Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia

J Paediatr Child Health. 1997 Dec;33(6):531-4. doi: 10.1111/j.1440-1754.1997.tb01665.x.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Congenital Disorders of Glycosylation / complications*
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / pathology
  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Transferrin / chemistry


  • Transferrin