title: Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome.
abstract: We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn error of protein glycosylation characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuro-radiological investigations revealed cerebellar hypoplasia in all seven children. Two children also developed supratentorial atrophy following episodes of neurological deterioration.
authors.affiliation: Department of Radiology, Rigshospitalet, Copenhagen, Denmark.
authors.forename: P R
authors.initials: PR
authors.lastname: Jensen
authors.forename: F J
authors.initials: FJ
authors.lastname: Hansen
authors.forename: F
authors.initials: F
authors.lastname: Skovby
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000000981:diagnostic imaging*; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed