A team from Apollo Hospitals in Chennai, India, reports a case of infantile Wolman disease, a subtype of lysosomal acid lipase deficiency (LAL-D), successfully treated with hematopoietic stem cell transplantation (HSCT) from a matched unrelated donor, in the Pediatric Hematology Oncology Journal.
One year after HSCT, the infant showed 100% donor chimerism and good performance status.
“Early referral before organ damage, a treosulfan-based reduced toxicity regimen, and a multidisciplinary team with pediatric endocrinologists, intensive care and transplant physicians working together as a team is the key to success,” the authors said.
The infant was infused with fully matched peripheral blood stem cells from an unrelated donor found in India’s largest unrelated blood stem cell donors registry, the DATRI Blood Stem Cell Donors Registry. He had completed a 7-day myeloablative conditioning regimen (thiotepa, treosulfan, fludarabine, and horse antithymocyte globulin) prior to transplantation. Moreover, he received a combination of cyclosporine and methotrexate for prophylaxis of graft-versus-host disease.
Postinfusion monitoring showed neutrophil engraftment on day 14. The infant developed moderate sinusoidal obstruction syndrome, chronic hyponatremia, and hyperkalemia. He was supplemented with hydrocortisone and fludrocortisone for primary hypoaldosteronism.
He presented with grade I skin graft-versus-host disease on his post-HSCT follow-up visit and required prednisolone and topical corticosteroid ointment. Moreover, he required red cell transfusion support due to major blood group incompatibility with the donor. His liver function tests returned to normal. He was given a weaning diet to reduce cholesterol and triglycerides.
Before transplant, the infant tested positive for SARS-CoV-2, the virus responsible for COVID-19, and Mycobacterium tuberculosis. He was initiated on the 4-drug antitubercular medications (isoniazid, ethambutol, levofloxacin, and rifampicin) to treat the tuberculosis. He remained positive for SARS-CoV-2 during pretransplantation conditioning chemotherapy but tested negative on post-HSCT follow-up.
The infant was diagnosed with Wolman disease at 3 months of age. He had 2 siblings that died from Wolman disease at 1 to 2 months of age. At clinical admission, he had a history of failure to thrive and diarrhea.
Jayakumar I, Gude A, Renangi M, et al. Successful matched unrelated donor hematopoietic stem cell transplantation for infantile Wolman disease. Pediatr Hematol Oncol J. Published online November 2, 2022. doi:https://doi.org/10.1016/j.phoj.2022.10.251