DOI : 10.1055/s-00000041

Neuropediatrics

Issue 02 · Volume 44 · March 2013 DOI: 10.1055/s-003-24657


Abstracts of the 39th Annual Meeting of the Society of Neuropediatrics
Innsbruck, 25th to 28th April 2013

Chair: PD Dr. Kevin Rostásy, Kinderklinik Innsbruck, Medizinische Universität Innsbruck
Abstracts (HTML) List of Authors
PS14_1102
Bubl, BM; Böhringer, EM; Schneider, JF; Mayr, JA; Datta, AN: Complex I and IV deficiency in an athletic adolescent with mild global retardation, exertional dyspnea, hypertrophic cardiomyopathy, and slight dysdiadochokinesia
PS14_1147
Kehrer, C; Gröschel, S; Krägeloh-Mann, I: Loss of speech in late-infantile and juvenile metachromatic leukodystrophy
PS14_1222
Löbel, U; Meyer-Osores, A; Sedlacik, J; Schweser, F; Grosse, R; Deistung, A; Reichenbach, JR; Schulz, A; Hartig, M; Kohlschütter, A: Longitudinal Evaluation of Brain Iron Depositions in a Patient With Confirmed c19orf12 Mutation Using R2* Relaxometry and Quantitative Susceptibility Mapping
PS14_1078
Heider, C; Rossegg, U; Lanzersdorfer, R; Schmitt, K: Ischemic Stroke in a 14-year-old Boy with Homozygous C677T MTHFR Mutation
PS14_1223
Kang, KS; Doszpod, N; Loew, YM; Dütemeyer, T; Müller, C; Schubert-Bast, S; Bußmann, C; Kölker, S; Assmann, B: Case report: cerebral atrophy-induced hygroma in a 3-month-old floppy infant: Unusual and severe manifestation of 5-methylentetrahydrofolate reductase (MTHFR) deficiency
PS14_1097
Bley, A; Müller, I; Löbel, U; Schrum, J; Santer, R; Hartmann, M; Kohlschütter, A: Hematopoietic stem cell transplantation (HSCT) in nine patients with juvenile MLD
PS14_1029
Kettwig, M; Biskup, S; Klinge, L; Gärtner, J; Huppke, P: Mitochondrial encephalomyopathy presenting with deafness, mutism, ataxia and late onset external ophthalmoplegia caused by a mutation in the X-linked gene AIFM1
PS14_1022
Stange, M; Schröder, C; Utzig, N; Lauffer, H: Sturge-Weber syndrome with hyposomatotropism
PS14_1156
Lüsebrink, N; Steiner, C; Porto, L; Kieslich, M: Absent biochemical evidence at an early age delayed diagnosis in a patient with a clinically severe form of peroxisomal biogenesis disorder
PS14_1148
Heußinger, N; Saake, M; Mennecke, A; Dörr, HG; Trollmann, R: X-linked Creatine transport deficiency: Phenotypic variability in a family with SLC6A8 gene mutation