Lung Involvement in Gaucher Disease

  • Mahnaz Pejman Sani Department of Internal Medicine, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Keivan GohariMoghadam Respiratory Disease Ward, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Mahbube Ebrahimpur Department of Internal Medicine, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Keywords:
Gaucher disease, Shortness of breath, Pulmonary 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.

References

[1] Tofolean D, Adam T, Mazilu L, Parepa IR. A case of late diagnosis of Gaucher disease with lung involvement (case study). ARS Medica Tomitana. 2015; 21(2):63-6. [DOI:10.1515/arsm-2015-0022]
[2] Mehta S. Severe pulmonary involvement with cor pulmonale; the initial presenting feature of non-neuronopathic form of Gaucher’s disease. Journal of Pediatric Sciences. 2015; 7:e245. [DOI:10.17334/jps.45559]
[3] Sherwani P, Vire A, Anand R, Gupta R. Lung lysed: A case of Gaucher disease with pulmonary involvement. Lung India. 2016; 33(1):108-10. [DOI:10.4103/0970-2113.173086] [PMID] [PMCID]
[4] Ceyhan M, Celik F, Elmali M, Gurmen N. An unusual form of Gaucher’s disease: Pulmonary and cardiovascular involvement and cholelitiasis. Central European Journal of Medicine. 2010; 5(4):495- 8. [DOI:10.2478/s11536-009-00621]
[5] Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clinical Cases in Mineral and Bone Metabolism. 2015; 12(2):157-64. [DOI:10.11138/ccmbm/2015.12.2.157] [PMID] [PMCID]
Published
2020-04-30
How to Cite
1.
Pejman Sani M, GohariMoghadam K, Ebrahimpur M. Lung Involvement in Gaucher Disease. CRCP. 4(4):125-127.
Section
Clinical Image(s)