Gaucher’s Disease with Rare Genotype- A Case Report

Abstract

Gaucher’s Disease (GD) is a rare inherited Lysosomal Storage Disorder (LSD) caused by autosomal recessive inheritance of homozygous mutations in the Glucocerebrosidase (GBA) gene encoding the lysosomal enzyme acid β-glucosidase. GD is usually under-diagnosed in developing countries due to limitations in diagnostic resources for genetic evaluation. However, under such circumstances a meticulous Bone Marrow Examination (BME) and clinical correlation gives clue to the diagnosis of GD. Hence, the authors here report a case of 2-years-old male child who presented with abdominal distension and fullness with refractory anaemia for which he was transfused blood in the past. The ultrasound sonography revealed disproportionate hepatosplenomegaly. The clinical differential diagnoses were haematolymphoid malignancy and haemolytic anaemia. Haemoglobin (Hb) electrophoresis revealed no structurally abnormal Hb while the BME revealed hallmark Gaucher’s cells. To confirm the diagnosis of GD, enzymatic assay was done which revealed reduced β (beta) glucosidase and elevated plasma chitotriosidase levels followed by genetic work up which revealed a rare genotype with compound heterozygous mutation in GBA gene having uncommon variants.

Keywords

• bone marrow
• gaucher’s cells
• lysosomal storage disorder