Type I (Non-neuronopathic) Gaucher’s disease with bone marrow involvement: a rare case report.

Authors

  • Mallikarjun Adiveppa Pattanashetti KLE University's Jawaharlal Nehru Medical College, Belagavi
  • Ramesh Yashwantrao Chavan KLE University's Jawaharlal Nehru Medical College, Belagavi

Keywords:

Gaucher’s disease, Glucocerebrosidase, Non-neuronopathic

Abstract

Gaucher’s disease an uncommon autosomal recessive sphingolipid lysosomal storage disease  characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system from the deficient activity of the lysosomal hydrolase β-glucosidase( glucocerebrosidase).  In the absence of enzyme, glucosylceramide accumulates in lysosomes of macrophages of  tissues with multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system.Serum β glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. We report this case of  1 year 6 month  male child who presented with delayed milestones, purpuric rashes and massive hepatosplenomegaly. Hematological workup revealed pancytopenia. Bone marrow study showed the characteristic gaucher cells and liver biopsy also showed evidence of Gauchers disease. Hence diagnosis of Type I (non-neuronopathic) Gaucher disease was given. With the advent of enzyme replacement therapy and substrate reduction therapy the natural history of the disease has been changed with a marked decrease in morbidity. The incidence of Type I Gaucher’s disease is 1 in 60,000  births but this non-neuronopathic type presenting with pancytopenia due to bone marrow involvement is rare entity with very few cases in India.

References

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Published

03-10-2016

How to Cite

1.
Pattanashetti MA, Chavan RY. Type I (Non-neuronopathic) Gaucher’s disease with bone marrow involvement: a rare case report. Ann of Pathol and Lab Med [Internet]. 2016 Oct. 3 [cited 2025 Feb. 6];3(4):C228-232. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/apalm856

Issue

Vol. 3 No. 4 (2016)

Section

Case Report

License

Copyright (c) 2016 Mallikarjun Adiveppa Pattanashetti, Ramesh Yashwantrao Chavan

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