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Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII : A case report
Author(s) -
Sisinni Luisa,
Pineda Mercedes,
Coll Maria Josep,
Gort Laura,
Turon Eulalia,
Torrent Montserrat,
Ey Anna,
Tobajas Eva,
Badell Isabel
Publication year - 2018
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.13278
Subject(s) - mucopolysaccharidosis , medicine , mucopolysaccharidosis type i , transplantation , mucopolysaccharidosis type ii , lysosomal storage disease , neurocognitive , enzyme replacement therapy , haematopoiesis , disease , hematopoietic stem cell transplantation , immunology , stem cell , pediatrics , biology , genetics , psychiatry , cognition
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.