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.
MeSH terms
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Adolescent
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Atrophy / etiology
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Atrophy / pathology
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Atrophy / physiopathology
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Bone Diseases, Metabolic / etiology
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Bone Diseases, Metabolic / pathology
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Bone Diseases, Metabolic / physiopathology
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Bone and Bones / metabolism
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Bone and Bones / pathology
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Bone and Bones / physiopathology
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Brain / metabolism
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Brain / pathology*
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Brain / physiopathology
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Cerebral Ventricles / pathology
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Cerebral Ventricles / physiopathology
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Cognition Disorders / etiology
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Cognition Disorders / pathology
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Cognition Disorders / physiopathology
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Dermatan Sulfate / urine
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Diagnosis, Differential
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Female
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Heparitin Sulfate / urine
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Humans
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Iduronidase / deficiency
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Iduronidase / genetics
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Leukodystrophy, Globoid Cell / metabolism
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Leukodystrophy, Globoid Cell / pathology*
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Leukodystrophy, Globoid Cell / physiopathology
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Magnetic Resonance Imaging
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Mucopolysaccharidosis I / metabolism
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Mucopolysaccharidosis I / pathology*
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Mucopolysaccharidosis I / physiopathology
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Nerve Fibers, Myelinated / metabolism
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Nerve Fibers, Myelinated / pathology*
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Phenotype
Substances
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Dermatan Sulfate
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Heparitin Sulfate
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Iduronidase