Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.

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 ß-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.