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Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome

Authors :
Julian Raiman
Jackie Chiang
Melinda Solomon
Sharon D. Dell
Ernest Cutz
Source :
Pediatrics. 134:e884-e888
Publication Year :
2014
Publisher :
American Academy of Pediatrics (AAP), 2014.

Abstract

This report describes the first known case of Mucopolysaccharidosis type IIIA presenting with respiratory symptoms and characteristic lung pathology. This case highlights under-recognized areas of systemic involvement and earlier modes of presentation in lysosomal storage disorders as well as the importance of investigating infants who have persistent tachypnea.

Details

ISSN :
10984275 and 00314005
Volume :
134
Database :
OpenAIRE
Journal :
Pediatrics
Accession number :
edsair.doi.dedup.....b65b9d18267d3ae34fa7019e76078d81
Full Text :
https://doi.org/10.1542/peds.2013-2765