Hemolytic Anemia Mimicker Came Out to be Gaucher Disease

Gaucher Disease is a metabolic disorder, inheritance being autosomal recessive. It is the most common amongst Lysosomal storage diseases. It is caused by deficiency of acid Glucocerebrosidase(GBA) enzyme. Consequently accumulation of cerebroside occurs in phagocyte cells in reticuloendothelial system and in some variants of the disease in CNS. There are three subtypes, most common(99%) being type 1(non-neuronopathic form) presenting as hepatosplenomegaly, pancytopenia, failure to thrive and skeletal complications. Type 2,3 manifesting with neurologic symptoms. Diagnosis is by bone marrow aspiration or biopsy, enzymatic assay of beta-glucosidase and confirmation by genetic testing. We describe a 3year3 month old male child who presented with gradual abdominal distension over a period of 18 months. Examination revealing hepatosplenomegaly with pallor and jaundice, failure to thrive. Haemolytic anemia was first thought of till HPLC came to be normal. Differentials were narrowed down to infiltrative disorders likely storage disorders like Gaucher disease, Niemann Pick disease. Possibility of leukemia, HLH was remote due to absence of fever, lymphadenopathy. Enzymatic assay depicted a normal sphingomyelinase level and lower normal beta glucocerebrosidase level, thus ruling in Gaucher disease. Bone marrow aspiration study showed Gaucher cells. Child presently receiving conservative management with initiation of process to receive enzyme replacement therapy(ERT). Thus Gaucher disease should be considered a differential , not uncommon in patients with unexplained organomegaly, jaundice with anemia or pancytopenia