[Carbohydrate-deficient-glycoprotein syndrome and ophthalmological manifestations].
Nøkkelord
Abstrakt
BACKGROUND
Carbohydrate-deficient-glycoprotein syndromes are new described multisystemic diseases. We report here the case of a young boy who presented with CDG syndrome Ia associated with typical ocular disorders.
METHODS
This 18-month-old boy presented facial dysmorphism, ataxia, hypotonia and cerebellar hypoplasia. Ocular examination showed esotropia with nystagmoid movements and at fundoscopy signs of retinitis pigmentosa with foveal hypoplasia. Photopic and scotopic electroretinograms were altered.
CONCLUSIONS
CDG syndromes are metabolic disorders which affect N-glycoprotein synthesis. Clinical manifestations are various: hypotonia, cerebellar hypoplasia, developmental delay, pericardial effusion, etc. Four variants are described; each of them is associated with particular clinical disorders and prognosis. Ocular features are frequently associated (esotropia, retinitis pigmentosa) and especially in CDG syndrome Ia.
CONCLUSIONS
Esotropia associated with fundus alterations appearing in a multisystemic disorder requires explorations to search for CDG syndrome.
