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Case Report

J. Islam. Int. Med. Coll.. 2018; 13(1): 45-46

Gaucher Disease: A Case with Unexplained Splenomegaly

Ahsan Ahmad Alvi, Ayesha Nayyar, Rabiah Asghar, Muhammad Nadeem Akbar Khan, Ayesha Elahi, Ammar Naqvi.


A 5 years old male child presented with fever, repeated chest infection, short stature and developmental delay.
On examination; he had massively enlarged spleen measuring 10 cm below left costal margin. He was advised
bone marrow examination by pediatric consultant to find out the cause for splenomegaly. Bone marrow
examination revealed hypercellular marrow with numerous mononuclear storage cells having fibrillary
cytoplasm, morphologically resembling Gaucher cells. The bone marrow trephine biopsy also revealed heavy
infiltration in the form of sheets of storage cells both interstitial and paratrabecular in distribution. These cells
showed strong PAS positivity confirming the diagnosis of Gaucher disease.

Key words: Enzyme Replacement Therapy, Gaucher Disease, Glucoceribrosidase, Splenomegaly.

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