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

Ochsner J. 2013 Summer;13(2):270-2.


Background: 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.

Case report: A 10-month-old male was referred to the Otolaryngology Clinic for evaluation of progressive dyspnea. Physical examination was significant for cervical adenopathy, inspiratory stridor, and developmental delay. A complete evaluation for failure to thrive and lymphadenopathy was performed, with subsequent lymph node biopsy and enzyme assay confirming the presence of Gaucher disease.

Conclusion: A high level of suspicion is required to make an early diagnosis of Gaucher disease, but it should be considered in patients presenting with failure to thrive, generalized lymphadenopathy, and respiratory or neurologic findings. Initiation of early treatment is paramount for the prevention of irreversible disease.

Keywords: Gaucher disease; lymphoproliferative diseases; lysosomal storage diseases; respiratory sounds.

Publication types

  • Case Reports