Craniofacial
encephaloceles are rare, yet highly debilitating neuroanatomical abnormalities that result from herniation of neural tissue through a bony defect and can lead to death, cognitive delay,
seizures, and issues integrating socially. The etiology of
encephaloceles is still being investigated, with evidence pointing towards the Sonic Hedgehog pathway, Wnt signaling,
glioma-associated oncogene (GLI)
transcription factors, and
G protein-coupled receptors within primary cilia as some of the major genetic regulators that can contribute to improper mesenchymal migration and neural tube closure. Consensus on the proper approach to treating craniofacial
encephaloceles is confounded by the abundance of surgical techniques and parameters to consider when determining the optimal timing and course of intervention. Minimally invasive approaches to
encephalocele and temporal seizure treatment have increasingly shown evidence of successful intervention. Recent evidence suggests that a single, two-stage operation utilizing neurosurgeons to remove the
encephalocele and
plastic surgeons to reconstruct the surrounding tissue can be successful in many patients. The HULA procedure (H = hard-tissue sealant, U = undermine and excise
encephalocele, L = lower supraorbital bar, A = augment nasal dorsum) and endoscopic endonasal surgery using vascularized nasoseptal flaps have surfaced as less invasive and equally successful approaches to surgical correction, compared to traditional
craniotomies. Temporal
encephaloceles can be a causative factor in
drug-resistant temporal
seizures and there has been success in curing patients of these
seizures by temporal lobectomy and amygdalohippocampectomy, but magnetic resonance-guided
laser interstitial thermal
therapy has been introduced as a minimally invasive method that has shown success as well. Some of the major concerns postoperatively include
infection, cerebrospinal fluid (CSF) leakage, infringement of craniofacial development,
elevated intracranial pressure,
wound dehiscence, and developmental delay. Depending on the severity of
encephalocele prior to surgery, the surgical approach taken, any postoperative complications, and the age of the patient, rehabilitation approaches may vary.