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Sinus complications in mucopolysaccharidosis IH/S (Hurler-Scheie syndrome)

C J MacArthur1, R Gliklich, T J McGill

  • 1Department of Otolaryngology, University of California, Irvine, Orange 92668.

International Journal of Pediatric Otorhinolaryngology
|February 1, 1993
PubMed

Insights

Hurler-Scheie syndrome, a rare genetic disorder, causes glycosaminoglycan buildup. This case highlights severe nasal polyposis in a patient with Hurler-Scheie syndrome, a complication not previously reported.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Otolaryngology

Background:

  • Hurler-Scheie syndrome is a rare genetic disorder resulting from a deficiency in the enzyme alpha-L-iduronidase.
  • This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in tissues, causing widespread systemic effects.
  • While bone marrow transplantation can be effective for younger patients, many individuals with this condition age beyond its therapeutic window.

Observation:

  • Sinus complications have not been previously documented in patients with mucopolysaccharidoses.
  • This case presents a patient with Hurler-Scheie syndrome who developed severe nasal polyposis.
  • The nasal polyposis necessitated surgical intervention via endoscopic sinus removal.

Findings:

  • The study identifies severe nasal polyposis as a potential, previously unreported complication of Hurler-Scheie syndrome.
  • This finding suggests that otolaryngologists should consider sinus issues in the differential diagnosis for patients with this syndrome.
  • Increased longevity in patients with Hurler-Scheie syndrome may lead to a greater recognition of such complications.

Implications:

  • Recognizing nasal polyposis in Hurler-Scheie syndrome is crucial for timely diagnosis and management.
  • This underscores the importance of multidisciplinary care, including otolaryngology, for patients with rare metabolic disorders.
  • Further research is warranted to understand the prevalence and mechanisms of sinus complications in mucopolysaccharidoses.

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