Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes

O Gabrielli; U Salvolini; M Maricotti; M G Mariani; G V Coppa; P L Giorgi

doi:10.1007/BF00588189

Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes

Neuroradiology. 1992;34(4):313-5. doi: 10.1007/BF00588189.

Authors

O Gabrielli¹, U Salvolini, M Maricotti, M G Mariani, G V Coppa, P L Giorgi

Affiliation

¹ Department of Paediatrics, University of Ancona, Italy.

PMID: 1528441
DOI: 10.1007/BF00588189

Abstract

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 establish a correlation between them and the mental retardation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Brain Diseases, Metabolic / diagnosis
Brain Diseases, Metabolic / genetics*
Cerebellum / pathology
Cerebral Ventricles / pathology
Humans
Iduronidase / deficiency
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Magnetic Resonance Imaging*
Male
Mucopolysaccharidosis I / diagnosis
Mucopolysaccharidosis I / genetics*
Phenotype*
Thalamus / pathology

Substances

Iduronidase