A Rare Case of Infantile Gaucher Disease-A Case Report Devi Kunamalla Rama1,,*, Rajayalakshmi S.1, Sundari T.1, Kumar O. Shravan2, Rao J. Venkateshwara3 1Assistant Professor, Department of Pathology, Gandhi Hospital, Musheerabad, Hyderabad, Telangana 2Professor and HOD, Department of Pathology, Gandhi Hospital, Musheerabad, Hyderabad, Telangana 3Professor, Gandhi Hospital, Department of Pediatrics, Musheerabad, Hyderabad, Telangana, India *Email id: akxay.akshara@gmail.com
Online published on 16 October, 2015. 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. Top Keywords An infantile Gaucher's disease, Acute neuropathic form Hepatosplenomegaly, Gaucher cells, Glucocerebrosidase, Thrombocytopenia, Acidphosphotase. Top |