DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 01 · Volume 48 · April 2017 DOI: 10.1055/s-007-33900


Abstracts of the 43rd Annual Meeting of the Society for Neuropediatrics
Bad Nauheim, 27. to 30.04.2017

Chair: Prof. Dr. Bernd A. Neubauer, MD, Department of Pediatric Neurology, University Hospital Giessen, Giessen, Germany

  • PP01
  • PP02
    Schuler, E.; Rating, D.; Perez-Duenas, B.; Ortigoza-Escobar, J. D.; Haas, D.; Hoffmann, G. F.; Assmann, B.:

    Successfully Completed Pregnancy in a Patient with SLC25A19-Associated Form of a Treatable Leigh-Like Syndrome

  • PP03
    Wiegand, G.; Polster, T.; Hertzberg, C.; Wiemer-Kruel, A.; French, J.; Fan, P.; de Vries, P.; Berkowitz, N.; Vaury, A.; Peyrard, S.; Curatolo, P.:

    Predictors of Efficacy in Patients with Adjunctive Everolimus Therapy for Treatment-Resistant Seizures Associated with Tuberous Sclerosis Complex

  • PP04
    Demirbas, S.; Stettner, G. M.; Steindl, K.; Joset, P.; Scheer, I.; Plecko, B.:

    Early Radiologic Pattern in a Patient with Megaloencephalic Leukoencephalopathy Due to Homozygous MLC1 Mutation

  • PP05
    Kirschenhofer, S.; Haubenberger, D.; Freilinger, M.:

    Validation of Digital Spiral Analysis in Pediatric Tremor

  • PP06
  • PP07
    Johannsen, J.; Heinemeyer, J.; Hempel, M.; Lessel, D.; Mueller-Stoever, S.; Strom, T. M.; Matschke, J.; Denecke, J.:

    A Novel Nonsense Mutation in TRIP4 Gene Causes Severe Muscular Weakness with Respiratory Failure and Cardiomyopathy but without Skin, Joint, and/or Bone Abnormalities

  • PP08
  • PP09
    Wille, D.; Stettner, G. M.; Häberle, J.; Ballhausen, D.; Plecko, B.:

    Clinical Presentation and Molecular Findings in Two Index Patients with GM2 Gangliosidosis/Mb. Sandhoff

  • PP10
    Klotz, K. A.; Reinacher, P.; Schulze-Bonhage, A.; Korinthenberg, R.; Jacobs, J.:

    West Syndrome in Hypothalamic Hamartoma: A Rare Clinical Presentation

  • PP11
  • PP12
    Coci, E. G.; Codutti, L.; Fink, C.; Bartsch, S.; Gruning, G.; Lücke, T.; Kurth, I.; Riedel, J.:

    Novel Homozygous Missense Mutation in ALDH7A1 Causes Neonatal Pyridoxine-Dependent Epilepsy

  • PP13
  • PP14
  • PP15
  • PP16
    Weisner, Th.; Thyen, U.; Spiegler, J.; Härtel, Ch.; Wandinger, K.:

    A Five-Year-Old Boy Diagnosed with an Anti-mGluR1 Positive Post–Streptococcal-Associated Cerebellitis

  • PP17
    Lechner, Ch.; Rostàsy, K.; Baumann, M.; Hennes, E. M.; Schanda, K.; Kössler, M.; Zellner, H.; Egger, S.; Baumgartner, S.; Zeiner, F.; Heinz-Erian, E.; Albrecht, U.; Reindl, M.:

    Neuromyelitis Optica Spectrum Disorders in Pediatric Patients

  • PP18
  • PP19
  • PP20
    Zeile, I.; Stampfer, M.; Schara, U.; Redler, S.; Mayatepek, E.; Haack, T. B.; Distelmaier, F.:

    Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency

  • PP21
  • PP22
    Bluschke, A.; Beste, C.; von der Hagen, M.:

    Cognition in Neurofibromatosis Type 1: What We Know and What We Do Not

  • PP23
    Kersting, M.; Tempes, J.; Falkenstein, M.; Buyken, A.; Lücke, T.:

    Lunch and Cognitive Performance in School Children: The Crossover Intervention Trial CogniDo

  • PP24
  • PP25
  • PP26
    Bohnenpoll, J.; Eichler, F. S.; Schoen, G.; Hischke, S.; Denecke, J.; Hempel, M.; Kohlschütter, A.; Bley, A.:

    The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature

  • PP27
    Korenke, C.; Piegsa, E.; Blüthner, M.; Korinthenberg, R.; Wagner, M.:

    Muscle Dystrophy Differential Diagnosis: Manifestation of Anti-HMG-CoA Reductase Antibody Myositis in Infancy

  • PP28
    Schmitz, N.; Lüsebrink, N.; Schubert-Bast, S.; Porto, L.; Freiman, T.; Kieslich, M.:

    Posttraumatic Encephalocele as a Rare but Relevant Complication of Frontobasal Fractures

  • PP29
    Bak-Göcke, U.; Reutlinger, C.; Gbadamosi, J.:

    Guillain-Barré syndrome: Two Cases with Serious and Atypical Process

  • PP30
    Uray, W.; Bode, H.; Ahting, U.; Schmitz, B.; Gaspar, H.:

    Leigh Syndrome Caused by a Novel Gene Variant in NDUFS8