A 6-month-old infant presents with hepatosplenomegaly, hypotonia, failure to thrive, and a cherry-red spot on fundoscopy. Bone marrow biopsy shows lipid-laden macrophages (Gaucher cells). Enzymatic analysis shows deficiency of glucocerebrosidase. Which treatment is currently available for this condition?
- A Enzyme replacement therapy (imiglucerase/velaglucerase) ✓
- B Bone marrow transplantation only
- C No disease-modifying therapy; supportive care only
- D Substrate reduction therapy with miglustat as first-line
Explanation
Gaucher disease type 1 (non-neuronopathic) and type 3 (chronic neuronopathic) are treated with enzyme replacement therapy (ERT) — imiglucerase, velaglucerase alfa, or taliglucerase alfa — which is the first-line treatment. ERT effectively reduces organomegaly, improves haematological parameters, and prevents skeletal complications. Substrate reduction therapy (miglustat or eliglustat) is used when ERT is not feasible or as add-on therapy. Type 2 (acute neuronopathic Gaucher disease, presenting with cherry-red spot and rapid neurodegeneration) has no effective disease-modifying therapy. The question describes features more consistent with type 1 or 3.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.