Pediatria pre prax 6/2014

Angelman syndrome, cause of epilepsy in infants

Several chromosomal syndromes include brain dysfuction symptoms as mental retardation, developmental speech disorders and epilepsy. Authors present a case report of Angelman syndrome – neurobehavioral disorder associated with deletion in the maternal chromosome 15q 11-g13 causing mutation of the UBE3A gene. The main features consist of psychomotor retardation, developmental speech disorder, ataxia, tremor, hyperactivity, clapping hands, inadequate laughter and happiness, attention deficit and epilepsy. The later starts before the 3rd year of age in form of atypical absences, myoclonic and generalized tonic-clonic seizures. EEG typically shows episodes of slow activity with sharp waves occipitally. Prognosis is poor. Genetic syndromes importantly contribute to the etiology of epilepsy with early seizures.

Keywords: Angelman syndrome, UBE3A gene, epileptic seizures, EEG findings, infants.