nop09 neurofibromatosis type 1 (nf1) and optic pathway glioma (opg). a series of 80 patients

118 Abstracts: Poster Presentations, the Seventh European Paediatric Neurology Society (EPNS) Congress

pharmacoresistant generalized seizures of various types(tonic, clonic, tonic-clonic, atonic, myoclonic). Unfavourableseizure control was associated with developmental delay.EEGs showed bilateral spike and slow-wave abnormalities.Cerebellar symptoms, paraparesis, difficulties in walk andspeech are his main deficits. No abnormalities on brain MRIscans were seen.Conclusion: Our case series confirm the heterogenecity in theclinical and neurophysiological features within the spectrumof hemimegalencephaly and KTWS.

NOP06 Ataxia-Telangiectasia: two Bulgarian siblings withthe 3576G>A founder mutation on ATM gene

P. Dimova1 *, V. Bojinova1, R. Varon-Mateeva2, K. Sperling2.1Clinic of Child Neurology, St. Naum University Hospital ofNeurology, Sofia, Bulgaria, 2Institute of Human Genetics, CharitaCampus Virchow Clinic, Berlin, Germany

We present two brothers with delayed diagnosis ofataxia-telangiectasia. Ataxia manifested at the age of 2and 4 years, respectively. Conjunctival telangiectasia andcerebellar atrophy on brain computed tomography wasobvious in both cases at the age of 6 years, whileoculomotor and swallowing disturbances, and choreoatetoticmovements developed one to two years later. Up to themanifestation of telangiectasia and due to the absenceof alpha-fetoprotein elevation and immunoglobulin deficitother cerebellar disorders of childhood were suspected.At the age of purposeful genetic investigation signs ofsensorimotor neuropathy and persistent hypoalbuminemiawere also present. DNA examination of the siblings revealeda homozygosity for the point mutation 3576G>A on exon26 of the ATM gene. This mutation leads to exon drop outand aberrant splicing. It has been found more frequently insouth and south east Europe, therefore to have a foundereffect. Described for the first time in Bulgarian patients, thismutation confirmed the diagnosis in our cases.

NOP07 Neuromuscular abnormalities in ataxiatelangiectasia; a clinical, electrophysiological andmuscle ultrasound study

M.M. Verhagen1, N. van Alfen1, M.A. Willemsen1 *, S. Pillen1,J.-B.L. Yntema1, J.A. Hiel2, H. ter Laak1, M. van Deuren1,C.M. Weemaes1. 1Radboud University Nijmegen Medical Centre,Nijmegen, The Netherlands, 2Maxima Medical Centre, Veldhoven,The Netherlands

Introduction: Ataxia telangiectasie (AT) is an autosomalrecessive multisystem disorder characterized by progressivecerebellar ataxia, oculocutaneous telangiectasia, increasedserum a-fetoprotein, variable immunodeficiency, chromoso-mal instability, and radiation hypersensitivity. The respon-sible ATM gene is involved in cell cycle control and DNArepair. With regard to the neuromuscular abnormalities, bothaxonal polyneuropathy and anterior horn cell disease havebeen described. To gain more insight in nature and evolutionof neuromuscular system involvement inATwe evaluated theclinical, electrophysiological and ultrasonographic findings in13 patients.Methods: Thirteen classical AT patients, varying in age from1 to 25 years, were studied clinically, electrophysiologically aswell as by muscle ultrasound to chart the development andspectrum of neuromuscular abnormalities in AT.Results: The most prominent finding was a progressiveaxonal sensorimotor polyneuropathy, electrophysiologicallyand in ultrasound studies manifest from the age of 8 yearsand clinically two years later. Additionally, stable slightlydecreased sensory nerve conduction velocities could befound as early as the first year of life. With routineelectrophysiological techniques the severe polyneuropathy

precludes conclusions about the presence of anterior horncell loss in older patients, but we found no post mortemevidence of such loss in a 22 year-old female patient.

NOP08 Aqueductal stenosis in the neurofibromatosis type 1(NF1): presentation of 19 infantile patients

I. Pascual-Castroviejo1 *, S.-I. Pascual-Pascual1, R. Velazquez-Fragua1, J. Viano2, F. Carceller3. 1Pediatric Neurology Service.University Hospital La Paz, Madrid, Spain, 2Imagen Unit. NuestraSra del Rosario Clinic, Madrid, Spain, 3Neurosurgery Service.University Hospital La Paz, Madrid, Spain

Objective: To present a series of infantile patients withaqueductal stenosis associated with neurofibromatosis type1 (NF1).Patients and methods: Nineteen patients with ages below16 years, 11 girls and 8 boys, with NF1 presentedhydrocephalus due to aqueductal stenosis. All patients,except one who died before the imagen study wasperformed and was diagnosed by autopsy, were studied bypneumoencephalography (since 1965 to 1974), computerizedtomography (CT) (since 1975 to 1984), magnetic resonance(MR) or MR and CT (since 1985 to 2004) (two children had beenstudied by pneumoencephalography some years before) mosttimes to discard optic pathway tumor and, in few patients,because of intracranial hypertension.Results: All patients showed threeventricular hydrocephaluswith aqueductal stenosis. Eleven patients showed opticpathway tumor. One patient had a benign aqueductal tumorthat impaired the normal flow of CSF. Neurological featuresof hydrocephalus occurred very rapidly in some patients andafter several years of evolution in others.Conclusions: Aqueductal stenosis and hydrocephalus wereidentified at a short age because many patients were studiedsuspecting optic pathway tumor. Eleven patients (about 60%)associated optic pathway tumor and aqueductal stenosis.

NOP09 Neurofibromatosis type 1 (NF1) and optic pathwayglioma (OPG). A series of 80 patients

I. Pascual-Castroviejo1 *, S.-I. Pascual-Pascual1, R. Velazquez-Fragua1, J. Viano2, J.M. Garcia-Segura2, M.P. Botella3.1University Hospital La Paz, Madrid, Spain, 2Nuestra Senoradel Rosario Clinic, Madrid, Spain, 3Hospital Txagorritxu, Vitoria,Spain

From a series of 530 patients with neurofibromatosis type1 (NF1). we performed a retrospective assessment of thelong-term neurologic, visual, neuroimaging and evolutionof a large series of 80 patients, 58 (72.5%) females and22 (27.5%) males, with optic pathway glioma (OPG) (incidence15%). All patients were diagnosed during childhood (belowage 16 years) (range 13 months to 15 years and average4.6 years). Lesion distribution among optic nerves, chiasm,tracts and radiations demonstrated that only 25% of thetumors involved only one optic nerve and 11.5% werelocated only in the chiasm, while 40% involved one orboth optic nerves and chiasm, 12.5% affected both opticnerves, chiasm and tracts, and 11% involved chiasm tractsand radiations. Tumor involvement of chiasm, tracts andradiations showed MRI of marked tumoral widespread andspectroscopic MR (SMR) signs of malignancy in some patients,although these findings did not correspond with histologicand evolutive malignant astrocytoma. Two of these patientsshowed pilocytic astrocytoma in the histological study. Latediagnosis (after 7 years of age) of OPG was made in threepatients and late progression in other three who neededsurgical resection, radiotherapy or chemotherapy.