A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III

A 10-month old girl is described with a serum transferrin isoform abnormali ty of the same kind as in two previously reported girls with carbohydrate-d eficient glycoprotein syndrome type III. This patient presented with joint abnormalities and rapidly developing hypsarrythmia, hypotonia, psychomotor delay and growth retardation. Fingers, toes, nails and local skin were dysm orphic, She had pale optic discs, thoracic syringomyelia and frontal lobe a trophy at three months. The CDT value in serum was greatly elevated. Severa l carbohydrate-deficient isoforms were found in transferrin (four), alpha(1 )-antitrypsin (three), antithrombin (two) and thyroxine-binding globulin (f our), Mutations in the CDGS 1-gene were excluded. The CDGS III glycoprotein abnormality most pobably represents a distinct disorder of glycoprotein me tabolism, and needs to be considered in unclear hypsarrythmia with developm ental delay. Dysmorphic features may be added to this syndrome.