Gaucher's disease: a case report

Authors

  • Sanjay Singla Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India
  • Rameshwar Ninama Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India
  • Bhupesh Jain Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India
  • Suresh Goyal Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20171295

Keywords:

Gaucher disease, Glucocerebrosidase, Splenomegaly

Abstract

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.

Author Biographies

Sanjay Singla, Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India

department of pediatrics, Resident doctor

Rameshwar Ninama, Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India

department of pediatrics, Resident doctor

Bhupesh Jain, Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India

department of pediatrics, Assistant Professor

Suresh Goyal, Department of Pediatrics, Rabindranath Tagore Medical College, Udaipur, Rajasthan, India

department of pediatrics, Head of Department

References

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.

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Published

2017-03-28

How to Cite

Singla, S., Ninama, R., Jain, B., & Goyal, S. (2017). Gaucher’s disease: a case report. International Journal of Research in Medical Sciences, 5(4), 1712–1714. https://doi.org/10.18203/2320-6012.ijrms20171295

Issue

Section

Case Reports