[Epilepsy in three children with Wolf-Hirschhorn syndrome].
OBJECTIVE
Wolf-Hirschhorn syndrome (4p detetion) belongs to the group of disorders caused by chromosomal aberrations, associated with frequent occurrence of epilepsy. To illustrate phenotype - genotype association, the study presents 3 children with this syndrome and epilepsy.


METHODS
The diagnosis of Wolf-Hirschhorn syndrome was established in 2 patients during neonatal period and in the third child, the 5 month of life. In the majority of patients characteristic phenotype and associated malformations were detected, and the low birth weight and fronto-temporal diameter of the head as well. The structural neuroimaging revealed the diffuse decrease of brain volume without neurodevelopmental malformations. The earliest manifestation of epilepsy was observed in the 4 month old child with 4p. microdeletion as a status epilepticus. In remaining two children with 4p deletion, generalised tonic-clonic seizures were observed for the first time in the 7th month and 7th year, respectively. The standard EEG was performed in infants, while in the 7 year old child a-one-hour videoEEG was recorded.


RESULTS
In older children diazepam and clona-zepam were effective to abort seizures, patients became seizure free on carbamazepin and phenobarbital. In the youngest child, status epilepticus being resistant to benzodiazepins, was interrupted with difficulties. Despite generalised type of seizures, EEG revealed focal changes of bioelectrical activity of the brain in two children. In the 7 month old child there were high voltage slow waves in the parieto-temporo-occipital region, while in the 7 year old child videoEEG demonstrated inter-hemispheric asymmetry and asynchrony, and the presence of epileptic grapho-elements, such as spikes and the spike-slow wave complexes as well.


CONCLUSIONS
Epilepsy appeared in children with Wolf-Hirschhorn syndrome with deletion and microdeletion. Status epilepticus in this syndrome may be resistant to benzodiazepins.
Kaciński
Marek
M
Klinika Neurologii Dzieciecej, P-A Instytutu Pediatrii Wydziału Lekarskiego, Collegium Medicum, Uniwersytetu Jagiellońskiego, Kraków. neupedkr@cm-uj.krakow.pl
Kostyk
Ewa
E
Kruczek
Anna
A
Skowronek-Bała
Barbara
B
D001921:Brain / Q000503:physiopathology; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004351:Drug Resistance; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome