title: Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation.
abstract: We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant.
authors.affiliation: Department of Radiology, Box 292, University of Minnesota Hospital and Clinic, 420 Delaware Street SE, Minneapolis, MN 55455, USA.
authors.forename: S H
authors.initials: SH
authors.lastname: Hite
authors.forename: W
authors.initials: W
authors.lastname: Krivit
authors.forename: S J
authors.initials: SJ
authors.lastname: Haines
authors.forename: C B
authors.initials: CB
authors.lastname: Whitley
mesh_terms: D016026:Bone Marrow Transplantation; D002803:Chondro-4-Sulfatase / Q000378:metabolism; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000378:metabolism; D013595:Syringomyelia / Q000175:diagnosis* / Q000209:etiology*
chemical_list: D006025:Glycosaminoglycans; D002803:Chondro-4-Sulfatase