A Rare Case of Infantile Gaucher Disease - A Case Report

Rama Devi Kunamalla, Rajayalakshmi S, Sundari T, Shravan Kumar O, Venkateshwara Rao J

Abstract


A 3-month old male child weight 3.2 kg presented was with anaemia (Hb 3.1 mg/dl) and massive hepatospleenomegaly. His respiratory and CVS systems were normal. Osmatic fragility and G6PD spot test were normal. Hb electrophoresis showed HbA-86.02%, HbF 2.8% and HbA2 3.9%. Bone marrow aspiration and biopsy showed typical Gaucher cells. This case was diagnosed as an infantile Gaucher’s disease.


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