Abstracts of the 39th Annual Meeting of the Society of Neuropediatrics

Abstracts (HTML) List of Authors

Saadi, S

Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis in a 14-year-old girl probably associated with celiac disease

Saake, M

X-linked Creatine transport deficiency: Phenotypic variability in a family with SLC6A8 gene mutation

Sánchez Albisua, I

Natural course of pontocerebellar hypoplasia Type 2
Specific pontine MRI-pattern is a helpful marker to recognize ataxia Charlevoix-Saguenay

Sánchez Fernández, I

Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations

Sanford, L

Exome sequencing in 30 neurodegeneration with brain iron accumulation patients

Santer, R

Hematopoietic stem cell transplantation (HSCT) in nine patients with juvenile MLD

Santorelli, FM

Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?

Sarikaya, S

Recurrent fever episodes after treatment of a subdural empyema: persisting infection or autoimmunological reaction?

Sarnat, HB

Hemimegalencephaly: involvement of cranial nerves and intracranial vessels

Sassen, R

Lacosamide in childhood-results of a retrospective analysis

Saurenmann, T

Differential diagnosis of central nervous system vasculopathies: two case reports

Saxena, A

Rigorous investigation of opsoclonus-myoclonus-syndrome associated neuroblastoma: three case reports

Schaffer, M

Treatment of therapy-resistant sialorrhea with transdermal scopolamine in a 10-year-old girl with Wolf-Hirschhorn syndrome

Schallner, J

Hypertrophic olivary degeneration: a differential diagnosis to consider following surgical intervention in the posterior cranial fossa: review and two case reports

Schallner, JC

Central nervous system autoimmune syndrome associated with neuronal surface antibodies in the course of Enterovirus encephalitis

Schanda, K

N-Methyl-D-Aspartate Receptor Antibodies in Neuroinflammatory Diseases

Schänzer, A

Quantification of muscular morphological alterations in patients with infantile and early-juvenile Pompe disease

Schaper, J

Transient ischemic attack in a 5-year-old girl due to focal vasculitis in neuroborreliosis
Recurrent fever episodes after treatment of a subdural empyema: persisting infection or autoimmunological reaction?
Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

Schara, U

Molecular mechanisms of juvenile dermatomyositis
Genotype-phenotype correlation in congenital muscular dystrophies with defective O-glycosylation of #CHR:alpha_LOWER#-dystroglycan
Alpha-dystroglycanopathies: Clinical and genetic variability
Tetrasomy X and neuropathy: double trouble or extended phenotype?
Neurodegeneration with brain iron accumulation type 4 by mutation in the C19orf12 gene: first time found in adolescent of Russian origin

Scheer, I

Differential diagnosis of central nervous system vasculopathies: two case reports
Management algorithm in newly diagnosed European moyamoya angiopathy: One year experience at the Moyamoya Center, University Children's Hospital Zurich
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation

Scheffner, T

Clinical symptoms of six children with thiamin pyrophosphokinase deficiency

Schell-Apacik, C

Could a mutation in the TGIF-1 gene result in phenotypical expressions like pachygyria, intracerebral calcification, and neonatal epilepsy?

Schettler, KF

Dramatic neurological signs in children with intussusception

Schimmel, M

Anti-NMDAR encephalitis in children: Delineation of the epileptic phenotypes and EEG findings
Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease
Uncommon presentation of voltage-gated potassium channel complex-antibody mediated central nervous system disease with eye movement disorder and ataxia

Schlachter, K

Clinical symptoms of six children with thiamin pyrophosphokinase deficiency
Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations

Schlotawa, L

Disequilibrium syndrome caused by an unusual constellation of VLDLR mutations

Schmidt, I

Muscle-specific discordant skewing of X-chromosome inactivation leads to different clinical phenotypes of Duchenne muscular dystrophy in two monozygotic female twins

Schmidt, WM

Muscle-specific discordant skewing of X-chromosome inactivation leads to different clinical phenotypes of Duchenne muscular dystrophy in two monozygotic female twins

Schmiedel, G

PNPO mutations in patients with pyridoxine dependent epilepsy

Schmitt, B

Infantile choreatic movements, early onset severe epileptic encephalopathy, and primary developmental impairment as a result of a de novo missense mutation in the SCN2A gene
Impairment of synaptic downscaling: A potential mechanism for neuropsychological deficits in continuous spike waves during slow wave sleep

Schmitt, K

Transverse myelitis versus encephalitis disseminata
Paroxysmal kinesogenic dyskinesia
Congenital myasthenic syndromes: a difficult approach to diagnosis and therapy
Facial nerve palsy in children – is it as benign as supposed?
Ischemic Stroke in a 14-year-old Boy with Homozygous C677T MTHFR Mutation

Schmitt-Mechelke, T

Primary central nervous system vasculitis in childhood: more frequent and variable than thought

Schmitz, N

Myoclonic epilepsy as affection of central nervous system in Farber disease

Schnakenbeurg, C von

Diagnostics and management of pediatric headaches at a University Hospital

Schneider, HC

Clinical symptoms of six children with thiamin pyrophosphokinase deficiency

Schneider, JF

Complex I and IV deficiency in an athletic adolescent with mild global retardation, exertional dyspnea, hypertrophic cardiomyopathy, and slight dysdiadochokinesia

Schnekenbühl, S

Influence of lovastatin on synaptic plasticity and fear conditioning in humans with in BDNF val/met genotype

Schober, H

Benign partial epilepsy of infancy as defined by Watanabe: 2 case reports
Pyridoxine-dependent epilepsy: case report
Weakness of the limb girdle type with finger tremor and elevated creatine kinase

Schoberer, M

Central nervous system demyelination complicating Guillain-Barré syndrome

Scholl Bürgi, S

Epileptic seizures and chromosomal microdeletions/duplications

Schönau, E

Young adults with dyskinetic cerebral palsy improve subjectively on pallidal stimulation but not in formal dystonia, gait, speech, and swallowing testing

Schönberger, J

Postural headache due to spontaneous intracranial hypotension in an adolescent

Schöner, A

Connatal brain hemorrhage as fetal manifestation of Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)

Schöning, M

Specific pontine MRI-pattern is a helpful marker to recognize ataxia Charlevoix-Saguenay

Schoser, B

Molecular mechanisms of juvenile dermatomyositis
Analysis of myogenic and endothelial progenitor cells in muscle biopsies of juvenile dermatomyositis

Schotten, KJ

A double-blinded, randomized, head-to-head trial of levetiracetam versus sulthiame in benign epilepsy with centrotemporal spikes

Schöttler-Glas, A

Characteristic MRI finding in severe tick-borne encephalitis in children and the effect of immunoglobulin G on the course of the disease

Schröder, C

Sturge-Weber syndrome with hyposomatotropism

Schröder, S

Alternating hemiplegia of childhood is caused by heterozygous de novo mutations in the ATP1A3 gene: The expanding mutational spectrum of ATP1A3-related dystonic movement disorders

Schroeder, AS

Early white matter changes in childhood multiple sclerosis

Schroeder, S

Which covariates influence effectiveness of intensified robotic-assisted treadmill therapy in children with cerebral palsy

Schrum, J

Hematopoietic stem cell transplantation (HSCT) in nine patients with juvenile MLD

Schubert, M

Quality of life and mental health of neuropediatric patients

Schubert-Bast, S

Anti-NMDAR encephalitis in children: Delineation of the epileptic phenotypes and EEG findings
Lacosamide in childhood-results of a retrospective analysis
Implementation of a (neuro-)psychological screening of infants with newly diagnosed epilepsy. Practicability and first results concerning potential premorbid problems
Case report: cerebral atrophy-induced hygroma in a 3-month-old floppy infant: Unusual and severe manifestation of 5-methylentetrahydrofolate reductase (MTHFR) deficiency

Schuler, E

Anti-NMDAR encephalitis in children: Delineation of the epileptic phenotypes and EEG findings
Atypical Infantile neuroaxonal dystrophy: a case report
Behçet disease – a rare differential diagnosis of inflammatory CNS disease in children

Schülke, M

Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease

Schulz, A

DEM-CHILD – a treatment-oriented research project of NCL disorders as a major cause of dementia in childhood
Longitudinal Evaluation of Brain Iron Depositions in a Patient With Confirmed c19orf12 Mutation Using R2* Relaxometry and Quantitative Susceptibility Mapping

Schuster, M

Central or combined central and peripheral hearing loss at an early born child

Schütz, C

Implementation of a (neuro-)psychological screening of infants with newly diagnosed epilepsy. Practicability and first results concerning potential premorbid problems

Schwartz, O

Ketogenic diet in children with pharmacoresistant epilepsy

Schwarz, R

Kernicterus: a case study
Transverse myelitis versus encephalitis disseminata
Steroids can influence the outcome of acute necroting encephalopathy
Congenital myasthenic syndromes: a difficult approach to diagnosis and therapy

Schwarz, T

Rigorous investigation of opsoclonus-myoclonus-syndrome associated neuroblastoma: three case reports

Schwarzmayr, T

Exome sequencing in 30 neurodegeneration with brain iron accumulation patients

Schwerin-Nagel, A

Vagal nerve stimulator in childhood absence epilepsy: 2 case reports
Rigorous investigation of opsoclonus-myoclonus-syndrome associated neuroblastoma: three case reports
Tuberous sclerosis complex-successful therapy with everolimus
Autologous stem cell transplantation – a therapeutic option in childhood onset chronic inflammatory demyelinating polyneuroradiculopathy?

Schweser, F

Longitudinal Evaluation of Brain Iron Depositions in a Patient With Confirmed c19orf12 Mutation Using R2* Relaxometry and Quantitative Susceptibility Mapping

Schwindt, W

Rare cause of oculomotor palsy
Ocular myositis

Schwinger, W

Autologous stem cell transplantation – a therapeutic option in childhood onset chronic inflammatory demyelinating polyneuroradiculopathy?

Sedlacik, J

Longitudinal Evaluation of Brain Iron Depositions in a Patient With Confirmed c19orf12 Mutation Using R2* Relaxometry and Quantitative Susceptibility Mapping

Seidel, C

Ocular myasthenia with both AChR and MuSK antibodies

Seidel, MG

Autologous stem cell transplantation – a therapeutic option in childhood onset chronic inflammatory demyelinating polyneuroradiculopathy?

Seidel, U

Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease

Seidl, R

Muscle-specific discordant skewing of X-chromosome inactivation leads to different clinical phenotypes of Duchenne muscular dystrophy in two monozygotic female twins
Quality of life and mental health of neuropediatric patients

Seiler, A

Effects of CDK5RAP2 downregulation in murine embryonic stem cells correlate with cellular phenotype in MCPH3 patients

Seitz, A

Postural headache due to spontaneous intracranial hypotension in an adolescent

Seufert, J

Bone health and vitamin D metabolism in children and adolescents with Duchenne muscular dystrophy compared with other neuromuscular diseases and cerebral palsy

Severien, C

Biotin-responsive basal ganglia disease in a 10-year-old German girl without SLC19A3 gene mutation

Sibon, O

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) – an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation

Siebner, H

A physiological characterization of biphasic transcranial magnetic stimulation

Siegel, C

Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature

Sigl-Baumgartner, S

Neuropsychological long-term outcome in children with SVT

Sigler, M

Apheresis in the treatment of an acute attack of a demyelinating central nervous system disorder

Simma, B

Benign partial epilepsy of infancy as defined by Watanabe: 2 case reports
Pyridoxine-dependent epilepsy: case report
Weakness of the limb girdle type with finger tremor and elevated creatine kinase

Smitka, M

Hypertrophic olivary degeneration: a differential diagnosis to consider following surgical intervention in the posterior cranial fossa: review and two case reports
Mycoplasma pneumoniae and Borrelia burgdorferi as cause for facial paralysis in children: single-center experience of 10 years
Central nervous system autoimmune syndrome associated with neuronal surface antibodies in the course of Enterovirus encephalitis
Rituximab and Cyclophosphamide as an alternative in immunomodulatory therapy in Rasmussen encephalitis

Soelva, V

Frontocerebellar tract lesions revealed by tractography in pediatric posterior fossa tumor survivors

Sorantin, E

Autologous stem cell transplantation – a therapeutic option in childhood onset chronic inflammatory demyelinating polyneuroradiculopathy?

Specht, S

Anti-N-methyl-d-aspartate-receptor encephalitis in a patient with acute organic brain syndrome with catatonia

Sperl, W

Clinical symptoms of six children with thiamin pyrophosphokinase deficiency
Atypical and mild clinical manifestation in a boy with mitochondrial ATP6 mutation
Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype
Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing
The German network for mitochondrial disorders (mitoNET)

Spiegler, J

Do developmental problems perceived by parents of very-low-birth weight infants during the first year of life correlate with objective criteria at 2 years of age?
Contactin-associated protein-like 2 antibodies (CASPR2) encephalopathy in 3-year-old dizygotic twins

Spors, B

A large homozygous microdeletion in the RAB3GAP1 gene causes Warburg Micro syndrome

Spranger, S

Heterozygous deletion of exon 3 of phospholipase C β1 gene causes neonatal epileptic encephalopathy?

Spreiz, A

Epileptic seizures and chromosomal microdeletions/duplications
Familial occurrence of a 16p13 microdeletion including GRIN2A as a cause of developmental delay and epilepsy with continuous spike and waves during sleep

Srivastava, R

Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease

Stange, M

Sturge-Weber syndrome with hyposomatotropism

Staudt, M

Refractory epilepsy in a patient with Doose syndrome: favorable response after add-on therapy with bromide
Coincidence of duplication in the PCDH 19 gene and focal cortical dysplasia
Hemimegalencephaly: involvement of cranial nerves and intracranial vessels
Intraventricular baclofen therapy in refractory secondary dystonia-Indication, methodology, safety, and first results
Stereo-EEG in children with therapy-refractory epilepsies: Robot-assistance plus stereotaxy combines speed with maximal precision for the implantation of multiple depth electrodes
Activities of daily living in children with hemiparesis: Influence of cognitive functions and motor competence on quality of performance
Severe dystonia caused by hemolytic-uremic syndrome with characteristic MRI scans
Immediate improvement of paretic hand function after epilepsy surgery in congenital hemiparesis
Interhemispheric connectivity in congenital hemiparesis
Outcome measurement in clinical pediatric neurorehabilitation: assessment of motor and process skills evaluates the effect of therapy in the area of activity of daily living
Characteristic MRI finding in severe tick-borne encephalitis in children and the effect of immunoglobulin G on the course of the disease
Different courses of Foix-Chavany-Marie syndrome (FCMS) in children with herpes encephalitis
Confirmation of congenital mirror movements in a 19-month-old boy by detection of a de novo DCC mutation

Steffensen, B

Current care practice in Duchenne muscular dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Steinbeis-von Stülpnagel, C

Lafora disease in a 17-year-old boy due to a compound heterozygous mutation in the NHLRC1 gene

Steiner, C

Absent biochemical evidence at an early age delayed diagnosis in a patient with a clinically severe form of peroxisomal biogenesis disorder

Steinfeld, R

Stepwise adaptation of treatment with calcium folinate in different modes of application leads to optimal therapeutic results for patients with cerebral folate transport deficiency

Stenzel, W

Molecular mechanisms of juvenile dermatomyositis

Stephani, U

German-wide survey on the management of status epilepticus in children

Steuernagel, P

Connatal brain hemorrhage as fetal manifestation of Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)

Stockler, S

PNPO mutations in patients with pyridoxine dependent epilepsy

Stöckler, S

Lysine restricted diet for pyridoxine-dependent epilepsy: First reports and future trial

Stodieck, S

Paroxysmal dyskinesia due to PRRT2 mutation in 15-year-old female patient with benign familial infantile convulsions

Stoffels, J

Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis in a 14-year-old girl probably associated with celiac disease

Striano, P

Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations

Strobl, K

Panic attacks in girls with double cortex syndrome: ictal amaurosis

Strobl, W

Results of calcaneo stop arthroereisis in children with neuromotoric disorders

Strobl, WM

Guidelines and examples for orthotic treatment of children and youth in case of myelomeningocele

Stroet, A

A prospective study on 71 children to investigate normative pediatric values in optical coherence tomography

Strom, T

Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

Strom, TM

Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature
Exome sequencing in 30 neurodegeneration with brain iron accumulation patients

Struys, E

Lysine restricted diet for pyridoxine-dependent epilepsy: First reports and future trial
PNPO mutations in patients with pyridoxine dependent epilepsy

Stülpnagel, C von

Refractory epilepsy in a patient with Doose syndrome: favorable response after add-on therapy with bromide
Characteristic MRI finding in severe tick-borne encephalitis in children and the effect of immunoglobulin G on the course of the disease

Stummer, W

Rare cause of oculomotor palsy

Stüve, B

Nicolaides-Baraitser Syndrome

Synofzik, M

Specific pontine MRI-pattern is a helpful marker to recognize ataxia Charlevoix-Saguenay

Syrbe, S

Ambulatory follow-up care of children treated with anticonvulsants and knowledge of parents regarding emergency treatment and safety precautions