Summary

The ‘foetal carbamazepine syndrome’ is characterised by facial dysmorphism associated to cardiovascular, nervous system, urinary tract and skeletal anomalies. The authors present the case of a neonate born to a 33-year-old epileptic woman treated with long term carbamazepine (CMZ) therapy. Four of her pregnancies exposed to the drug showed bad outcomes. The actual pregnancy ended by caesarean section, a female was born showing facial dysmorphism, hypoplasic nails, xyphosis and myelomeningocele. After 7 days of birth, the infant developed severe neutropenia, moderate pulmonary hypertension, multiple organ failure and died. The karyotype was 46, XX. This case represents an example of the wide spectrum of the syndrome and contributes to describe the clinical profile of the ‘foetal carbamazepine syndrome’. The delineation of the foetal carbamazepine syndrome’s phenotype remains incomplete, since many of the clinical manifestations are shared with the effect of others anticonvulsants, therefore further studies are needed to determine the specific noxious effects of CMZ in utero.