Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal

Summary Gaucher disease is a rare inherited disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase, leading to the accumulation of glucocerebroside within macrophages. This accumulation results in a wide spectrum of clinical manifestations, which may be life-threatening in severe cases. We report the first documented case in Senegal of a patient with Gaucher disease successfully treated with enzyme replacement therapy. The diagnosis was established based on characteristic bone marrow findings showing Gaucher cells, together with markedly reduced β-glucocerebrosidase activity and elevated chitotriosidase levels. The disease was diagnosed at the age of 11 years, and regular intravenous enzyme replacement therapy was initiated. Treatment was well tolerated and resulted in significant clinical improvement and a marked enhancement in the patient's quality of life. However, genetic confirmation by GBA1 mutation analysis could not be performed due to limited access to molecular testing, which represents an important limitation of this report and prevented precise molecular classification of the disease. This case highlights the importance of early diagnosis and timely initiation of enzyme replacement therapy to prevent severe complications in Gaucher disease. Long-term follow-up studies remain necessary to further evaluate the efficacy and safety of enzyme replacement therapy in this setting. Funding None declared