High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
case_report · Level V
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- Record sourced from PubMed, PMID 38354141.
- Also identified by DOI 10.1056/NEJMoa2313398.
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Abstract
Wolman's disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman's disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.
Medical subject headings
- Dietary Fats
- Enzyme Replacement Therapy
- Hematopoietic Stem Cell Transplantation
- Immunologic Factors
- Rituximab
- Wolman Disease