Abstracts

Rationale: Kabuki syndrome (KS) is a rare dysmorphogenic disorder characterised by multiple congenital abnormalities; central nervous system is often involved: mental retardation is always present while epilepsy is frequently reported. The diagnosis is clinical and currently no typical electroclinical pattern or epilepsy has been characterised. We studied natural history of seizures and electroclinical patterns of eight patients with Kabuki’s syndromeMethods: Eight caucasian patients (five females e three males) with Kabuki syndrome associated with epilepsy were referred to Epilepsy Center of Fatebenefratelli Hospital in for epileptological assessment. The diagnosis of Kabuki syndrome was based on the clinical and phenotypical assessments according to the” Summary of major and minor features of Kabuki syndrome “ criteria ( Niikawa et al, Kuroki et al, 1981). A detailed medical history, including seizure history were obtained for each patient. Seizures and epilepsy were classified according to criteria of All patients had one or more polymiographic and Video EEG recordings performed during wakefulness and during sleep; EEG activity was recorded according to the International 10-20 System and Electromyographic (EMG) activity were recorded by surface electrodes. In each case, age at onset of epilepsy, seizures type, EEG abnormalities and outcome were analysed by skilled epileptologists. MRI brain study was performed with Philips in all patients (performed on T1-weighted images, T2- weighted images proton density images and 1-3 mm thick coronal fluid attenuated inversion recovery images). Results: Mean age at seizure onset was 2.7 years (range 4 th day of life - 6 yrs ) and on follow up the mean duration of epilepsy was 9.3 years (range 3-15 yrs.) Seizures semeiology All patients had focal motor seizures in awakening, sometimes the onset was with head and eye deviation and automatisms, otherwise secondarily generalized EEG pictures Interictal activity consists in : 1) frontal and frontotemporal slow waves in all patients; 2) a pattern of biphasic sharp and slow wave of medium or high voltage , isolated in fronto-centro-temporal regions in six patients and in fronto-centro and occipital temporal regions in one patient. Ictal EEG shows: (1) frontal epileptic status consisting of discharges of continuous frontal bilateral spike and polyspike waves associated with mild confusional status and expressive dysphasia, promptly interrupted by administration of intravenous diazepam. 2) focal seizures followed by spasms with frontal theta rhythmic activity Conclusions: Our data support the hypothesis that epilepsy in Kabuki syndrome is predominantly focal. Furthermore seven of our eight patients shared the same interictal EEG pattern characterized by isolated or repetitive sharp and slow waves paroxisms in the frontocentral and centrotemporal area, suggesting a genetic trait.