Management of Nasal Polyposis in Pediatric Patients With Cornelia de Lange Syndrome: A Case Series and Literature Review.

Abstract

Cornelia de Lange syndrome (CdLS) is a rare genetic multiple malformation disorder with many otolaryngologic comorbidities. Patients with CdLS appear to have an increased prevalence of chronic rhinosinusitis (CRS) and chronic rhinosinusitis with nasal polyposis (CRSwNP), however, there is limited literature describing the presentation, evaluation, and management of CRSwNP within the CdLS population. Here we performed a literature review from Embase, PubMed, Cochrane Library, and Google Scholar and reported a case of CRSwNP with concomitant CdLS that was identified at our institution. We describe an 8-year-old male with CdLS and CRSwNP confirmed by history, physical exam, nasal endoscopy, and computed tomography. Symptoms of nasal obstruction were refractory to medical management and required repeat surgical management with improvement in nasal obstruction. Literature review identified 2 additional cases of nasal polyposis with similar management strategies. Additionally, one case series showed 33% of CdLS patients had recurrent sinusitis while a second series identified 39% of CdLS patients with CRS and 12% with CRSwNP. These data suggest that CRSwNP is more prevalent in patients with CdLS compared to the general public and can be both safely and effectively managed with a combination of medical and surgical therapy.