Gaucher's disease: a case report

Sanjay Singla, Rameshwar Ninama, Bhupesh Jain, Suresh Goyal


Gaucher's disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. This enzyme is encoded by a gene on chromosome 1. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. Serum β-glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. Here we report a case of Gaucher’s disease.


Gaucher disease, Glucocerebrosidase, Splenomegaly

Full Text:



Gaucher’s Disease- Genetics Home References. Accessed on: 3 January 2017.

Hopkin R, Grabowski GA. Lysosomal storage diseases. In: Harrisons principles of internal medicine. 18th Ed. Mc Graw Hill; 2011:3196.

Lachmann RH, Grant IR, Halsall D, Cox TM. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. QJM. 2004;97:199-204.

Bar ton NW, Brady RU, Dambrosia JM. Replacement therapy for inherited enzyme deficiency- Macrophage targeted Glucocerebrosidase for Gaucher’s disease. N Engl J Med.1991,324:1464-70.

Rubin M, Yompolski I, Lambrozo R, Zaizov R, Dintsman M. Partial splenectomy in Gaucher’s disease. J Pediatr Surg. 1986;21(2):125-8.