- Email: [email protected]
3FC3.1 Clinical spectrum and treatment of epilepsy with electrical status epilepticus during slow sleep in children
Free communication sessions some psychiatric disorders and OCD-score. There were no differences in brain activation between the children with TS and healthy controls. 3FC2.5 Making sense of leukodystrophies: A “window” to brain myelination C. Marques Lourenco1 *, C. Sobreira2 , W. Marques Jr.1 . 1 Neurogenetics Unit, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Brazil, 2 Neuromuscular Unit, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Brazil Introduction: Leukodystrophies are a group of rare, heterogenous genetic diseases, which affect myelin, the major constituent of brain and spinal cord white matter; for some leukodystrophies the genetic cause is known, whereas for others the disease-causing gene has not yet been identified. Aims: Describe the clinical findings of 60 patients diagnosed with a genetic disorder of cerebral white matter and the approaches for the diagnosis. Methods/patients: All the patients were evaluated in the neurogenetics clinics by geneticists and neurologists. Clinical anamnesis, physical exam, neuroimaging studies (CT scan and brain MRI with spectroscopy), ophtalmological and auditory evaluations, neurophysiological studies (EEG, ERG, BAER and EMG/NCV), hormone and biochemical tests, muscle biopsy with respiratory chain mitochondrial analysis, screening for inborn errors of metabolism (lysosomal enzymatic studies, peroxisomal and sterol panels, cholestanol dosage, organic acids, sulfatides and aminoacids chromatography, GAGs analysis) and, when indicated, nerve/skin biopsy for EM studies, karyotype and molecular tests were performed in the course the of investigation. Results: In 42 patients was possible to establish a diagnosis for the leukodystrophy/leukoencephalopathy. X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Krabbe disease were the commonest inborn errors of metabolism (IEM) identified. It was worthy of note the fact that Vanishing White Matter (VWM) disease was a leading cause of leukodystrophies in our patients (8 patients). Conclusion: About 50% of patients with white matter abnormalities remains without diagnosis even in a reference center after an exhausting investigation, therefore a specific protocol for studying and categorizing these patients is crucial not only for an academic or scientific purpose but it is mandatory for any clinician who wants to offer for such patients the correct therapeutics when it is available. 3FC2.6 Fetal movements on MRI-is there any prognostic value? E. Bernard1 *, G. Bernert1 , C. Einspieler2 , J.I.P. de Vries3 , D. Prayer4 . 1 Preyer Children‘s Hospital Department of Paediatrics Schrankenberggasse 31, 1100 Vienna, Austria, 2 Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Graz, Austria, 3 Department of Obstetrics and Gynecology, VU University Medical Centre, Amsterdam, Netherlands, 4 Department of Radiology, Division of Neuroradiology, Vienna, Austria Background: Using fetal MRI fetal movements and distinct movement components can be observed. Aim: To describe observable movement components and pathological patterns as well as correlation with CNS findings on MRI. Method: Using dynamic MRI, 71 fetuses (17th to 36th gestational weeks) with at least 90 sec. of assessable fetal activity were included. General movements (GM) were classified as normal, abnormal (poor repertoire (PR), cramped synchronised) or absent. Breathing movements, isolated toe movements, stepping, ascending wave, mouthing, hand to head contact, hand to mouth contact, hiccup and pathologic patterns (seizures) were recorded too. Fetal movement
S29 patterns were assessed blind to morphological diagnosis and history. Results: Normal GM were observed in 37 out of 71 (52%) fetuses, 28 of them (76%) had normal MRI, whereas 9 (24%) showed brain abnormalities. PR was observed in 16 out of 71 (23%) fetuses, 9 (56%) of them had normal morphological findings, 7 (44%) demonstrated pathologies. In 18 out of 71 (25%) fetuses no movements were observed, 12 (67%) had normal cerebral MRI, in 6 (33%) abnormal findings were documented. In 53 out of 71 fetuses other movement components were identified: hand to head contact in 38 (72%), mouthing in 31 (58%), hand to mouth contact in 14 (26%), isolated toe movements in 14 (26%), ascending wave in 8 (15%), stepping in 5 (9%), hiccup in 5 (9%), breathing movements in 4 (7%) fetuses. Pathologic patterns were not observed. Conclusion: Normal and abnormal GM, as well as specific movement components can be identified using prenatal MRI. However, as no quantification is possible, results have to be interpreted with caution. Especially the absence of normal GM cannot be interpreted as a pathological sign especially if not associated with morphological pathology.
3FC3. Epilepsy (II) 3FC3.1 Clinical spectrum and treatment of epilepsy with electrical status epilepticus during slow sleep in children E. Arhan1 *, A. Serdaroglu ˘ 1 , N. Kurt1 , S. Soysal1 . 1 Gazi University Faculty of Medicine, Turkey Background and Aim: Epileptic encephalopathy with status epilepticus in sleep (ESES) is defined as an age-related, selflimited disorder characterized as epilepsy with different seizure types, neuropsychological impairment in the form of global or selective regression of cognitive functions, motor impairment, and typical EEG findings of continuous epileptic activity occupying 85% of non-rapid eye movement (REM) sleep. There are several unresolved questions regarding the preferred treatment modalities. This retrospective study aims to expand our knowledge in the treatment of ESES. Material and Method: The subjects of this study were 20 patients (10 males and 10 females) suffering from ESES syndrome with a spike-wave index during slow-wave sleep of at least 60%, and they were admitted to the Gazi University Hospital from 2000 to 2009. Results: The mean age of the onset of seizure is 2.96±2.88 years, the mean age of onset of ESES is 6.8 ± 2.46 years. The duration of ESES ranged between 2 and 96 months. These subjects included 6 patients with Lennox-Gastaut syndrome, 1 with ABPE, and 2 with LKS. The antiepileptic drugs that were found to be efficacious were: levetiracetam (44%), pulse methyl prednisolone (75%), and clobazam (25%). There was a significant correlation between the duration of ESES and residual intellectual deficit at follow-up. Conclusion: The most efficacious antiepileptic drugs are levetiracetam and clobazam. The duration of ESES correlated significantly with residual intellectual deficit at follow-up. 3FC3.2 Mortality and causes of death in children referred to a tertiary epilepsy Center P. Uldall1 *. 1 Rigshospitalet Neuroped and Dianalund Epilepsy Center, Denmark Purpose: To describe causes of death in children with difficult to treat epilepsy. Methode: 3030 children aged 1 month to 18 years were referred to admission or outpatient visit to Dianalund
S29 patterns were assessed blind to morphological diagnosis and history. Results: Normal GM were observed in 37 out of 71 (52%) fetuses, 28 of them (76%) had normal MRI, whereas 9 (24%) showed brain abnormalities. PR was observed in 16 out of 71 (23%) fetuses, 9 (56%) of them had normal morphological findings, 7 (44%) demonstrated pathologies. In 18 out of 71 (25%) fetuses no movements were observed, 12 (67%) had normal cerebral MRI, in 6 (33%) abnormal findings were documented. In 53 out of 71 fetuses other movement components were identified: hand to head contact in 38 (72%), mouthing in 31 (58%), hand to mouth contact in 14 (26%), isolated toe movements in 14 (26%), ascending wave in 8 (15%), stepping in 5 (9%), hiccup in 5 (9%), breathing movements in 4 (7%) fetuses. Pathologic patterns were not observed. Conclusion: Normal and abnormal GM, as well as specific movement components can be identified using prenatal MRI. However, as no quantification is possible, results have to be interpreted with caution. Especially the absence of normal GM cannot be interpreted as a pathological sign especially if not associated with morphological pathology.
3FC3. Epilepsy (II) 3FC3.1 Clinical spectrum and treatment of epilepsy with electrical status epilepticus during slow sleep in children E. Arhan1 *, A. Serdaroglu ˘ 1 , N. Kurt1 , S. Soysal1 . 1 Gazi University Faculty of Medicine, Turkey Background and Aim: Epileptic encephalopathy with status epilepticus in sleep (ESES) is defined as an age-related, selflimited disorder characterized as epilepsy with different seizure types, neuropsychological impairment in the form of global or selective regression of cognitive functions, motor impairment, and typical EEG findings of continuous epileptic activity occupying 85% of non-rapid eye movement (REM) sleep. There are several unresolved questions regarding the preferred treatment modalities. This retrospective study aims to expand our knowledge in the treatment of ESES. Material and Method: The subjects of this study were 20 patients (10 males and 10 females) suffering from ESES syndrome with a spike-wave index during slow-wave sleep of at least 60%, and they were admitted to the Gazi University Hospital from 2000 to 2009. Results: The mean age of the onset of seizure is 2.96±2.88 years, the mean age of onset of ESES is 6.8 ± 2.46 years. The duration of ESES ranged between 2 and 96 months. These subjects included 6 patients with Lennox-Gastaut syndrome, 1 with ABPE, and 2 with LKS. The antiepileptic drugs that were found to be efficacious were: levetiracetam (44%), pulse methyl prednisolone (75%), and clobazam (25%). There was a significant correlation between the duration of ESES and residual intellectual deficit at follow-up. Conclusion: The most efficacious antiepileptic drugs are levetiracetam and clobazam. The duration of ESES correlated significantly with residual intellectual deficit at follow-up. 3FC3.2 Mortality and causes of death in children referred to a tertiary epilepsy Center P. Uldall1 *. 1 Rigshospitalet Neuroped and Dianalund Epilepsy Center, Denmark Purpose: To describe causes of death in children with difficult to treat epilepsy. Methode: 3030 children aged 1 month to 18 years were referred to admission or outpatient visit to Dianalund