Rett syndrome: a case presenting with atypical seizures. Neurophysiological and clinical aspects.

OBJECTIVE

To describe a specific electroclinical type of epileptic seizure in a patient with Rett syndrome.

PATIENT AND

METHODS

We present the case of a girl with Rett syndrome and epilepsy, whose seizures followed two differentiated phases, namely (a) a brief hypertonic onset with tonic-axial predominance, followed by (b) a posterior prolonged clinical absence. These two phases were associated, respectively, to a paroxystic desynchronisation or generalised rapid spikes discharges, followed by a critical slow activity.

CONCLUSIONS

The epileptic seizures described in this report have not been previously documented in Rett syndrome. We review and discuss pathophysiological hypotheses in the light of this and previously reported cases of the syndrome.