Early Onset, But Late Diagnosis of a Rare Disease

*Corresponding author: Pamela Farah*, Pascale Daniel, Georges El Khoury, Rami El Rachkidi, and Aline Tohme

Abstract

One of the most common sphingolipidosis, Gaucher disease (GD) remains rare till date. A case report of a 56-year-old patient diagnosed with GD is presented herein. Her sister was known to have Gaucher disease. Her personal medical record consisted of splenectomy, anemia, recurrent infections, and bone lesions at a young age. Taking into consideration her personal and familial history, the clinical and paraclinical examinations, she was diagnosed with Gaucher disease which was confirmed with enzyme and gene testing. Upon introduction of specific enzyme replacement treatment for Gaucher patients,much evidence demonstrated the substantial improvement of hematological and visceral parameters. However, it has been observed that the bone tissue does not respond equally to the treatment.
Learning Points
• The physician should always investigate the splenomegaly of unknown etiology before deciding to do a splenectomy
• Bone lesions in Gaucher disease are sometimes irreversible, hence the importance of early diagnosis of this rare disease
Keywords
Gaucher disease; Bone lesion; Splenomeagly.
Acronyms
GD: Gaucher disease; Hb: Hemoglobin; MRI: Magnetic resonance imaging; ERT: Enzyme replacement therapy.