Congenital anterior skull base encephaloceles: long-term outcomes after transnasal endoscopic reconstruction.

ABSTRACT Background Congenital intranasal encephaloceles (ECs) are rare malformations of the paediatric age, complex to diagnose and treat, above all if associated to genetic syndromes or concomitant dysmorphisms. The aims of the study were to report our experience in managing nasal ECS in children, to evaluate the efficacy and safety of the transnasal endoscopic repair and to analyse in an overall way the surgical long-term outcomes. Moreover, we sought to contribute to the debate on ECs pathogenesis investigating possible related risk factors among those described in literature. Methods Retrospective analysis of paediatric nasal ECs managed with transnasal endoscopic approach at a tertiary referral centre through clinical follow-up and telephone survey. Results 23 subjects with nasal ECs fitted the criteria of the study. Mean age at surgery was 5 years old (69 months), mean follow-up was 59 months. Clinical presentation is described in details, with particular emphasis on syndromic cases. 17/23 patients had an isolated EC while in 4/23 cases a malformation syndrome was associated. EC recurred in 2/23 patients (8,7%) after surgical correction, necessitating a revision procedure. No perioperative complications or long-term sequelae were noted in the whole population. Conclusions Endonasal endoscopic management of congenital ECs is feasible in children, although regular long-term follow up is essential. Furthermore, the surgical approach doesn’t seem to affect patients’ development and quality of life but more studies and validated questionnaire are needed. Lastly, no recurrent risk factors were observed able to justify a certain aetiological relation.