Mucopolysaccharidosis: radiographic findings in a series of 16 cases

Dmitry José de Santana Sarmento1, Sérgio Henrique Gonçalves de Carvalho1, Saulo Leonardo Sousa Melo2

  • 1Department of Dentistry, Paraíba State University, Araruna, Paraíba, Brazil.

Abstract

Insights

Panoramic radiographs revealed common oral and maxillofacial findings in mucopolysaccharidoses (MPS) patients, including condyle abnormalities and cyst-like dental crypts. These dental radiographic features may aid in recognizing MPS disorders.

Area of Science:

  • Dentistry
  • Medical Imaging
  • Genetics

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic disorders.
  • Oral and maxillofacial manifestations are common in MPS patients.
  • Radiographic evaluation is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate radiographic findings on panoramic radiographs in patients with mucopolysaccharidoses (MPS).
  • To identify common oral and maxillofacial features associated with MPS.

Main Methods:

  • Retrospective cross-sectional study of 16 patients with cytogenetically diagnosed MPS.
  • Evaluation of panoramic radiographs for specific dental and skeletal features by two blinded observers.
  • Assessment included dentition, dental age, tooth impaction, taurodontism, and condyle morphology.

Main Results:

  • All 16 patients exhibited unusual condyle morphology.
  • Common findings included cyst-like dental crypts (75%), taurodontism, and tooth impaction (68.75% each).
  • Generalized enamel hypoplasia was specific to MPS IV (75% of MPS IV patients).

Conclusions:

  • Radiographic features in the oral and maxillofacial region are frequent in MPS patients.
  • Dentists may recognize MPS through these common radiographic findings.
  • Statistical relationships between specific radiographic features and MPS subtypes could not be established due to sample size.

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