AIM: To follow-up six children with severe mucopolysaccharidosis type IH, Hurler syndrome, who were treated before 24 months of age with haematopoietic stem cell transplantation. METHODS: In Sweden, during the last 10-year period, six consecutive children born with severe mucopolysaccharidoses type IH have been successfully transplanted using matched unrelated donors between the ages of 11 and 24 months (mean age 18 months). Three children received intravenous enzyme replacement therapy once a week, from diagnosis until engraftment of their bone marrow. RESULT: Two children developed chimerism and a progressive increase in recipient cells and later received a successful re-transplantation. One to two years after transplantation the children demonstrated some developmental delays in cognitive function. Latterly this was followed by normalization. Orthopaedic operations on the spine and hips and carpal tunnel syndrome were still required following transplantation. Cardiac valve involvement remained progressive in the children. CONCLUSION: The outcome of six children in this study confirms that early haematopoietic stem cell transplantation in mucopolysaccharidosis type I, Hurler syndrome, preserves an affected child's mental ability. Consequently, it is essential that clinical recognition and early diagnosis take place, providing an additional challenge to paediatricians treating this condition.
AIM: To follow-up six children with severe mucopolysaccharidosis type IH, Hurler syndrome, who were treated before 24 months of age with haematopoietic stem cell transplantation. METHODS: In Sweden, during the last 10-year period, six consecutive children born with severe mucopolysaccharidoses type IH have been successfully transplanted using matched unrelated donors between the ages of 11 and 24 months (mean age 18 months). Three children received intravenous enzyme replacement therapy once a week, from diagnosis until engraftment of their bone marrow. RESULT: Two children developed chimerism and a progressive increase in recipient cells and later received a successful re-transplantation. One to two years after transplantation the children demonstrated some developmental delays in cognitive function. Latterly this was followed by normalization. Orthopaedic operations on the spine and hips and carpal tunnel syndrome were still required following transplantation. Cardiac valve involvement remained progressive in the children. CONCLUSION: The outcome of six children in this study confirms that early haematopoietic stem cell transplantation in mucopolysaccharidosis type I, Hurler syndrome, preserves an affected child's mental ability. Consequently, it is essential that clinical recognition and early diagnosis take place, providing an additional challenge to paediatricians treating this condition.
Authors: Elsa G Shapiro; Igor Nestrasil; Kyle Rudser; Kathleen Delaney; Victor Kovac; Alia Ahmed; Brianna Yund; Paul J Orchard; Julie Eisengart; Gregory R Niklason; Julian Raiman; Eva Mamak; Morton J Cowan; Mara Bailey-Olson; Paul Harmatz; Suma P Shankar; Stephanie Cagle; Nadia Ali; Robert D Steiner; Jeffrey Wozniak; Kelvin O Lim; Chester B Whitley Journal: Mol Genet Metab Date: 2015-06-17 Impact factor: 4.797
Authors: David A Stevenson; Kyle Rudser; Alicia Kunin-Batson; Ellen B Fung; David Viskochil; Elsa Shapiro; Paul J Orchard; Chester B Whitley; Lynda E Polgreen Journal: J Pediatr Rehabil Med Date: 2014
Authors: A S Kunin-Batson; E G Shapiro; K D Rudser; C A Lavery; K J Bjoraker; S A Jones; R F Wynn; A Vellodi; J Tolar; P J Orchard; J E Wraith Journal: JIMD Rep Date: 2016-01-30