Rett syndrome – report on patients with classical type

Rett syndrome (RS) is a progressive neurodevelopmental disorder, which occurs almost exclusively in girls. The clinical features are: acquired microcephaly, mental retardation, autistic behavior, ataxia, stereotype hand movements and loss of their purposeful function. Epilepsy occurs in 70-80% girls with Rett syndrome. Changes in the EEG precedes the clinical onset of epileptic seizures, being typical for Rett syndrome: normal brain EEG activity at the initial stage, followed by slowing down of background cerebral activity, loss of NREM sleep features, and epileptic discharges at the advanced stages firstly expressed during sleep and later awake. We report on 15 Rett syndrome girls aged 5-23 years, who had clinical follow up from 3 to 19 years. All the patients met the clinical criteria of typical RS. 13 out of 15 girls examined have epileptic seizures (generalized tonic-clonic, tonic and/or myclonic) . Two out of 15 patients with RS are still seizure free, but have epileptic discharges on EEG. Epileptic fits are intractable in all the patients and therefore treated by various antiepileptic drugs, with valproate being the most commonly drug used. Stabilization of epileptic fits was obtained in 8 of 13 RS patients with epilepsy.