title: Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation.
abstract: An 11-year-old girl with mucopolysaccharidosis I Scheie phenotype (MPS I-S) received a bone marrow transplant (BMT) from her heterozygous HLA-identical LMC-non-reactive mother. Multidisciplinary studies were carried out and results evaluated 21 months after transplantation. Herein we report the ultrastructural findings pre- and post-BMT in skin. Multidisciplinary studies are commonly used to evaluate the benefits of metabolic correction following BMT in some MPS and other inherited metabolic disorders, and changes in morphology have been described in liver and few other tissues. In this case, we elected skin, since connective tissue is universally involved in MPS and is safely and easily obtainable. Comparison of skin biopsy specimens taken before and after BMT showed a considerable change in dermal fibroblast morphology, with marked reduction in cell size and the number and size of abnormal lysosomes, thus indicating the clearance of storage. Our results demonstrate that dermal cells respond to enzyme replacement therapy in MPS I-S, with the clearance of glycosaminoglycan lysosomal accumulation in connective tissue fibroblasts, which had near-normal morphology 21 months after BMT. Therefore, the practice of skin biopsy after BMT in MPS and other metabolic disorders in which dermal cells are involved should be encouraged.
authors.affiliation: Division of Neuropathology, Hospital Infantil, Ciudad Sanitaria Valle de Hebrón, Universidad Autónoma, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Navarro
authors.forename: C
authors.initials: C
authors.lastname: Dominguez
authors.forename: M
authors.initials: M
authors.lastname: Costa
authors.forename: J J
authors.initials: JJ
authors.lastname: Ortega
mesh_terms: D016026:Bone Marrow Transplantation; D002648:Child; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000097:blood; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000473:pathology / Q000601:surgery*; D012016:Reference Values; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*
chemical_list: D007068:Iduronidase