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Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations

Annerose Keilmann1, Anne K Läßig1, Anja Pollak-Hainz1

  • 1Department for Communication Disorders of the University Medical Center of the Johannes Gutenberg-University Mainz, Germany.

International Journal of Pediatric Otorhinolaryngology
|December 10, 2014
PubMed
Abstract

Insights

Histological examination of adenoids and tonsils reveals characteristic features for diagnosing mucopolysaccharidoses (MPS). This method offers high sensitivity and specificity, aiding in early MPS detection.

Area of Science:

  • Pathology
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are genetic disorders characterized by glycosaminoglycan (GAG) accumulation.
  • Tonsillar hypertrophy is a common symptom in MPS patients due to GAG buildup.
  • Identifying diagnostic markers in affected tissues is crucial for early intervention.

Purpose of the Study:

  • To investigate morphological features in adenoid and tonsil tissues of MPS patients.
  • To assess the diagnostic potential of these features for MPS.
  • To evaluate the reliability of histological examination for MPS diagnosis.

Main Methods:

  • Histopathological examination of adenoid and tonsil tissues from 87 MPS patients and 63 controls.
  • Inclusion of patients with MPS I, II, IV, and VI.
  • Blinded assessment by two pathologists to ensure objectivity.

Main Results:

  • A distinct subepithelial "clearing" caused by perivascular histiocytoid cell accumulation was identified.
  • High diagnostic accuracy was achieved: 92% specificity and 100% sensitivity.
  • Excellent inter-observer consistency (92%) was noted, with 100% for adenoids.

Conclusions:

  • Qualified histological examination of adenoids and tonsils can serve as a valuable tool for early MPS diagnosis.
  • The observed morphological features, particularly subepithelial clearing, are reliable diagnostic markers.
  • Further studies may refine histological criteria for broader MPS subtype diagnosis.
Keywords:
Adenoid tissueHistologyMucopolysaccharidoses

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