I CONGRESO DIGITAL AEP. Libro de comunicaciones y casos clínicos

850 ISBN: 978-84-09-24491-1 ÁREA DE ESPECIALIDAD • NEUROLOGÍA ASOCIACIÓN ESPAÑOLA DE PEDIATRÍA CASO CLÍNICO. Intellectual developmental disorder and a rare form of epilepsy: case report Adriana Silva Formiga 1 , Cristina Pereira 2 , Conceição Robalo. 2 , Teresa Mota Castelo 2 1 Serviço de Pediatría, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal 2 Serviço do Centro de Desenvolvimento da Criança, Hospital Pediátrico-Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal INTRODUCCIÓN Intellectual development disorder and epilepsy can occur together due to multiple etiologies. Children with intellectual disability have a 25% lifetime risk of developing epilepsy. Conversely, 20% of children with epilepsy will also have an intellectual disability. Both conditions have significant physical, social and psychological consequences. RESUMEN DEL CASO A 9-year-old boy presented at a Pediatric Neurode- velopment Appointment with learning disabilities, mainly in the acquisition of reading and writing skills. He had poor academic performance and lack of motivation for school activities. A psychological assessment had been carried out at school, reveal- ing a very low-IQ global score. No educational in- terventions had been previously implemented. In addition, his mother described recurrent rhythmic movements of upper limbs, sometimes associated with eyelid blinking, for the past 6 years. They were interpreted by the family as tics. These episodes had an abrupt onset and termination, only lasted a few seconds, and the child seemed oblivious during them. Events occurred almost daily, mainly in the morning, and were countless. Child growth stand- ards were regular, but development milestones were difficult to access. Both parents have had learning difficulties, and the mother was followed in childhood due to absence epilepsy. Complete physi- cal examination including neurological exam, had no abnormal findings. The electroencephalogram (EEG) showed generalised, synchronous 3 Hz spike- and-wave discharges with a constant relationship between the bilateral myoclonic jerks and spike- and-waves (figure 1). An electroclinical diagnosis of epilepsy with myoclonic absences (EMA) was con- sidered and treatment was initiated with sodium valproate (30 mg/kg/day). CONCLUSIONES Y COMENTARIOS EMA is a rare epilepsy syndrome (0,5-1% of all epi- lepsies) with distinctive but easilymisinterpreted sei- zures. The peak onset age is 3–7 years, with a male predominance. Approximately 44% of children with EMA have intellectual disability prior to the onset of the seizures, and literature describes that mental abilities do not worsen in children with rapid remis- sion of myoclonic absences. The long duration of myoclonic absences prior to treatment is likely to play a significant role in the occurrence of intellec- tual disability. Early diagnosis and treatment of EMA is essential in reducing the biopsychosocial impact of intellectual development disorder. Awake ictal EEG showing generalised 3-3.5 Hz spike-and-wave discharges followed by myoclonic jerks.