Article
Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes.
Neuroradiology - 1 Jan 1992
Gabrielli O, Salvolini U, Maricotti M, Mariani M G, Coppa G V, Giorgi P L
Abstract excerpt
We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, but the younger is severely mentally retarded while the elder is of normal intelligence. MRI shows characteristic abnormalities in the CNS, but it is not yet possible to es...
Topics
- Adolescent
- Brain Diseases, Metabolic
- Cerebellum
- Cerebral Ventricles
- Humans
- Iduronidase
- Intellectual Disability
- Magnetic Resonance Imaging
- Male
- Mucopolysaccharidosis I
- Phenotype
- Thalamus
