title: Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report.
abstract: I-cell disease or mucolipidosis type II, a rare inherited storage disorder of lysosomal enzyme localization, is characterized by dysostosis multiplex, progressive severe psychomotor retardation and death by 5-8 years from congestive heart failure and recurrent pulmonary infections. A 19-month old girl with I-cell disease received a bone marrow transplant (BMT) from an HLA-identical carrier brother. At the age of 7 years, 5 years after BMT, she has no history of respiratory infections. Her cardiac function remains normal with a shortening fraction of 47%, and she continues to gain neurodevelopmental milestones, albeit at a very slow rate. Musculoskeletal deformities have worsened despite BMT. This is the first report describing neurodevelopmental gains and prevention of cardiopulmonary complications in I-cell disease after BMT.
authors.affiliation: Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA. grewa002@umn.edu
authors.forename: S
authors.initials: S
authors.lastname: Grewal
authors.forename: E
authors.initials: E
authors.lastname: Shapiro
authors.forename: E
authors.initials: E
authors.lastname: Braunlin
authors.forename: L
authors.initials: L
authors.lastname: Charnas
authors.forename: W
authors.initials: W
authors.lastname: Krivit
authors.forename: P
authors.initials: P
authors.lastname: Orchard
authors.forename: C
authors.initials: C
authors.lastname: Peters
mesh_terms: D016026:Bone Marrow Transplantation; D002657:Child Development; D003071:Cognition; D005260:Female; D006321:Heart / Q000502:physiology; D006333:Heart Failure / Q000517:prevention & control; D006801:Humans; D007223:Infant; D009081:Mucolipidoses / Q000150:complications* / Q000628:therapy*; D009140:Musculoskeletal Diseases / Q000209:etiology; D012141:Respiratory Tract Infections / Q000517:prevention & control; D014184:Transplantation, Homologous; D016896:Treatment Outcome