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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
Summary
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.
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