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Updated: Feb 6, 2026

Isolation and Transplantation of Hematopoietic Stem Cells HSCs
Published on: February 25, 2007
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report
Luisa Sisinni1, Mercedes Pineda2, Maria Josep Coll3
1Pediatric Hematology, Oncology and HSCT Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.
Abstract:
Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme β-glucuronidase. We describe a case of a 2-year-old female affected by a moderate form of MPS VII and submitted twice to HSCT with the aim of stabilizing skeletal problems and preventing neurocognitive alterations. The child underwent a second transplantation due to the rejection of the graft after a reduced-intensity conditioning in the first transplant. A myeloablative regimen allowed to achieve a stable full donor engraftment and normal enzyme levels during the 6 years of follow-up. Clinically, we observed stabilization of skeletal deformities and normal neurocognitive development. This is one of the few reports of mucopolysaccharidosis type VII treated with allogeneic HSCT.
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