Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome

• 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
• ISSN: 0028-3940; 1432-1920
• DOI: 10.1007/BF00600103

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.