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

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.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2011-04, Vol.34 (2), p.547-548
Hauptverfasser:	Tchan, Michel C., Graf, Nicole, Sillence, David O.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biochemistry Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Elastin - metabolism Emphysema - diagnosis Emphysema - diagnostic imaging Enzyme Replacement Therapy - methods Errors of metabolism Human Genetics Humans Images in Metabolic Medicine Internal Medicine Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Mucopolysaccharidosis I - diagnosis Mucopolysaccharidosis I - pathology Pediatrics Phenotype Pleura - pathology Tomography, X-Ray Computed
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Beschreibung
Zusammenfassung:	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.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/s10545-010-9273-5