P06.2 Serum S100B is not a serum marker of neuronal damage in subacute sclerosing panencephalitis

S54 P05.17 Clinical course features of metachromatic leukodystrophy late infantile form in twins N. Kuzmina1 *, Z. Rafikova1,2 . 1Tashkent city Medical Pediatric Diagnostic Centre, Taskent, Uzbekistan, 2 Institute of Posgradual Medical Education, Taskent, Uzbekistan Background: Inherited progressive degenerations of white matter present scientific and practical interest due to rare occurrence and difficulties of diagnosis in early stage. Aim of the study: To show results of clinicogenetic trial and catamnesis of twin sisters with metachromatic leukodystrophy (MLD) late infantile form. Methods: Marriage of parents was kinship in the second generation. Twins were born premature with gestational age 34 weeks, with low Apgar score and arterial ischemic strokes. Second child N. had additionally stenosis of pulmonary artery. From the age of 6−8 months twins became anxious, excitable, appeared distonic attacks, increased muscle tone, refusal to eat and vomiting. Loss of motor developmental milestones, cognitive functions, optic atrophy was very rapid. MRI revealed sparing of subcortical U fibers, simmetrical confluent areas of hifh signal intensity in the periventical white matter. Urine sulfatide levels were 6.5 nmol sulfatide/mg creatinine, Arylsulfatase A enzyme activity was 2.3 nmoles/mg/hr. DNA mutation analysis showed genotype D381E/A469G in both twins. The course of the disease was remittent − exacerbation of metabolic crisises with vomiting, seizures and remission after hormonal treatment. Fatal outcome had both twins in age of 3.5 years. Results and Conclusions: Expressivity of the disease in twins links with antenatal factors, methods of prenatal testing should be perform in families with high risk of MLD, investigation of sulfatides helps to differentiate MLD early infantile form with globoid cell leukodystrophy. P05.18 Neuronal Ceroid-Lipofuscinoses, Late Infantile CLN2, clinical case N. Smulska1 *. 1 Neurology Department, Hospital no. 1, Kiev, Ukraine The neuronal ceroid lipofuscinoses, also known as Batten disease, are a group of neurodegenerative disorders. CLNs are one of the most common degenerative conditions in childhood. In our department we have been the male patient. He is 5-years-old now. He was born at term and had normal development. First time he came in our department when he was 3-years-old after febrile seizures. Since 6 months he had two afebrile generalized seizures. His EEG showed multifocal spikes and slow background rhythm. He had taken VPA. At the age 3 years and 9 months began myoclonic seizures and atypical absences. The seizures were very often. He took different combination of antiepileptic drugs: VPA, topiramate, clonazepam. Patient has had rapid arrest of development: he followed by dementia, ataxia, loss motor skills and spastic. At 4-years-old he had acute pancreatic problems (probably after error in meal − every day along one week parents gave him big portion red caviar). Visual failure became at the 3.5years-old and he has had macular and retinal degeneration and optic atrophy at 5-years-old. Now he use levetiracetam and seizures are not often. EEG − multifocal spikes, a peculiar response to photic stimulation. MRI − first investigation was normal, second − since one year − is demonstrates brain atrophy. ECG − is normal. Genetics investigations − low level the lysosomal enzyme Tripeptyl Peptidase 1-31 (normal 170 340), partial mutation in TPP1/CLN2 gene Arg208Stop. The patient has neurodegenerative disorder − Late Infantile Ceroid-Lipofuscinoses. He has a bad prognosis for life, his state regressive along short time.

Poster sessions P06. Neuroimmunology: Autoimmune encephalitis P06.1 Long-term outcome and autoantibody search in children with acute cerebellitis E.-M. Hennes1 *, K. Rostasy1 , A. Vincent2 . 1 Medical University Innsbruck, Austria, 2 University of Oxford, Weatherall Institute of Molecular Medicine, United Kingdom Aim of the study: Acute cerebellitis (AC) is a rare disease that presents with cerebellar ataxia and other neurological symptoms such as dysarthria. It is mostly thought to be post-infectious and with a favourable outcome. Various infectious agents, such as Varicella zoster, have been detected in children with cerebellitis, but the pathomechanisms in these or in non-infectious cases are not known. Our work concentrates on the sequelae of AC and on potential autoimmune agents. Methods: 15 children with AC and consequent MRI changes (M:F= 7:7, age range 1y-14y; duration of follow-up 1y to 11y) were studied. Physical abilities were assessed by standardized neurological examination or telephone-based EDSS interview. Cognitive abilities were assessed using the questionnaire “Kognitive Probleme bei Kindern und Jugendlichen”. Serum samples from 5 children were screened for various antibodies by routine autoantibody assays, to cerebellar neurons in culture and to cerebellar sections. Results: 5 out of 12 patients have on-going neurological problems (intention tremor, ataxia, dysarthria or problems in fine and gross motor skills). 5/11 patients still have neuropsychological problems concerning concentration, learning or memory. In none of the sera autoantibodies against voltagegated potassium/calcium channels, NMDA/AMPA-receptors, glutamic acid decarboxylase or to glycin receptor have been detected. Staining of cerebellar neurons and cerebellar sections showed no binding of serum IgG. Conclusion: The outcome of children with AC in our cohort was not as favorable as expected. Because children without a post-infectious etiology such as varicella seem to have a worse outcome, it would be helpful to identify possible mechanisms and to direct the therapies accordingly. Autoantibodies are known to be involved in patients with adult AC. We found no evidence of autoantibodies to cerebellar structures in our patients. Further studies with serum samples from a larger cohort of children taken at the peak of disease are needed. P06.2 Serum S100B is not a serum marker of neuronal damage in subacute sclerosing panencephalitis 1 2 3 I˙. Hocanlı1 , M. Calık ¸ , A. Cakmak ¸ , H. Celik ¸ , A. Kocyi ¸ git ˘ 3, A. I˙s¸ can1 *. 1 Department of Pediatric Neurology, Harran University, ¨ Turkey, Turkey, 2 Department of Pediatrics, Harran University, 3 Department of Biochemistry and Clinical Biochemistry, Harran University, Turkey

Background: S100B, established as prevalent protein of the central nervous system, is a peripheral biomarker for bloodbrain barrier disruption and neuronal damage and it’s extracranial sources do not affect serum levels. Objectives: To investigate the occurrence of neurologic damage in patients with subacute sclerosing panencephalitis employing serum biochemical marker, S100B. Design and Methods: Fourty patients with SSPE and 40 controls with no clinical evidence of neurological disease were recruited. Serum S100B protein were determined by employing ECLIA (Electrokemiluminesans immunoassay) kits from Roche diagnostics (Germany). Results: No statistically significant difference was found between SSPE group and control group in terms of S100B. Also, no statistically significant difference was found between

Poster sessions SSPE subgroup with brain atrophy and the subgroup without brain atrophy. Conclusion: S100B is not a serum marker of neuronal damage in SSPE. P06.3 Juvenile myasthenia gravis associated with autoimmune channelopathy and mixed connective tissue disease B. Bunoza1 *, N. Bariˇsic´ 1 , I. Lehman1 , A. Vincent2 , S. Galic´ 1 , M. Novak1 , J. Slavicek ˇ 1 , Z. Puretic´ 1 . 1 University Hospital Centre Zagreb, Croatia, 2 John Radcliffe Hospital Oxford, United Kingdom Background: Ion channels are crucial elements in neuronal signaling and synaptic transmission. Autoantibodies against voltage-gated ion channels couse disorder in peripheral neuromuscular transmission. Autoantibodies against voltagegated potassium channels (VGKC-Abs) are associated with acquired neuromyotonia and related disorders such as Morvan’s syndrome and limbic encephalitis. The symptoms of myasthenia gravis (MG) reflect the disfunction of neuromuscular transmission. Case report: We present a girl at age of 15 years with ptosis, proxymal muscle weakness, neuromyotonia hyperhidrosis, short memory loss and confusion. Anti-AChR antibodie were found. Electromyography showed neuromyotonic discharges. Cerebrospinal fluid analysis revealed oligoclonal bands. The plasma VGKC-Abs titer was elevated (176 pM, controls 100 pM), positive antiganglioside abs (GM1, asialo GM1, GM2, GD1a,b) and SS-A 211 U/ml, SS-B 157, U1-RNP 188 U/m, DNAtopo 128 U/ml (control >120). Brain MRI was normal. The girl was treated with pyridostigmine, steroids, intravenous immunoglobulins and azantioprine and repetitive plasma exchanges. Neurological impairment and myasthenic crisis occured in periods of 5−21 days. Conclusion: The neuromyotonia and some of the dysautonomic features are likely to be directly related to the VGKC abs on peripheral nervous system. The central nervous sistem symptoms are very likely due to the direct effects of VGKC abs, although there can be some other autoantibodies. A severe clinical course might be related to myasthenia gravis associated with autoimmune disease of central and peripheral nervous system overlapping probably with mixed connective tissue disease. P06.4 Isolated psychiatric symptoms in anti-NMDA receptor encephalitis S. Lebon1 *, C. Mayor-Dubois1 , I. Popea2 , C. Poloni1 , N. Selvadoray3 , A. Gumy3 , E. Roulet-Perez1 . 1 Unit´e de neurop´ediatrie et neuror´ehabilitation p´ediatrique, D´epartement M´edico-Chirurgical de P´ediatrie, CHUV, Lausanne, Switzerland, 2 Unit´e Multidisciplinaire de Sant´e des Adolescents, CHUV, Lausanne, Switzerland, 3 Service Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, CHUV, Lausanne, Switzerland Background: Anti-N-Methyl-D-Aspartate Receptor antibodies (anti-NMDAR) encephalitis is a recently described condition, initially reported in young women with ovarian teratoma, with a severe characteristic clinical course including behavioural changes, cognitive deterioration, sleep and autonomic disturbances, abnormal movements and epileptic seizures. This disease can also affect children, most often without any associated cancer. Aim: We report the case of one adolescent, aged 16 year, with sudden onset of behavioural changes characterized by excessive sadness, mutism and massive lack of initiative. She initially exhibited hypersomnia, then psychotic features with elementary auditory hallucinations, 3 months later. Her neurological examination was entirely normal. She had normal brain MRI, normal CSF (except oligoclonal bands), slow background rhythm on EEG and positive anti-NMDAR antibodies in serum.

S55 Methods: We reviewed the case retrospectively. Results: Because of the atypical presentation, anti-NMDA receptor antibodies (without an ovarian teratoma detected so far) were found five months after the beginning of the symptoms. She showed memory and executive deficits 9 months after disease onset and is currently treated. Conclusion: To our knowledge, isolated psychiatric symptoms have never been reported in anti-NMDAR encephalitis. This case illustrates a milder and less recognizable form of the disease and widens the clinical spectrum of this entity. The clinicians should be aware about it in case of psychiatric symptoms with sudden onset. The abnormal EEG constitutes a good cue for diagnosis. P06.5 Diagnosis of paraneoplastic opsoclonus-myoclonus syndrome in children R. Cedenkayevna Bembeeva1 , E. Ilyina1 , N. Nikolayevich Zavadenko1 *, E. Stepanovna Ilyina2 . 1 Russian State Medical University, Russian Federation, 2 Russian Children’s Clinical Hospital, Russian Federation Background: Opsoclonus-myoclonus syndrome (OMS) is a rare movement disorder with characteristic clinical picture of cerebellar ataxia, tremor, dysarthria, ocular dyskinesia and behavioral problems (iiritability, agressivity). It is believed that approximately 50% of OMS cases are associated with neuroblastoma (Fernandez-Alvares and Aicardi, 2001). Since 1997 we have observed 44 patients with OMS, 23 males and 21 females. Average age of onset was 20 months (6−47 months). The detailed study was performed in 22 patients (13 males, 9 females). Aim of the study was to establish an algorithm for brain tumor‘s diagnosis in patients with OMS. Methods: We have used ultrasound of abdomen and pelvis; thorax X-ray; CT of the thorax, abdomen and pelvis; MRI of abdomen and pelvis; scintigraphy with MIBG; 24-hour urine screen for catecholamines; neuron-specific enolase assay. Results: OMS paraneoplastic etiology was determined in 10 of those 22 cases. Tumors were located in the thorax (3 cases), pelvis (2) and retroperitoneally (5). 8 patients underwent tumor resections. The following diagnoses were established after the biopsy: neuroblastoma (2 cases), ganglioneuroma (3), ganglioneuroblastoma (3). The duration of period between the onset of OMS and diagnosis of tumors varied from 1 to 39 months (10 months in average). 12 of 22 patients were under the follow-up for a period from 6 months to 3 years. No tumors developed in them for this time, so they were suspected to have parainfectious form of the OMS. Conclusions: In our study of OMS patients CT and MRI with or without ultrasound proved to be the most informative in detecting neural crest-derived tumors. It is obligatory to continue the search of tumors for a long time (up to 3.5 years) after the onset of OMS. P06.6 The immunologic aspects of the patients with infantile spasm 1 1 ¨ *, B. Gokda g˘ 1 , A. Guven , A. Metin1 , G. Kose E. Ozaydın ¨ ¨ 1. ¨ 1 Children’s Health and Diseases Hematology-Oncology Hospital, Ankara, Turkey

Background: To understand the effect of immun mechanisms on the pathophysiology of infantile spasms will make possible to use the immunomodulator treatments more frequently in the future. Aim of the study: To asses the T and B cell functions in infantile spasms and to determine the immunologic dysfunction in the ethiopathogenesis. Method: 25 infants (17 male, 8 female) diagnosed as infantile spasm were participated in the study. 20 healthy infants (11 male, 9 female) and 20 infants with afebril convulsions (13