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Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie)

Michel C Tchan1, Nicole Graf, David O Sillence

  • 1Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia. michelt@chw.edu.au

Journal of Inherited Metabolic Disease
|February 3, 2011
PubMed

Insights

Mucopolysaccharidosis type I (MPS I) can cause sub-pleural bullous emphysema in adults. This serious lung complication necessitates careful monitoring to prevent spontaneous pneumothorax.

Area of Science:

  • Pulmonology
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidosis type I (MPS I), also known as Hurler-Scheie syndrome, is a rare genetic disorder affecting multiple organ systems.
  • Pulmonary complications are recognized in MPS I, but specific emphysematous changes have not been extensively documented.

Observation:

  • Two adult patients with MPS I (Hurler-Scheie) were observed to have sub-pleural bullous emphysema.
  • These patients presented with a previously unrecognized pulmonary manifestation of the disease.

Findings:

  • The presence of sub-pleural bullous emphysema was confirmed in both adult MPS I patients.
  • This finding suggests a potential link between MPS I and the development of emphysematous lung changes.

Implications:

  • Sub-pleural bullous emphysema represents a significant pulmonary complication of MPS I that requires clinical attention.
  • Early identification and monitoring for this condition are crucial due to the associated risk of spontaneous pneumothorax.
  • This highlights the need for comprehensive respiratory assessments in adult patients diagnosed with MPS I.

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