Gaucher Disease: An Uncommon Cause of Pancytopenia in a 12-Year-Old Zambian Child - A Case Report

Abstract

Gaucher Disease (GD) is one of the rare genetic disorders resulting from glucocerebrosidase deficiency. GD is a rare cause of pancytopenia in children, presenting significant diagnostic challenges in settings with limited resources. The limited awareness of GD1 in developing countries, particularly among primary care physicians, often leads to delayed diagnoses and severe complications. The diagnosis is confirmed based on the identification of reduced glucocerebrosidase activity and genetic testing. This case report presents a teenage patient from Zambia with classical signs of type 1 Gaucher disease (GD1). She presented with transfusion- dependent anaemia, hepatosplenomegaly, pancytopenia and bone pain. The patient initially underwent splenectomy and later received enzyme replacement therapy due to non- availability initially, with clinical improvement. The case underscored critical diagnostic and treatment barriers in resource-limited settings. It also highlighted the urgent need for increased physician awareness and the development of a national rare diseases strategy to enable earlier intervention and improve patient outcomes.