S22 17th May 2008 (Saturday), Oral presentations 10.00−11.30

stimulation) and electromyography, (EMG; incl. single fibreEMG). Both NCS and EMG have the advantage of gradingfindings into mild, moderate and severe abnormalities. Inaddition, this grading can be used in follow-up to find outwhether, for example a nerve lesion, myositis or myasthenia,has improved.To perform neurophysiological investigations in childrenimply certain conditions one or two parents are present,the child may be scared or unwilling to undergo anexamination, special electrodes are necessary in youngerchildren, normative data for children are necessary, and theinvestigation must be performed by a skilled investigator.The communication includes presentation of neurophysi-ologial investigations in various neuromuscular disorders inchildren.

INV50 PET imaging in epilepsy syndromes

H.T. Chugani. Division of Pediatric Neurology, PET Center,Children’s Hospital of Michigan, Detroit, Michigan, USA

When focal epilepsies in children are medically-refractory,epileptic encephalopathy should be avoided by aggressivemanagement, including epilepsy surgery. Surgical results arebest when there is concordance between EEG localizationand neuroimaging. When MRI is normal, PET abnormalitiesguide placement of intracranial electrodes, thus minimizingsampling errors. In refractory cryptogenic infantile spasms,PET scanning of glucose metabolism is useful. Surgicalresection of focal PET abnormalities corresponding to focalEEG abnormalities is associated with improved seizure/cognitive outcome. Unfortunately, only about 20% of thesepatients show a single PET focus amenable to resection.The majority shows multifocal hypometabolism and arenot optimal surgical candidates. Bilateral symmetric hy-pometabolism suggests a nonlesional etiology, consistentwith neurogenetic/neurometabolic disorders. The seizuresin hemimegalencephaly are typically difficult to controland hemispherectomy may be inevitable. The contralateralhemisphere may appear normal or show milder degreesof malformation on MRI or PET and its integrity providesprognostic information. Children with Landau Kleffner syn-drome typically show bilateral temporal lobe abnormalitieson PET, but some children with electrical status epilepticusduring slow-wave sleep show large areas of unilateral glucosehypometabolism and are potential surgical candidates.Other PET tracers provide more specific assessment ofseizure foci. PET with PK11195 detects areas of cerebralinflammation associated with seizures (e.g., Rasmussen’sencephalitis). [C-11]flumazenil (FMZ) labels central benzo-diazepine receptors, showing: decreased receptor bindingin medial temporal sclerosis, perilesional epileptogeniczones, seizure onset zones, and secondary epileptic foci.Alpha-methyl-L-tryptophan (AMT) traces serotonin synthesisand kynurenine pathways and shows increased uptake inepileptogenic cortex interictally. In children with tuberoussclerosis, increased AMT uptake is seen around epileptogenictubers. The list of PET tracers for epilepsy continues to growand will further contribute to the study of pediatric epilepsysyndromes from a medical and surgical perspective.

INV51 New developments in digital EEG

T. Bast. University Children’s Hospital, Heidelberg, Germany

Digitally acquired surface EEG allows for manifold off-lineanalyses and full potential of this non-invasive method isstill not tapped.Digital filtering, adjustment of amplification and timeresolution and reformation in variable montages are methodsof clinical routine. Sequential mapping of electric potentialsprovides useful information regarding probable localization

of activated cortical areas and identification of propagationphenomena. Interictal spikes and seizure patterns may bedetected automatically with some limits. However, digitalEEG can easily be scanned for already identified patternsin order to quantify or even average activities of interest.Spectral array analysis (DSA, CSA) allows very fast reviewof long EEG segments regarding conspicuous changes infrequency spectra over time indicating potential seizureactivity. Identified rhythmic patterns can be analyzed by fast-Fourier transformation (FFT) and amplitude/power spectracan be displayed. FFT-phase maps help to differentiateand localize variable sources of rhythmic patterns. Inversesource analysis with superposition on individual 3D-MRIcan be readily applied to identify the center of activationof cortical areas generating interictal and/or ictal epilepticactivities. Individual head models may help to minimizethe forward problem, although there is lack of data onvolume conductivities of the different tissues, especiallyin young children. Advantages and pitfalls differ betweensingle dipole models, multiple source analysis and variousdistributed source models. However, none of the inversesolutions is confident and extent of the activated cortical arearemains unclear. In addition to the analysis of activities ofthe common frequency range from 0.1 to 80Hz, there is anincreasing interest in very low (DC) and very high (gamma)oscillations in (invasive) digital EEG.

10.00−11.30Varia

INV52 Neurological consequences of intrauterine TORCHinfections

D. Dunin-Wasowicz. The Children’s Memorial Health Institute,Warsaw, Poland

Intrauterine infections are one of the leading factors infetal brain damage. Cytomegalovirus infection is the mostfrequent congenital viral infection, however only 10−15%of infants are symptomatic at birth. Brain malformations,calcifications or meningoencephalitis result in drug resistantepilepsy, cerebral palsy or mental retardation. Despite of therubella vaccination, congenital rubella may occur, also withneurological consequences. Herpes simplex infection is verydangerous for newborn’s life and their further psychomotordevelopment. Hydrocephalus caused by congenital toxoplas-mosis often required shunts; calcifications are present notonly in brain, but also in the spinal cord. Lately, HIV infectionsand congenital syphilis are not rare, and the inflammationprocess in the central nervous system results in its severedamage.Some new diagnostic techniques (e.g. PCR method or MRI),and therapeutic procedures, including antiviral drugs, areuseful tools for early diagnosis and treatment TORCH infec-tions. Multispecialistic care may also decrease neurologicaldisabilities in children.

INV53 Measles and SSPE in the last 18 years in Romania

D. Craiu1, P. Avram2, M. Craiu2, A.-V. Cochino2, I. Minciu1,O. Tarta-Arsene1, N. Butoianu1, C. Burloiu1, C. Iliescu1,S. Magureanu1. 1Pediatric Neurology Clinic, Alexandru ObregiaHospital, National Reference Epilepsy Center, Bucharest, Romania,2Institute for Mother and Child Care, Bucharest, Romania

Aim: to describe diagnostic and evolutive aspects of SSPEpatients and correlate these findings with epidemiology ofmeasles infection in Romania.Methods: Retrospective case-series analysis of documentedSSPE admitted between January 1990 and December 2007.

17th May 2008 (Saturday), Oral presentations 10.00−11.30 S23

Results: 95 consecutive cases; age distribution: 5 preschool-ers, 90 older children (extremes 84 204mo). 85 patients hadmeasles history, 40% before age 2 years. 10 children developedSSPE after vaccination. 17 patients presented seizures, 9 asfirst sign, 8 later. Focal seizures predominated at onset,while generalized seizures in evolution (11 patients outof 17), mainly in stage II (15 patients) or III (2 patients).Resistance to AEDs (3 cases) was followed by poor prognosis(exitus in 2−5mo after onset). Only 11 patients had rapidevolutive dementia and refractory epilepsy. 91 patients hadCSF analysis for measles antibodies, titers 1/200 1/1280.Outcome was poor with 5 long-term survivors >5 years.Most patients were Jabbour stage IIa, both at onset anddiagnosis, probably due to sampling bias. Treatment outcomewas modest. 57 with isoprinosine alone and 38 isoprinosineand ACTH; 10 patients IVIG.Conclusions: 1. Many SSPE patients had measles before2 years of age. 2. Isoprinosine treatment produced temporarybenefit in 18% cases. 3. Cases clustering was 4−6 yearsafter outbreaks. 4. High percentage of SSPE in vaccinatedcases (10.52%). Vaccine used was attenuated Schwarz stainvaccine. 5. Last epidemic outbreak was registered in 2005:5335 oficially reportedmeasles cases. Awareness of Romanianphysicians should increase, as we expect an increase ofSSPE new cases in the next 2 years. Early signs (cognitiveand behavioral disorders) should be evaluated with a highindex of suspicion in these years. 6. Since 2006, HealthMinistry changed policy for measles vaccination: in Romaniais used MMR vaccination. Further research should be done toevaluate the impact of this change.

OP13 Prevalence of epilepsy in preschool children inCroatia: evaluation of associated handicap, social andmedical care

L. Cvitanovic-Sojat1, A. Sruk2, I. Bielen2. 1Department ofPaediatrics, University Hospital ‘Sestre milosrdnice’, Zagreb,Croatia, 2Department of Neurology, General Hospital ‘Sveti Duh’,Zagreb, Croatia

Purpose: Investigate the prevalence of active epilepsy inchildren 0 to 7 years, evaluate qualitative and quantitativeassociated handicap and determine basic social and medicalcare procedures.Methods: Data were collected during May and June 2005,questionnaires were completed by primary health carepaediatricians from all regions of Croatia. The diagnosis ofepilepsy was verified by neuropaediatricians.Results: The total sample was 34,467 (16.3% children 0 to 7years in Croatia) and between them 119 had active epilepsy.Prevalence rates was 3.5/1000. Some type of handicap isfound in 58% of children: disorders of motor ability (46.6%),speech (42.2%) and behaviour (40%), sight (14.7%) andhearing (9.5%). Normal intellectual status is found in 61.5% ofchildren, the others had some degree of mental retardation:mild (11.1%), moderate (10.3%) and severe (17.1%). Most ofthe children live with their families (95.8%), only smaller partis permanently situated in institutions (4.2%). The rate ofkindergarten members, if children with mental retardationare excluded, rises at 27.5%, which is not significantlydifferent from the rate for general population of 29.7%.Monotherapy was prescribed in 75.4% of children, andvalproats were the most commonly prescribed antiepilepticdrugs. Polytherapy is more often used in subgroup of childrenwith mental retardation compared with group with noretardation (36.4% vs. 17.1%; p<0.05).Conclusion: Prevalence of epilepsy in preschool children withepilepsy in Croatia is comparable with results from studiesin other countries, the same is with handicap. Children withmental retardation are more often treated with polytherapy,which probably correlates with the severity of epilepsy. We

have found no elements that would indicate discriminationof children with epilepsy in acceptance to kindergartens.

OP14 Treatment of congenital myasthenic syndromes

V. Milic Rasic1, S. Todorovic1, J. Mueller2, H. Lochmueller2.1Clinic for Child Neurology and Psychiatry, University of Belgrade,Belgrade, Serbia, 2Institute of Human Genetics, University ofNewcastle upon Tyne, Newcastle upon Tyne, UK

Background and Purpose: Congenital myasthenic syndromes(CMS) are group of clinically and genetically heterogeneousdisorders. Patients usually present with muscle weaknessplus abnormal fatigability, sometimes with respiratorydifficulties. Treatment is not identical for all CMS types. Wepresent here our experience in therapy of different CMSgenotypes.Methods: 17 patients (F: 7; M: 10) from 10 families were diag-nosed as CMS according to Neuromuscular Center criteria atClinic for Child Neurology and Psychiatry, Belgrade. Geneticstudies were done in Friedrich-Baur-Institute, Munich. Thefollow up period was from 2 to more than 10 years.Results: The most of our patients presented postsynapticmutations (16): identical (e1267delG) mutation in CHRNE genein 11 patients, mutation (N88K and R164C) in RAPSN gene in3 patients and mutation of b subunit of the AChR in CHRNB1gene leading to slow channel-CMS type in 2 patients. Synapticmutation in COLQ gene was detected in 1 patient only. Therewere no presynaptic mutations. Patients with e1267delG andRAPSN mutations reacted very well on anticholinesterasedrugs. One boy with RAPSN mutation lost good effect ofMestinon after five years of successfully therapy. SC-CMSpatient was treated with mestinon with minimal or withouteffect until the fluoxetine was introduced. One patient withCOLQ mutation expressed worsening of his CMS symptomsafter administration of AChE inhibitors.Conclusion:Treatment of CMS depends of diverse genetic de-fects reflecting underlying pathophysiological mechanisms.

OP15 Myotonic syndromes: one genedifferent phenotypes

B. Ryniewicz, A. Kostera-Pruszczyk, H. Kwiecinski. Departmentof Neurology, Medical University, Warsaw, Poland

Mutations in gene SCN4A coding for voltage gated sodiumchannel cause different allelic diseases: paramyotoniacongenital (PC), hyperkalemic periodic paralysis (hyper PP),10% of hypokalemic periodic paralysis (hypo PP) andpotasium-aggravated myotonia (PAM). These diseases arecharacterized by stiffness and/or episodic weakness. They donot always appear in their pure forms intermediate formsare frequent.The purpose of the study is to present different phenotypesin patients with SCN4A mutations. Material. We present onefamily with mother and two sons suffering from episodicweakness and paradoxical myotonia and a girl observed by16 years with marked permanent myotonia.Methods: The patients were studied clinically, electrophysio-logically (EMG, excercise and cooling tests). Identification ofmutation was also done.Results: In a girl with permanent myotonia we stated on EMGmarked myotonic and pseudomyotonic discharges, excerciseand cooling test was typical for sodium channelopathy.We used carbamazepine for many years with very goodresults. The new mutation in SCN4A L698F was found.In a family with three affected members paralysis periodicaparamyotonica was diagnosed, with presence of myotoniain EMG, clinically with paradoxical myotonia and frequentepisodes of weakness. The mutation I 693T in SCN4A genehas been identified (genetic laboratory Ulm, dr. KarinJurkat-Rott).