Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractio...

Full description

Saved in:
Bibliographic Details
Published in:Neuroradiology 1995-08, Vol.37 (6), p.491-495
Main Authors: AKABOSHI, S, OHNO, K, TAKESHITA, K
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Brain Diseases, Metabolic - diagnosis
Brain Diseases, Metabolic - genetics
Brain Stem - pathology
Carbohydrates (enzymatic deficiencies). Glycogenosis
Cerebellum - pathology
Child
Child, Preschool
Congenital Disorders of Glycosylation - diagnosis
Congenital Disorders of Glycosylation - genetics
Errors of metabolism
Female
Follow-Up Studies
Humans
Infant
Magnetic Resonance Imaging
Male
Medical sciences
Metabolic diseases
Neurologic Examination
Olivopontocerebellar Atrophies - diagnosis
Olivopontocerebellar Atrophies - genetics
Tomography, X-Ray Computed
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.
ISSN:0028-3940
1432-1920
DOI:10.1007/BF00600103