Indian Journal of Mednodent and Allied Sciences
Open Access
  • Year: 2015
  • Volume: 3
  • Issue: 2

A Rare Case of Infantile Gaucher Disease-A Case Report

  • Author:
  • Kunamalla Rama Devi1,, S. Rajayalakshmi1, T. Sundari1, O. Shravan Kumar2, J. Venkateshwara Rao3
  • Total Page Count: 5
  • Page Number: 122 to 126

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.

Keywords

An infantile Gaucher's disease, Acute neuropathic form Hepatosplenomegaly, Gaucher cells, Glucocerebrosidase, Thrombocytopenia, Acidphosphotase