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
Abstracts (HTML) List of Authors
PP01
Schröder, S.; Spiegler, J.: Case Report: Everolimus in a 10-Week-Old Patient with Tuberous Sclerosis and Refractory Epilepsy
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
Gebhardt, B.; Schöne, S.: Renal Stones under Antiepileptic Treatment: Pathogenesis and Therapy
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
Hartmann, H.; Prüfe, J.; Illsinger, S.; Das, A. M.; Lücke, T.; Grigull, L.: Long-Term Neurodevelopmental Outcome of Patients with Mucopolysaccharidosis-1H (MPS-1H) following Hematopoietic Stem Cell Transplantation (HSCT)
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
Deba, T.; Althaus, J.; Schwartz, O.; Penning, J.; Holzinger, D.; Kurlemann, G.: When It Is Not MS…—Differential Diagnosis of Optic Neuritis and Multifocal Inflammatory Cerebral Lesions in an Adolescent
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
Grzybowski, M.; Schänzer, A.; Pepler, A.; Neubauer, B. A.; Hahn, A.: STAC3-Associated Congenital Myopathy in a Boy of Turkish Ancestry with Severe Scoliosis and Early-Onset Respiratory Insufficiency
PP14
Schorling, D.; Pschibul, A.; Abicht, A.; Korinthenberg, R.: Supra- and Infratentorial Atrophy with Cortical Blindness Caused by Mutations in SEPSECS: Case Report
PP15
Szeles, G.; Neubauer, B. A.: NDUFV1: Identification of a Homozygous Mutation in a Patient with Leukodystrophy
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
Kaiser, N.; Magg, J.; Krestel, S.; Poets, C.; Krägeloh-Mann, I.: “Porphyria Plus”: Siblings with Homozygous Variegate Porphyria, a Complex Developmental Disorder and Hypomyelination
PP19
Brackmann, F.; Coras, R.; Rössler, K.; Rompel, O.; Trollmann, R.: Histopathological Proof of the Pathogenetic Role of a Rare GFAP Mutation in Alexander´s Disease with Isolated Flaccid Paraparesis
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
Balci, M.; Rostasy, K.; Frosch, M.: Paroxysmal Extreme Pain Disorder in a Girl at the Age of Three Months, Confirmed by Mutation of the SCN9A Gene
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
Kehrer, C.; Kehrer, M.; Groeschel, S.; Dufke, A.; Krägeloh-Mann, I.: Remarkable Genetic Finding in a Girl with Phenotype of Classic Pelizäus-Merzbacher Disease: Xq22.2 Microdeletion Including PLP1 and Other Genes
PP25
Herting, A.; Cloppenborg, T.; Hofmann-Peters, A.; Polster, T.: Dramatic Onset of Focal Seizures: Differentiating Structural Focal Epilepsy from Ring Chromosome 20
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