White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.
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.
Barone
Rita
R
Divisione di Neurologia Pediatrica, Clinica Pediatrica, Università di Catania, Viale Andrea Doria 6-95125, Catania, Italy.
Parano
Enrico
E
Trifiletti
Rosario Rich
RR
Fiumara
Agata
A
Pavone
Piero
P
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
D003871:Dermatan Sulfate; D006497:Heparan Sulfate; D007068:Iduronidase