[Phacomatoses: structural substare of epilepsy].

OBJECTIVE

Evaluation of frequency and characteristics of seizures in the most frequent phacomatoses and assessment of relationship between fits and structural changes in CNS.

METHODS

135 children with tuberous sclerosis (TS), 73 with NF-1 and 30 with Sturge-Weber syndrome took part in the study. Except for careful anamnesis in all patients with fits were done brain CT or MR studies.

RESULTS

Seizures were reported in 128 of 135 (95%) patients with TS, usually, between 3rd and 6th month of life. Their early presentation was related to developmental delay. Cortical and subcortical lesions detected in neuroimaging studies were responsible for drug-resistant epilepsy in the children. 13 of 73 (18%) children with NF-1 had seizures. In 9 of them CNS lesions were detected on neuroimaging. In Sturge-Weber syndrome inherited meningo-encephalic lesions correlated with hemilateral seizures, even in first months of life. Most children did not show apparent developmental delay.

CONCLUSIONS

Epileptic seizures in phacomatoses had their own specificity. They were correlated with structural lesions in CNS.