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

Abstracts (HTML) List of Authors

Bächli, H

Postural headache due to spontaneous intracranial hypotension in an adolescent

Bader, P

Myoclonic epilepsy as affection of central nervous system in Farber disease

Badinger, A

Coincidence of duplication in the PCDH 19 gene and focal cortical dysplasia

Baethmann, M

Fatal outcome in a case of recurrent acute necrotizing encephalopathy with RANBP2 gene mutation: importance and difficulty of an early MRI pattern recognition
Lafora disease in a 17-year-old boy due to a compound heterozygous mutation in the NHLRC1 gene
Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis in a 14-year-old girl probably associated with celiac disease
Confirmation of congenital mirror movements in a 19-month-old boy by detection of a de novo DCC mutation

Baldissera, I

Visual disorders in children with cerebral palsy
Intermittent eye motility disorder with elevation deficiency of one eye

Baltsavias, G

Management algorithm in newly diagnosed European moyamoya angiopathy: One year experience at the Moyamoya Center, University Children's Hospital Zurich

Bandowski, J

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

Banwell, B

Plasma exchange in pediatric central nervous system inflammatory demyelination
Pediatric neuromyelitis optica-beyond the optic nerve and spinal cord

Bargehr, C

Neuropsychological long-term outcome in children with SVT

Bast, T

Retrospective evaluation of antiepileptic drugs in patients with CDKL5 mutations
Panic attacks in girls with double cortex syndrome: ictal amaurosis
A double-blinded, randomized, head-to-head trial of levetiracetam versus sulthiame in benign epilepsy with centrotemporal spikes
Impairment of synaptic downscaling: A potential mechanism for neuropsychological deficits in continuous spike waves during slow wave sleep
Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations

Bauder, F

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

Bauer, A

Neurological outcome in pediatric patients with hemolytic uremic syndrome caused by Escherichia coli O104:H4

Bauer, P

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

Baumann, M

Status epilepticus caused by hypocalcaemia in a 6-month old child with hypoparathyroidism
Analysis of myogenic and endothelial progenitor cells in muscle biopsies of juvenile dermatomyositis
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
Epilepsy in children with cerebral palsy
Jeavon syndrome as a differential diagnosis of facial tics
Intermittent eye motility disorder with elevation deficiency of one eye

Baumgartner, B

Cardiomyopathy in a patient with Mb Duchenne first presenting as myocardial infarction in childhood
Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?

Baumgartner, M

Methylenetetrahydrofolate reductase deficiency: therapy and outcome (with video)
Head nodding-differential diagnostic main sign
Myoclonus dystonia without dystonia

Baumgartner, S

Epilepsy in children with cerebral palsy
Jeavon syndrome as a differential diagnosis of facial tics

Baumgartner Sigl, S

Epileptic seizures and chromosomal microdeletions/duplications

Baumgartner-Sigl, S

Status epilepticus caused by hypocalcaemia in a 6-month old child with hypoparathyroidism

Baz Bartels, M

Myoclonic epilepsy as affection of central nervous system in Farber disease

Beck, H

A mutation in the SCN2A gene associated with BFNIS leads to seizures and behavioral impairment in a mouse model

Becker, J

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

Becker, K

Neurodegeneration with brain iron accumulation type 4 by mutation in the C19orf12 gene: first time found in adolescent of Russian origin

Beier, J

Closure of meningomyeloceles with the 4-flap compound technique according to Ramirez

Benseler, S

Pediatric neuromyelitis optica-beyond the optic nerve and spinal cord

Berg, V

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

Berger, T

A physiological characterization of biphasic transcranial magnetic stimulation

Bernert, G

Progressive myoclonus epilepsy: a differential diagnosis from juvenile chorea Huntington disease

Bernhard, MK

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

Bernius, P

The Ulzibat method – a new surgical technique

Bertini, E

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

Bertsche, A

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

Bertsche, T

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

Berweck, S

Which covariates influence effectiveness of intensified robotic-assisted treadmill therapy in children with cerebral palsy
Intraventricular baclofen therapy in refractory secondary dystonia-Indication, methodology, safety, and first results
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
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

Biebl, A

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
Facial nerve palsy in children – is it as benign as supposed?

Bien, C

Anti-N-methyl-d-aspartate-receptor-encephalitis

Bien, CG

Central nervous system autoimmune syndrome associated with neuronal surface antibodies in the course of Enterovirus encephalitis
Uncommon presentation of voltage-gated potassium channel complex-antibody mediated central nervous system disease with eye movement disorder and ataxia

Bierhals, T

Confirmation of congenital mirror movements in a 19-month-old boy by detection of a de novo DCC mutation

Bigi, S

Plasma exchange in pediatric central nervous system inflammatory demyelination
Pediatric neuromyelitis optica-beyond the optic nerve and spinal cord

Bildstein, T

Epilepsy in children with cerebral palsy

Bimböse, P

Vitamin B in paediatric neurology

Bindt, C

Neurological outcome in pediatric patients with hemolytic uremic syndrome caused by Escherichia coli O104:H4

Biskup, S

Early childhood onset progressive myoclonic epilepsy phenotype caused by KCTD7 mutations
Paroxysmal dyskinesia due to PRRT2 mutation in 15-year-old female patient with benign familial infantile convulsions
Biotin-responsive basal ganglia disease in a 10-year-old German girl without SLC19A3 gene mutation
Mitochondrial encephalomyopathy presenting with deafness, mutism, ataxia and late onset external ophthalmoplegia caused by a mutation in the X-linked gene AIFM1

Biskup, W

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

Bittner, RE

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

Blank, C

Dramatic neurological signs in children with intussusception

Blankenburg, M

Quantitative sensory testing in children and adolescents with tension type headache: changes in nociceptive processing are not specific for migraine
Biotin-responsive basal ganglia disease in a 10-year-old German girl without SLC19A3 gene mutation

Blaschek, A

Early white matter changes in childhood multiple sclerosis
Case report: oculomotor apraxia in ataxia telangiectasia

Blassnig-Ezeh, A

Benign partial epilepsy of infancy as defined by Watanabe: 2 case reports

Blau, N

Tetrahydrobiopterin deficiencies: an international survey of clinical and biochemical features, treatment strategies and follow-up of 626 patients

Bley, A

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

Bluemcke, I

Coincidence of duplication in the PCDH 19 gene and focal cortical dysplasia

Boeckler, D

Hereditary neuralgic Amyotrophy – a case report of an affected family

Böhringer, E

Lafora disease in a 17-year-old boy due to a compound heterozygous mutation in the NHLRC1 gene
Characteristic MRI finding in severe tick-borne encephalitis in children and the effect of immunoglobulin G on the course of the disease

Böhringer, EM

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

Bok, L

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

Bölsterli Heinzle, B

Impairment of synaptic downscaling: A potential mechanism for neuropsychological deficits in continuous spike waves during slow wave sleep

Bolte, A

Nicolaides-Baraitser Syndrome

Boltshauser, E

Tectocerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum
Hemimegalencephaly: involvement of cranial nerves and intracranial vessels
Congenital myopathy or neurofibromatosis type 1?
Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?

Bonfert, M

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

Bönnemann, C

Divergence in clinical presentation of Dynamin2-caused centronuclear myopathy is associated with mutations in distinct parts of the DNM2 gene

Borggraefe, I

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

Borggräfe, I

Anti-NMDAR encephalitis in children: Delineation of the epileptic phenotypes and EEG findings
A double-blinded, randomized, head-to-head trial of levetiracetam versus sulthiame in benign epilepsy with centrotemporal spikes

Borusiak, P

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

Bosemani, T

Hemimegalencephaly: involvement of cranial nerves and intracranial vessels

Brackmann, F

Regenerative neuronal proliferation in hypoxic developing mouse brain is transient and modified by erythropoietin treatment
Interplay of inflammation and hypoxia in perinatal brain injury

Brockmann, K

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders
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

Brückner, F

Isolated trochlear palsy in Lyme disease may persist

Brueckner, F

Paroxysmal dyskinesia due to PRRT2 mutation in 15-year-old female patient with benign familial infantile convulsions
13-year-old girl with antiphospholipid antibody-related chorea

Bruhn, H

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

Brunner, J

Lyme neuroborreliosis: aetiology and diagnosis of facial palsy in children from Tyrol

Brunner-Krainz, M

Vagal nerve stimulator in childhood absence epilepsy: 2 case reports
PANK2 disease with early onset: clinical and radiologic findings under short term treatment with deferiprone
Rigorous investigation of opsoclonus-myoclonus-syndrome associated neuroblastoma: three case reports
Antibodies against Mycoplasma pneumoniae in three patients with meningoencephalitis-causal relationship or epiphenomenon?
Tuberous sclerosis complex-successful therapy with everolimus
Autologous stem cell transplantation – a therapeutic option in childhood onset chronic inflammatory demyelinating polyneuroradiculopathy?

Bubl, BM

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

Buchfelder, M

Closure of meningomyeloceles with the 4-flap compound technique according to Ramirez

Büchner, B

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

Buck, A

Management algorithm in newly diagnosed European moyamoya angiopathy: One year experience at the Moyamoya Center, University Children's Hospital Zurich

Burfeind, P

Progressive myoclonus epilepsy: a differential diagnosis from juvenile chorea Huntington disease

Bürger, U

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

Bürki, S

Hemimegalencephaly: involvement of cranial nerves and intracranial vessels

Busch, V

Central nervous system demyelination complicating Guillain-Barré syndrome

Busche, A

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

Bushby, K

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

Büsscher, U

Isolated trochlear palsy in Lyme disease may persist

Bußmann, C

Postural headache due to spontaneous intracranial hypotension in an adolescent
Case report: cerebral atrophy-induced hygroma in a 3-month-old floppy infant: Unusual and severe manifestation of 5-methylentetrahydrofolate reductase (MTHFR) deficiency