Article
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.
Journal of the neurological sciences - 30 Mar 2002
Barone Rita, Parano Enrico, Trifiletti Rosario Rich, Fiumara Agata, Pavone Piero
Abstract excerpt
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...
Topics
- Adolescent
- Atrophy
- Bone Diseases, Metabolic
- Bone and Bones
- Brain
- Cerebral Ventricles
- Cognition Disorders
- Dermatan Sulfate
- Diagnosis, Differential
- Female
- Heparitin Sulfate
- Humans
- Iduronidase
- Leukodystrophy, Globoid Cell
- Magnetic Resonance Imaging
- Mucopolysaccharidosis I
- Nerve Fibers, Myelinated
- Phenotype