Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler.
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.
University of Trieste, Trieste, Italy.
Giovanna
G
Ferrara
Natalia
N
Maximova
Floriana
F
Zennaro
Massimo
M
Gregori
Paolo
P
Tamaro
D016026:Bone Marrow Transplantation; D002648:Child; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use* / Q000652:urine; D008279:Magnetic Resonance Imaging; D008059:Mucopolysaccharidosis I / Q000628:therapy*; D009809:Odontoid Process / Q000503:physiopathology; D013117:Spinal Cord Compression / Q000628:therapy*; D016896:Treatment Outcome
D006025:Glycosaminoglycans; D007068:Iduronidase
Hurler I; bone marrow transplantation; spinal cord compression