Diagnostic Challenge of Pediatric Gaucher Disease in a Low‐Resource South Asian Setting: A Case Report

ABSTRACT

Gaucher disease is a rare autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme “β‐glucocerebrosidase”, leading to the accumulation of glucocerebroside within macrophages. It commonly presents with hepatosplenomegaly, cytopenias, and bone marrow infiltration. Gaucher disease is a pan‐ethnic lysosomal storage disorder reported worldwide. Although few cases have been described in Pakistan and other South Asian countries, limited awareness and restricted access to diagnostic testing may contribute to underdiagnosis and delayed recognition in this region. We report the case of a 2‐year‐old girl who presented with fever and cough of 1 week's duration. Her mother reported normal birth and development until 6 months of age, after which she developed progressive weakness and abdominal distension. She had a history of recurrent hospitalizations for anemia, chest infections, and abdominal swelling. Family history revealed consanguinity and early childhood deaths of two siblings and one cousin with similar complaints. The clinical examination revealed pallor, weakness, and marked hepatosplenomegaly. A complete blood count showed features of pancytopenia; therefore, a bone marrow examination was advised, which demonstrated characteristic Gaucher cells, supporting a presumptive diagnosis of Gaucher disease. Symptomatic treatment was initiated, and the patient was referred to Children Hospital, Lahore, Pakistan.