Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.
Case report
Cornelia de Lange Syndrome
Endoscopic surgery
Nasal obstruction
Nasal polyps
Obstructive sleep apnea
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
16 Jul 2023
16 Jul 2023
Historique:
received:
07
06
2022
accepted:
05
04
2023
medline:
18
7
2023
pubmed:
17
7
2023
entrez:
16
7
2023
Statut:
epublish
Résumé
Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism, and upper-limb reduction. Nasal polyposis was previously reported in association with chronic rhinosinusitis, however data about prevalence, diagnosis, treatment and prognosis are lacking for this cohort of patients, affected by rare disease. We describe the whole diagnostic and therapeutic workflow of nasal polyps in two pediatric patients with Cornelia de Lange, successfully diagnosed and treated by nasal endoscopy. Our report confirm that nasal endoscopy is a safe and useful tool in the diagnosis, treatment and follow-up of nasal polyps, even in Cornelia de Lange syndrome pediatric patients. We want to increase the alert for the detection of nasal polyps in patients with Cornelia de Lange syndrome since pediatric age. We recommend endoscopy in all patients with Cornelia de Lange syndrome and symptoms of chronic nasal obstruction and/or OSAS. Multidisciplinary team and sedation service could be useful in the management of Cornelia de Lange syndrome patients with airway obstruction symptoms and sleep disturbance when severe intellectual disability, autism or psychiatric findings are present.
Sections du résumé
BACKGROUND
BACKGROUND
Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism, and upper-limb reduction. Nasal polyposis was previously reported in association with chronic rhinosinusitis, however data about prevalence, diagnosis, treatment and prognosis are lacking for this cohort of patients, affected by rare disease.
CASE PRESENTATION
METHODS
We describe the whole diagnostic and therapeutic workflow of nasal polyps in two pediatric patients with Cornelia de Lange, successfully diagnosed and treated by nasal endoscopy.
CONCLUSION
CONCLUSIONS
Our report confirm that nasal endoscopy is a safe and useful tool in the diagnosis, treatment and follow-up of nasal polyps, even in Cornelia de Lange syndrome pediatric patients. We want to increase the alert for the detection of nasal polyps in patients with Cornelia de Lange syndrome since pediatric age. We recommend endoscopy in all patients with Cornelia de Lange syndrome and symptoms of chronic nasal obstruction and/or OSAS. Multidisciplinary team and sedation service could be useful in the management of Cornelia de Lange syndrome patients with airway obstruction symptoms and sleep disturbance when severe intellectual disability, autism or psychiatric findings are present.
Identifiants
pubmed: 37455311
doi: 10.1186/s13052-023-01454-3
pii: 10.1186/s13052-023-01454-3
pmc: PMC10350250
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
85Informations de copyright
© 2023. The Author(s).
Références
Laryngoscope. 2020 Apr;130(4):E122-E133
pubmed: 31301187
Rhinol Suppl. 2012 Mar;23:3 p preceding table of contents, 1-298
pubmed: 22764607
Curr Allergy Asthma Rep. 2018 May 29;18(7):37
pubmed: 29845321
BMJ Case Rep. 2016 Jun 21;2016:
pubmed: 27329094
Clin Genet. 2009 Oct;76(4):303-14
pubmed: 19793304
Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):248-60
pubmed: 17640042
Arch Otolaryngol Head Neck Surg. 1990 Sep;116(9):1044-6
pubmed: 2383389
Nat Rev Genet. 2018 Oct;19(10):649-666
pubmed: 29995837
Am J Med Genet A. 2007 Jun 15;143A(12):1287-96
pubmed: 17508425
Am J Med Genet A. 2015 Jun;167(6):1179-92
pubmed: 25899772