title: Tachypnea of infancy as the first sign of Sanfilippo syndrome.
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.
authors.affiliation: Divisions of Respiratory Medicine, Department of Pediatrics and.
authors.forename: Jackie
authors.initials: J
authors.lastname: Chiang
authors.affiliation: Department of Pediatrics and Genetics and Metabolics, and.
authors.forename: Julian
authors.initials: J
authors.lastname: Raiman
authors.affiliation: Pathology, The Hospital for Sick Children, Toronto, Ontario; and Department of Laboratory medicine and Pathobiology, University of Toronto, Toronto, Ontario.
authors.forename: Ernest
authors.initials: E
authors.lastname: Cutz
authors.affiliation: Divisions of Respiratory Medicine, Department of Pediatrics and.
authors.forename: Melinda
authors.initials: M
authors.lastname: Solomon
authors.affiliation: Divisions of Respiratory Medicine, Department of Pediatrics and sharon.dell@sickkids.ca.
authors.forename: Sharon
authors.initials: S
authors.lastname: Dell
mesh_terms: D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009084:Mucopolysaccharidosis III / Q000150:complications* / Q000175:diagnosis*; D059246:Tachypnea / Q000175:diagnosis* / Q000209:etiology*
keywords: Mucopolysaccharidosis III; infant; pathology; tachypnea