Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report. (9th August 2018)

• Record Type: Journal Article
• Authors: Sisinni, Luisa; Pineda, Mercedes; Coll, Maria Josep; Gort, Laura; Turon, Eulalia; Torrent, Montserrat; Ey, Anna; Tobajas, Eva; Badell, Isabel
• Is Part Of: Pediatric transplantation. Volume 22:Number 7(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-08-09
• Subjects: developmental -- genetics -- haematopoietic stem cell transplantation -- metabolic disorders -- neurology; Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.13278
• Languages: English
• ISSNs: 1397-3142

Abstract

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.