title: Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome.
abstract: We report the results of a prospective, standardized follow-up programme of eight children (median age at SCT 1.2 yr) with mucopolysaccharidosis (MPS1H, M. Hurler) transplanted using a fludarabine-based SCT. SCT resulted in stable engraftment without transplant-related mortality. All patients are alive, engrafted and in ambulatory care. During follow-up (median five yr, 1.9-8 yr), six of eight showed developmental delay (two severe, two mild/no), all eight had spinal deformities and one received hip surgery for acetabular dysplasia. Hand surgery for carpal tunnel release and trigger digits was required in five of the patients. The cranio-cervical junction was narrowed in four patients, one child having already received surgery. CC was present in all patients prior to SCT. It remained unchanged in seven and regressed in one child. Severe cardiac dysfunction was present in two of the eight children before SCT. Cardiac pump function was normal in six patients and ameliorated in two, while valve abnormalities could be detected in six patients. Currently, transplantation seems no longer the major obstacle for MPS1H patients, but the variable musculoskeletal disease progression after successful SCT remains a challenge. Patients with Hurler syndrome need specialized follow-up care because of their manifold health problems. The standardized follow-up presented here is a step to optimize care for MPS children and their families after SCT.
authors: Department of Paediatric IV Haematology and Oncology, Anna Stift, Berufs-Bildungswerk, Medical University Hannover, Hannover, Germany. grigull.lorenz@mh-hannover.de
authors: Lorenz
authors: L
authors: Grigull
authors: Karl-Walter
authors: KW
authors: Sykora
authors: Andreas
authors: A
authors: Tenger
authors: Harald
authors: H
authors: Bertram
authors: Max
authors: M
authors: Meyer-Marcotty
authors: Hans
authors: H
authors: Hartmann
authors: Eva
authors: E
authors: Bültmann
authors: Andreas
authors: A
authors: Beilken
authors: Miroslaw
authors: M
authors: Zivicnjak
authors: Martin
authors: M
authors: Mynarek
authors: Alexander W
authors: AW
authors: Osthaus
authors: Reinhard
authors: R
authors: Schilke
authors: Katja
authors: K
authors: Kollewe
authors: Thomas
authors: T
authors: Lücke
mesh_terms: D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000503:physiopathology / Q000628:therapy*; D033581:Stem Cell Transplantation; D014184:Transplantation, Homologous