A Rare Case of Infantile Gaucher Disease-A Case Report
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Date
2015-06
Journal Title
Journal ISSN
Volume Title
Publisher
Association of Medical Dental and Allied Sciences
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.
Description
Keywords
An infantile Gaucher's disease, Acute neuropathic form Hepatosplenomegaly, Gaucher cells, Glucocerebrosidase, Thrombocytopenia, Acidphosphotase
Citation
Devi Kunamalla Rama, Rajayalakshmi S., Sundari T., Kumar O. Shravan, Rao J. Venkateshwara. A Rare Case of Infantile Gaucher Disease-A Case Report. Indian Journal of Mednodent and Allied Sciences. 2015 Jun; 3(2): 122-126