An unusual presentation of Gaucher disease in an infant with progressive dyspnea.

TitleAn unusual presentation of Gaucher disease in an infant with progressive dyspnea.
Publication TypeJournal Article
Year of Publication2013
AuthorsLevy JM, Glass DA, Rodriguez KH
JournalThe Ochsner journal
Volume13
Issue2
Pagination270-2
Date Published2013 Summer
Abstract

The most common lysosomal storage disorder, Gaucher disease, represents a collection of 3 clinical syndromes associated with disrupted glucocerebroside catabolism. Despite the common occurrence of dyspnea in advanced Gaucher, dyspnea is rarely reported as a presenting symptom of the disease.

DOI10.1371/journal.pone.0055951
Alternate JournalOchsner J