Abstracts of the 36th Annual Meeting of the Society of Neuropediatrics

Abstracts (HTML) List of Authors

Salomons, G

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation
Infantile Alexander Disease mimicking multilocular astrocytoma

Sanchez-Albisua, I

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)

Sanger, T

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Saraph, V

Urodynamic findings by routine preoperative assessment in 46 scoliotic patients

Sass, JO

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Schallner, J

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Schara, U

ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay
Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)
Towards the genetic defect in MEGDEL syndrome: Four novel patients

Scharbert, F

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Scheer, I

Cerebral MRI findings in adolescents with congenital heart disease

Scheffner, T

Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Schimmel, M

Improvement of SSPE after carbamazepine: natural course or therapeutic effect?

Schlunz-Hendann, M

The plexiform neurofibroma is an important differential diagnosis of congenital facial swelling

Schmidt, J

Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene

Schneider, S

Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Schoser, B

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

Schrader, C

L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation

Schreiber, G

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Schröder, S

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity
Impaired satiety regulation in obese patients with craniopharyngioma

Schubert, S

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Schulz, A

High phenotype variability in CLN3 patients with identical genotype
Identification of potential biomarkers and modifiers of CLN3-disease progression
Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Schulze-Bonhage, A

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time
HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Schwartz, O

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features
CK elevation and progressive toe walking in a 14-year old girl
Narcolepsy in early childhood – a case study with video
First experiences with Lacosamid for treatment of therapy-resistant epilepsy in early childhood

Schwarz, M

Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalisation

Schwarze, CP

Growth hormone treatment of patients with neurofibromatosis type 1

Schwerin-Nagel, A

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Schwilling, E

Language abilities after early left-hemispheric lesions – neural and cognitive compensation
Language abilities after early left-hemispheric lesions – Production and comprehension of complex linguistic structures

Schwindt, W

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features
Diffusion tensor imaging demonstrates effectiveness of immunotherapy for Rasmussen's encephalitis
CK elevation and progressive toe walking in a 14-year old girl

Seitz, A

Macrocephaly with dilated Virchow-Robin spaces: a new clinical entity?

Selter, M

Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E
Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

Shamdeen, G

The role of EEG in monitoring cerebral dysfunction before and after cardiac surgery in children congenital heart disease

Shatat, M

The role of EEG in monitoring cerebral dysfunction before and after cardiac surgery in children congenital heart disease

Shazi, N

Steadiness/stability of antiepileptic drugs in serum, plasma and whole-blood samples under various storage methods

Shermin-Levine, S

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Shoukier, M

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Simbrunner, J

Infantile Alexander Disease mimicking multilocular astrocytoma

Siniatchkin, M

Dynamic analysis of absence seizures in humans: all the same but all different
EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Skrabl-Baumgartner, A

Acute blindness – a case report of Neuromyelitis Optica (Devic Syndrome) in adolescence

Smeitink, JAM

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Smitka, M

Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia

Sommer, A

Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes

Sorantin, E

First manifestation and clinical course of eleven paediatric patients with Multiple Sclerosis assigned to the University Hospital of Children and Adolescents of the Medical University Graz from 2001 to 2009
Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Sörensen, N

Experiences with Laparoscopic Adjustable Gastric banding (LAGB) and Sleeve Gastrectomy (SG) in the treatment of patients with childhood craniopharyngioma and morbid obesity

Sperner, J

Three Children with Alpers' syndrome 2007–2010
Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy

Spiegler, J

Three Children with Alpers' syndrome 2007–2010
Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy
Intravenous Lacosamid in refractory convulsive status epilepticus

Spohr, HL

Polymicrogyria in Fetal Alcohol Syndrome

Sprinz, A

Specific motion patterns of the sagittal, frontal and transversal plane in children with bilateral spastic cerebral palsy: Preliminary results of a cross-sectional study
Robotic-assisted gait training improves gait parameters and functional mobility in patients wit cerebral palsy – preliminary results of a longitudinal study

Stark, W

European paediatric patients with neuromyelitis optica: a good prognosis for most and seronegative to NMO-IgG

Staudt, M

Remi-Pro: a standardized method to document the course of remission and finding of therapeutic goals in children and adolescents after severe acquired brain-lesions
Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis
Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience
Asymmetrical localisation of the motor cortex after perinatally acquired intracerebral hemorrhage: Volume shift versus neuroplasticity

Steinfeld, R

Clinical signs and treatment of cerebral folate transport deficiency, a novel inherited disorder of folate metabolism

Steinlin, M

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Stemmler, M

Neurodevelopmental long-term outcome in VLBW preterm infants born in 2000–2004

Stephani, U

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time
Dynamic analysis of absence seizures in humans: all the same but all different
EEG-fMRI: Including sleep-induced potentials in the general linear model improves spatial accordance with epileptic focus

Sterl, E

Urodynamic findings by routine preoperative assessment in 46 scoliotic patients

Stettner, GM

FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers

Stoetter, M

Phenotype and long-term follow-up of juvenile Selenoprotein N1-related myopathy (SEPN1-RM)

Storch, S

Identification of potential biomarkers and modifiers of CLN3-disease progression

Storm van's Gravesande, K

Application of Array-based Comparative Genome Hybridization in patients with mental retardation

Stötter, M

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)

Strassburg, HM

A new concept for the neuropsychological testing in very and extreme prematures at the age of more than 5 years

Streibert, PF

MRI in children with epilepsy and hydrocephalus – the clinical relevance of improved techniques

Streichert, T

Identification of potential biomarkers and modifiers of CLN3-disease progression

Ströbele, H

A new concept for the neuropsychological testing in very and extreme prematures at the age of more than 5 years

Strobl, K

Functional hemispherotomy for refractory epilepsy in pediatric patients: the right person at the right time

Strohbusch, M

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease

Stülpnagel, C von

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases
Therapy-refractory symptomatic focal epilepsy with methylmalonic aciduria: Case report on positive effect of rufinamide