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White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI
Rita Barone1, Enrico Parano, Rosario Rich Trifiletti
1Divisione di Neurologia Pediatrica, Clinica Pediatrica, Università di Catania, Viale Andrea Doria 6-95125, Catania, Italy.
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.
Insights
Mucopolysaccharidosis (MPS) type I involves progressive white matter changes, even with preserved mental abilities. MRI findings may not always correlate with the extent of neurological impairment in MPS patients.
Area of Science:
- Neurology
- Medical Genetics
- Biochemistry
Background:
- Mucopolysaccharidosis (MPS) type I, an alpha-iduronidase deficiency, causes dermatan and heparan sulfate accumulation.
- MPS I presents with varied subtypes based on onset and clinical severity.
Observation:
- Serial MRI documented progressive white matter involvement in an MPS I patient.
- This patient exhibited severe skeletal issues but maintained cognitive function (Hurler/Scheie syndrome).
Findings:
- White matter abnormalities in MPS I can mimic leukodystrophy, suggesting a degenerative course.
- The severity of MRI changes may not directly reflect the degree of neurological impairment in MPS I.
Implications:
- Understanding the natural history of white matter changes is crucial for MPS I management.
- MRI findings should be interpreted cautiously alongside clinical neurological assessments in MPS I.