Pediatric Gaucher Disease with Secondary Malnutrition (Kwashiorkor): Case Report

Abstract

Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA gene (Smith et al., 2017). It results in glucocerebrosidase deficiency, leading to the accumulation of glucocerebrosides in macrophages, causing systemic manifestations such as splenomegaly, anemia, and growth retardation (Hayes et al., 1998). This case report describes a 1-year and 5-month-old female diagnosed with GD, whose condition was further complicated by protein-energy malnutrition (Kwashiorkor). This report highlights the challenges of managing GD in resource-limited settings and emphasizes the need for a multidisciplinary approach.