Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia

Abstract

Gaucher disease is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of acid beta-glucocerebrosidase (Enzyme Commission 3.2.1.45). Its clinical presentation is polymorphic, dominated by hepatosplenomegaly and cytopenias, and may mimic a malignant hematologic disorder or a chronic infection. This is a clinical case report compiled in the pediatrics department of the Yalgado Ouédraogo University Hospital Center. The patient was a four-year-old boy with a history of chronic malnutrition and multiple hospitalizations in various hospitals across the country. He was admitted for abdominal distension that had been present for two years, associated with recurrent epistaxis and severe bicytopenia. Clinical signs on admission included good general condition, pallor of the skin and mucous membranes, and hepatosplenomegaly. Laboratory findings revealed bicytopenia on the complete blood count and hyperproteinemia. The progression to pancytopenia led to the performance of a myelogram, which revealed numerous foam cells resembling Gaucher cells, raising suspicion of a constitutional lysosomal storage disorder. Enzyme assay confirmed a glucocerebrosidase deficiency, leading to a diagnosis of Gaucher disease type 1. Treatment was symptomatic, and the patient died the day before the enzyme assay results were received, eighty-four days after his initial admission to our hospital. This case illustrates the difficulties and consequences of delayed diagnosis in countries with limited resources and technical capabilities.