Caplan Ian F, Ye Michael, Pearlman Aaron N
Department of Otolaryngology-Head and Neck Surgery, Weill Cornell Medical College, New York, NY, USA.
Ear Nose Throat J. 2024 Sep 24:1455613241284153. doi: 10.1177/01455613241284153.
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.
科妮莉亚·德朗热综合征（CdLS）是一种罕见的遗传性多发畸形疾病，伴有多种耳鼻喉科合并症。CdLS患者慢性鼻窦炎（CRS）和伴鼻息肉的慢性鼻窦炎（CRSwNP）的患病率似乎有所增加，然而，关于CdLS人群中CRSwNP的表现、评估和管理的文献有限。在此，我们对Embase、PubMed、Cochrane图书馆和谷歌学术进行了文献综述，并报告了在我们机构确诊的1例伴CdLS的CRSwNP病例。我们描述了一名8岁男性，经病史、体格检查、鼻内镜检查和计算机断层扫描确诊为CdLS和CRSwNP。鼻塞症状经药物治疗无效，需要反复手术治疗，术后鼻塞情况有所改善。文献综述发现另外2例鼻息肉病例采用了类似的治疗策略。此外，一个病例系列显示33%的CdLS患者患有复发性鼻窦炎，而另一个系列发现39%的CdLS患者患有CRS，12%患有CRSwNP。这些数据表明，与普通人群相比，CRSwNP在CdLS患者中更为普遍，药物和手术联合治疗可以安全有效地管理该疾病。
