Case Study of a Rare Genetic Disorder: Gaucher Disease

CASE REPORT
A. Xani, K. Hoti-Xani, A. Rashiti-Bytyçi

 
For citation: Xani A, Hoti-Xani K, Rashiti-Bytyçi A. Case Study of a Rare Genetic Disorder: Gaucher Disease. International Journal of Biomedicine. 2025;15(2):404-407. doi:10.21103/Article15(2)_CR1
 
Originally published June 5, 2025
 

Abstract: 

Gaucher disease (GD) is a rare, autosomal recessive genetic disorder characterized by the accumulation of fat-laden Gaucher cells in organs such as the spleen, liver, and bone marrow. The condition presents with a range of symptoms, including hepatosplenomegaly, anemia, thrombocytopenia, fatigue, and skeletal abnormalities. We report a case of a six-year-old female who presented to the Pediatric Clinic with low hemoglobin and platelet counts, along with splenomegaly. Following a comprehensive diagnostic evaluation, including genetic testing, she was diagnosed with GD. This case highlights the importance of thorough investigations in patients with unexplained hematological abnormalities and splenomegaly. The diagnosis of GD necessitates genetic counseling to inform parents about the hereditary nature of the disease and to ensure optimal management and support for affected children. This case underscores the need for early recognition and appropriate care to improve the quality of life for individuals with GD.

Keywords: 
Gaucher disease • β-glucocerebrosidase • GBA1 gene
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Received March 1, 2025.
Accepted April 10, 2025.
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