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Nasal Polyposis in mucopolysaccharidosis type II

Sushmitha Kabekkodu1, Suja Sreedharan2, Kirti Gupta3

  • 1Otorhinolaryngology, Kasturba Medical College Mangalore, Manipal Academy of Higher Eduction, Mangalore, Karnataka, India.

BMJ Case Reports
|March 6, 2021
PubMed

Insights

Mucopolysaccharidosis (MPS) type II, a rare genetic disorder, can manifest as nasal polyps. This study highlights a unique case where nasal polyps were identified as mucopolysaccharide-laden mucosa, offering new diagnostic insights.

Area of Science:

  • Genetics and rare diseases
  • Otolaryngology
  • Histopathology

Background:

  • Mucopolysaccharidosis (MPS) type II is a rare genetic disorder characterized by glycosaminoglycan accumulation.
  • Early-onset ENT surgeries are common in MPS II patients before diagnosis.
  • Nasal polyposis is an exceptionally rare manifestation of MPS II.

Purpose of the Study:

  • To report a unique case of recurrent nasal polyposis in a patient with MPS type II.
  • To investigate the histopathological nature of these nasal masses.
  • To discuss the implications for understanding nasal polyposis in MPS II.

Main Methods:

  • Clinical case presentation of a patient with recurrent nasal polyposis since age 2.
  • Histopathological examination of nasal polyps.
  • Application of Hale's colloidal iron stain to identify mucopolysaccharides in the nasal masses.

Main Results:

  • The 'nasal polyps' were identified as mucopolysaccharide-laden sinonasal mucosa.
  • Hale's colloidal iron stain effectively visualized the accumulated mucopolysaccharides.
  • This represents a novel application of this staining technique for nasal polyps in MPS.

Conclusions:

  • Recurrent nasal polyposis can be a presenting sign of MPS type II.
  • Hale's colloidal iron stain is a valuable tool for diagnosing MPS-related sinonasal pathology.
  • Further research into the natural history of nasal polyposis in MPS II is warranted.
Keywords:
eargeneticsnasal polypsnose and throatotolaryngology / ENTpathology

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