Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant.

Abstract excerpt

BACKGROUND Gaucher disease is a rare autosomal recessive disorder characterized by mutations in the glucocerebrosidase gene, resulting in deficient enzyme activity and accumulation of glucocerebroside in macrophages, which leads to pathological changes in affected organs. The atypical clinical manifestations of Gaucher disease often contribute to delays in diagnosis and treatment. CASE REPORT We present the case...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Cytomegalovirus Infections
• Share to Early Diagnosis