title: Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.
abstract: To report the first case of carbohydrate deficient glycoprotein syndrome Type I (CDG I) that has been identified in Australia and confirmed enzymatically to raise the awareness of paediatricians with regard to CDG I and its manifestations, implications and diagnostic investigations. Clinical and autopsy findings of an infant with CDG I are presented. The diagnosis of CDG I was suggested by the clinical findings and biochemical abnormalities and was confirmed by showing an abnormal transferrin isoform pattern. Subsequent studies showed a reduced level of phosphomannomutase in skin fibroblasts. Carbohydrate-deficient glycoprotein syndrome I is one of the many causes of cerebellar hypoplasia. It is an important disorder to identify because of the prognostic and genetic implications and may be underdiagnosed in Australia.
authors.affiliation: Department of Clinical Genetics, New Children's Hospital, Parramatta, New South Wales, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Worthington
authors.forename: S
authors.initials: S
authors.lastname: Arbuckle
authors.forename: P
authors.initials: P
authors.lastname: Nelson
authors.forename: W
authors.initials: W
authors.lastname: Carey
authors.forename: A
authors.initials: A
authors.lastname: Lipson
authors.forename: E
authors.initials: E
authors.lastname: Fagan
mesh_terms: D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D014168:Transferrin / Q000737:chemistry
chemical_list: D014168:Transferrin