Tachypnea of infancy as the first sign of Sanfilippo syndrome.

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.
(Copyright © 2014 by the American Academy of Pediatrics.)