Abstrakt
A boy with a distinct clicical symptomatology (psychomotor retardation, microcephaly, multiple dysmorphic features, Ladd´s syndrome, strabismus, nystagmus, myopia, hypertrichosis, etc.) was detected at the agc of 3.5 years by a screening for congenital disorders of (N-) glycosylation (CDG). However, symptoms typical for the most common CDG type Ia (lipodystrophy, inverted nipples and cerebellar hypoplasia) were not present.
The biochemical finding by isoelectric focusing of serum transferrin corresponded to that of the CDG type II, however, next analyses revealed a rare combined defect of N- and O-glycosylation. Without detailed information, the prenatal diagnosis in the next pregnancies was not available; fortunately, both siblings are healthy.