidisciplinary care and advanced imaging, highlighting the importance of early intervention in complex craniofacial anomalies.