Tachypnea of infancy as the first sign of Sanfilippo syndrome

Jackie Chiang; Julian Raiman; Ernest Cutz; Melinda Solomon; Sharon Dell

doi:10.1542/peds.2013-2765

Tachypnea of infancy as the first sign of Sanfilippo syndrome

Pediatrics. 2014 Sep;134(3):e884-8. doi: 10.1542/peds.2013-2765. Epub 2014 Aug 11.

Authors

Jackie Chiang¹, Julian Raiman², Ernest Cutz³, Melinda Solomon¹, Sharon Dell⁴

Affiliations

¹ Divisions of Respiratory Medicine, Department of Pediatrics and.
² Department of Pediatrics and Genetics and Metabolics, and.
³ Pathology, The Hospital for Sick Children, Toronto, Ontario; and Department of Laboratory medicine and Pathobiology, University of Toronto, Toronto, Ontario.
⁴ Divisions of Respiratory Medicine, Department of Pediatrics and [email protected].

PMID: 25113300
DOI: 10.1542/peds.2013-2765

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.

Keywords: Mucopolysaccharidosis III; infant; pathology; tachypnea.

Publication types

Case Reports

MeSH terms

Child, Preschool
Humans
Infant, Newborn
Male
Mucopolysaccharidosis III / complications*
Mucopolysaccharidosis III / diagnosis*
Tachypnea / diagnosis*
Tachypnea / etiology*