Tachypnea of infancy as the first sign of Sanfilippo syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25113300.
- Also identified by DOI 10.1542/peds.2013-2765.
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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.
Medical subject headings
- Mucopolysaccharidosis III
- Tachypnea