1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-69-a 10.15844/pedneurbriefs-6-9-6 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Mucopolysaccharidosis: MRI Study http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 1992 01 07 2016 6 9 69 69 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes

Characteristic changes in the MRI of 2 brothers with mucopolysaccharidosis type I are reported from the Departments of Paediatrics, Neuroradiology and Neurology, University of Ancona, Italy.

 Mucopolysaccharidosis Type I Hypoplasia Cerebrospinal Fluid

Characteristic changes in the MRI of 2 brothers with mucopolysaccharidosis type I are reported from the Departments of Paediatrics, Neuroradiology and Neurology, University of Ancona, Italy. One patient was mentally retarded and the other had a normal IQ. The MRI showed a honeycomb-like appearance of the thalami, hypoplasia of the cerebellum and an enlarged ventricular system, with changes in the white matter behind the occipital horns. These changes were not correlated with the mental retardation. [1]

COMMENT. Glycosaminoglycans and glycolipids accumulate in the cells of the central nervous system in mucopolysaccharidosis type I. It is suggested that the mental retardation could be tied to neuronal damage caused by lysosomal storage of these substances. The cell biology of glycosaminoglycans in regulating normal cerebrospinal fluid absorption is reviewed by Knepper PA and McLone DG, Children’s Memorial Hospital and Northwestern University Medical School, Chicago. [2]

 Gabrielli O Salvolini U Maricotti M Mariani MG Coppa GV Giorgi PL Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes Neuroradiology 1992 34 4 313 315 10.1007/BF00588189 1528441 Knepper PA McLone DG Glycosaminoglycans and outflow pathways of the eye and brain Pediatr Neurosci 1986 12 4-5 240 251 3916537