Epilepsy and electroencephalographic features in trisomy 13: A case report and review of literature

WCN 2013 No: 2502 Topic: 1 — Epilepsy Epilepsy and electroencephalographic features in trisomy 13: A case report and review of literature I. Ayadi, I. Hsairi, N. Belguith, E. Ellouze, H. Ben Othmen, F. Kammoun, H. Kammoun, C. Triki. Department of Child Neurology, University of Sfax, Medecine Faculty, Sfax, Tunisia; Department of Genetics, University of Sfax, Medecine Faculty, Sfax, Tunisia Background: Trisomy 13 (T13) is associated with considerable phenotypic variability but there have been no detailed descriptions of the characteristics of T13-related epilepsy. Objective: The aim of this study is to describe seizures and EEG features in a patient with T13. Material and methods: Clinical analysis included phenotypic examination, brain MRI, and EEG studies, and karyotype study. Results: She was a 2 year old girl. She showed an extremely delayed psychomotor development. Epilepsy takes place at 6 months; seizures were characterized by staring, a respiratory arrest and symmetric hypertonia of four limbs. Neurological examination at the age of 1 year, revealed a global hypotonia and dysmorphic features: trigonocephaly, microphthalmia, tall forehead, bulbous nose, and high arched palate. Interictal EEG shows right temporal spikes. MRI showed mild anoxo-ischemia lesion. Karyotype studies confirmed free trisomy 13 known as Patau's syndrome. A treatment including valproic acid was started. At the age of 2 years, she present with generalized spasms. Sleep EEG showed hypsarythmia. A treatment by vigabatrin was successful. Conclusion: There was only isolated case reports described with epilepsy on chromosome 13. The relatively low incidence of epilepsy in patients with trisomy13 is probably explained by the poor survival rates of this aberration. Epilepsy is generally focal and began in the neonatal period or early infancy like our patient. But to our knowledge this is the first report of a late onset West syndrome in T13. T13 probably caused epilepsy due to a dosage effect resulting from the addition of normal genetic sequences. doi:10.1016/j.jns.2013.07.175 Abstract — WCN 2013 No: 2500 Topic: 1 — Epilepsy Negativemyoclonus of epileptic origin in associationwith bilateral subdural hematoma WCN 2013 No: 2500 Topic: 1 — Epilepsy Negativemyoclonus of epileptic origin in associationwith bilateral subdural hematoma I. Cordeiro, C. Silva, R. Peralta, C. Bentes. Hospital de Faro, Faro; Hospital de Santa Maria, Lisbon, Portugal Background: Negative myoclonus (NM) is a motor phenomenon characterized by a jerky involuntary movement caused by a brief and sudden interruption of tonic muscle activity. It frequently occurs in association with metabolic encephalopathies. NM of epileptic nature (ENM) is defined as a brief interruption of tonic muscle activity, time-locked to a spike or epileptic transient on the EEG, without evidence of an antecedent positive myoclonus. Objective: Case report and review of the literature. Results: 58 year-old man with history of intracranial hypertension submitted to ventriculoperitoneal shunting, was brought to the emergency room with somnolence and involuntary movements of the upper limbs. At examination the patient was drowsy, aphasic, with a right hemiparesis and right Babinski sign. He presented continuous distal bilateral myoclonic jerks, characterized by a sudden and brief drop of the upper limb, compatible with NM. Brain CT scan revealed 2 subdural hematomas — right fronto-temporal and left high convexity. Angiography confirmed the presence of several dural fistulae. The EEG detected signs of right hemispheric dysfunction, frontal and frontotemporal slow wave activity. The EMG recording confirmed the presence of atonia in relation to the myoclonus. At back-average analysis, these movements were preceded by a frontal and anterior temporal, bilateral, slow wave, suggestive of a cortical origin. Conclusion: We present an uncommon case of ENM in association with a bilateral subdural hematoma, underlying the importance of distinguishing this type of NM and of a neurophysiological assessment in cases that raise diagnostic concerns. doi:10.1016/j.jns.2013.07.176 Abstract — WCN 2013 No: 2554 Topic: 1 — Epilepsy “First seizure clinic”: The impact on patient care and adherence — A prospective study WCN 2013 No: 2554 Topic: 1 — Epilepsy “First seizure clinic”: The impact on patient care and adherence — A prospective study L. Fisch, V. Kapina, L. Heydrich, S. Haller,M.-I. Vargas, K.-O. Lovblad, A. Lascano, A.-C. Heritier, M. Seeck. Epileptology Department, Hopitaux Universitaires de Geneve, Geneva, Switzerland; Neuroradiology, Hopitaux Universitaires de Geneve, Geneva, Switzerland Background: Patients admitted after their first seizure(s) receive usually a neurological consultation, CT and often EEG before being discharged to their general practitioner (GP). However, in many cases, patients are lost to follow-up with significant consequences of further seizures. Objective: Yield of comprehensive in-house management (IHM) after a first epileptic seizure compared to “classical” management. Patients and methods: 167 patients after first presumably nonprovoked seizures were evaluated prospectively. In the interventional group (IG, N = 97), patients received initial and follow-up epileptology consultation, standard EEG, 3 T MRI, and if necessary long-term EEG. The control group (CG; N = 70) received established standard care before being referred to a private neurologist or GP. Results: In the IG, 98% had an EEG, 86% a CT-scan, and 71% an MRI. 85% were seen again for follow-up in our epileptology clinic. In the CG, these values were quite similar except that only 53% underwent MRI (p = 0.01) and 51% were seen by a neurologist for follow-up (p b 0.001). A diagnosis of epilepsy was obtained more often in the IG (50 vs 25 patients; p = 0.04) and time delay to consultation was shorter, 19 vs 50 days, respectively. Conclusion: Initial in-house management of patients with a first epileptic seizure shortens the diagnostic delay and increases the number of follow-up consultations by 34%. In parallel, it raises the number of diagnosed patients with epilepsy by 15%. 3 T-MRI provided added value in 17% of patients with normal CT-scan. Our results suggest that patients benefit significantly from comprehensive IHM. (SNF — grant SPUM 140332). doi:10.1016/j.jns.2013.07.177 Abstracts / Journal of the Neurological Sciences 333 (2013) e1–e64 e49