title: White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.
abstract: Mucopolysaccharidosis (MPS) type I (alpha-iduronidase deficiency) is characterized by storage and massive urinary excretion of dermatan sulfate and heparan sulfate; it may be distinguished into three different subtypes based on age at onset and severity of the clinical symptoms. We report on progressive white matter involvement documented by serial MR imaging in a patient with the MPS type I, severe skeletal involvement and preserved mental capabilities (intermediate phenotype or Hurler/Scheie syndrome).The natural history of white matter abnormalities in patients with MPS is still unclear; based on the present study, it appears that degenerative changes of the white matter mimicking a leukodystrophy may mark the course of MPS type I. We also suggest that the degree of MR changes in patients with MPS does not always reflect their neurological impairment.
authors.affiliation: Divisione di Neurologia Pediatrica, Clinica Pediatrica, Università di Catania, Viale Andrea Doria 6-95125, Catania, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.forename: Enrico
authors.initials: E
authors.lastname: Parano
authors.forename: Rosario Rich
authors.initials: RR
authors.lastname: Trifiletti
authors.forename: Agata
authors.initials: A
authors.lastname: Fiumara
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
mesh_terms: D000293:Adolescent; D001284:Atrophy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001851:Bone Diseases, Metabolic / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002552:Cerebral Ventricles / Q000473:pathology / Q000503:physiopathology; D003072:Cognition Disorders / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D003871:Dermatan Sulfate / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D006497:Heparan Sulfate / Q000652:urine; D006801:Humans; D007068:Iduronidase / Q000172:deficiency / Q000235:genetics; D007965:Leukodystrophy, Globoid Cell / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008059:Mucopolysaccharidosis I / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype
chemical_list: D003871:Dermatan Sulfate; D006497:Heparan Sulfate; D007068:Iduronidase