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

Michel C Tchan; Nicole Graf; David O Sillence

doi:10.1007/s10545-010-9273-5

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

J Inherit Metab Dis. 2011 Apr;34(2):547-8. doi: 10.1007/s10545-010-9273-5. Epub 2011 Feb 1.

Authors

Michel C Tchan¹, Nicole Graf, David O Sillence

Affiliation

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

PMID: 21286938
DOI: 10.1007/s10545-010-9273-5

Abstract

Two unrelated adult patients with MPS I (Hurler-Scheie) demonstrated sub-pleural bullous emphysema. This complication of MPS I should be looked for due to the risk of spontaneous pneumothorax.

Publication types

Case Reports

MeSH terms

Adult
Elastin / metabolism
Emphysema / diagnosis
Emphysema / diagnostic imaging
Enzyme Replacement Therapy / methods
Humans
Mucopolysaccharidosis I / diagnosis
Mucopolysaccharidosis I / pathology*
Phenotype
Pleura / pathology*
Tomography, X-Ray Computed

Substances

Elastin