• Siawosh K Eskandari, Elisabeth G M Revenich, Dirk J Pot, Foekje de Boer, Marc Bierings, Francjan J van Spronsen, Peter M van Hasselt, Caroline A Lindemans, and Charlotte M A Lubout.
• From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands.
• N. Engl. J. Med. 2024 Feb 15; 390 (7): 623629623-629.

AbstractWolman'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.Copyright © 2024 Massachusetts Medical Society.

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