CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A CAUSE OF CEREBELLAR VERMIS HYPOPLASIA

To report the first case of carbohydrate deficient glycoprotein syndro me 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 investigatio ns. Clinical and autopsy findings of an infant with CDG I are presente d, The diagnosis of CDG I was suggested by the clinical findings and b iochemical abnormalities and was confirmed by showing an abnormal tran sferrin isoform pattern. Subsequent studies showed a reduced level of phosphomannomutase in skin fibroblasts. Carbohydrate-deficient glycopr otein syndrome I is one of the many causes of cerebellar hypoplasia. I t is an important disorder to identify because of the prognostic and g enetic implications and may be underdiagnosed in Australia.