Abstract
A 10-month old girl is described with a serum transferrin isoform abnormality of the
same kind as in two previously reported girls with carbohydrate-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 dysmorphic. She had pale optic discs, thoracic syringomyelia
and frontal lobe atrophy at three months. The CDT value in serum was greatly elevated.
Several carbohydrate-deficient isoforms were found in transferrin (four), a1-antitrypsin (three), antithrombin (two) and thyroxine-binding globulin (four). Mutations
in the CDGS 1-gene were excluded. The CDGS III glycoprotein abnormality most pobably
represents a distinct disorder of glycoprotein metabolism, and needs to be considered
in unclear hypsarrythmia with developmental delay. Dysmorphic features may be added
to this syndrome.
Key words
CDGS - Glycoproteine - Dysmorphy - Hypsarrythmia - Psychomotor delay