A 2-year-old boy has hepatosplenomegaly, progressive bone pain, pathological fractures, and pancytopenia. Bone marrow biopsy shows 'wrinkled paper' (Gaucher) cells. Enzyme assay confirms glucocerebrosidase deficiency. Which is the MOST EFFECTIVE disease-modifying therapy for Type 1 Gaucher disease?

• A Substrate reduction therapy with miglustat as first-line treatment for all ages
• B Enzyme replacement therapy (ERT) with imiglucerase or velaglucerase alfa given intravenously ✓
• C Bone marrow transplantation as it is curative for all three types of Gaucher disease
• D High-dose corticosteroids to reduce inflammatory infiltration of bone marrow

Explanation

Enzyme replacement therapy (ERT) with recombinant glucocerebrosidase (imiglucerase, velaglucerase, or taliglucerase) is the gold-standard treatment for Type 1 Gaucher disease, reducing visceral involvement, bone marrow infiltration, and cytopenia. Miglustat (substrate reduction therapy) is approved but reserved for patients who cannot receive ERT due to tolerability issues, and is not approved in children under 2 years. Bone marrow transplantation is not standard and does not reverse neurological involvement in Types 2 and 3. Corticosteroids are not disease-modifying.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.