Gaucher’s Disease

Gaucher’s Disease

DOI:

https://doi.org/10.21649/akemu.v5i1.3441

Keywords:

PAS( Period acid Schiff, Hb(Haemoglobin)

Abstract

Gaucher’s disease is the commonest lysosomal storage disorder. It is a rare disorder inherited as an autosomal recessive trait, caused by mutation of the glucocerebrosidase gene. The adult type of the disease is the commonest type the infantile and juvenile type being very rare. We received two cases of Gaucher’s disease (one infant and one child) at the Pathology Department of Allama Iqbal Medical College, Lahore, from the Pediatric Department of Jinnah Hospital, Lahore. Both patients presented with massive hepatosplenomegaly. Routine blood examination and bone marrow aspiration was carried out. Bone marrow smears showed Gaucher cells. Liver biopsy also showed Gaucher cells. Periodic acid Schiff (PAS) stain on bone marrow smears and liver biopsy revealed Gaucher cells to be positive for PAS.

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Published

06/20/2020

How to Cite

Gaucher’s Disease. (2020). Annals of King Edward Medical University, 5(1), 110–111. https://doi.org/10.21649/akemu.v5i1.3441

Issue

Section

Case Reports

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