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Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler
Author(s) -
Ferrara Giovanna,
Maximova Natalia,
Zennaro Floriana,
Gregori Massimo,
Tamaro Paolo
Publication year - 2014
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.12231
Subject(s) - hurler syndrome , medicine , mucopolysaccharidosis i , hematopoietic stem cell transplantation , enzyme replacement therapy , spinal cord compression , mucopolysaccharidosis , transplantation , lysosomal storage disease , heparan sulfate , dermatan sulfate , spinal cord , glycosaminoglycan , pathology , disease , anatomy , psychiatry
Hurler syndrome type 1 ( MPS ‐1) is an autosomal recessive lysosomal disorder due to the deficiency of the enzyme alpha‐L‐iduronidase which is necessary for the degradation of dermatan and heparan sulfate. It is characterized by deposit of glycosaminoglycans in tissues, progressive multisystem dysfunction, and early death. HSCT for children with MPS ‐I is effective, resulting in increased life expectancy and improvement of clinical parameters. The spinal MRI performed on a female 10 yr old undergoing HSCT at the age of 18 months and receiving ERT revealed a considerable decrease in soft tissue around the tip of odontoid causing a significant reduction in spinal cord compression. In light of this result, we suppose that combined ERT and HSCT are successful in Hurler I disease.