Lung Involvement in Gaucher Disease

Abstract

Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease.

Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the

disease with the worst outcome.

Case Presentation: A 30-year-old man and known case of Gaucher Disease presented

to our clinic with history of progressive dyspnea since 8 months ago. Pulmonary function

test showed restrictive pattern. Chest CT scan revealed diffuse bilateral interlobular septal

thickening and small interstitial nodules with ground glass opacities in lower lobes.

Conclusion: Patients with Gaucher Disease that present with progressive dyspnea may have

a manifestation of interstitial or alveolar lung disease.