Nasal Polyposis in mucopolysaccharidosis type II.
ear
genetics
nasal polyps
nose and throat
otolaryngology / ENT
pathology
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
05 Mar 2021
05 Mar 2021
Historique:
entrez:
6
3
2021
pubmed:
7
3
2021
medline:
15
5
2021
Statut:
epublish
Résumé
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS. Nasal polyposis is a rare occurrence, with only one case of MPS II with polyposis reported in the literature. We present a patient who presented with recurrent nasal polyposis from the age of 2 years. Hale's colloidal iron was used to stain these 'nasal polyps', which revealed that they are, in fact, mucopolysaccharide-laden sinonasal mucosa prolapsing into the nasal cavities. We believe this is the first time that this stain has been used to stain nasal polyps in MPS. In addition to the histopathological peculiarities of these nasal masses, we also discuss the natural history of nasal polyposis in MPS II.
Identifiants
pubmed: 33674293
pii: 14/3/e238778
doi: 10.1136/bcr-2020-238778
pmc: PMC7939012
pii:
doi:
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Pediatr Neonatol. 2017 Apr;58(2):198-199
pubmed: 28298256
Int J Pediatr Otorhinolaryngol. 1993 Feb;26(1):79-87
pubmed: 8444549
Arch Dis Child. 1998 Sep;79(3):237-41
pubmed: 9875019
Am J Hum Genet. 1996 Dec;59(6):1202-9
pubmed: 8940265
Genet Med. 2008 Jul;10(7):508-16
pubmed: 18580692
Genet Med. 2010 Dec;12(12):816-22
pubmed: 21045710