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

Abstracts (HTML) List of Authors

Kalkan Ucar, S

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Kalmus, U

Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Kämmerer, F

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

Kammler, G

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Kamrath, C

Hypothalamic and pituitary affection after traumatic brain injury in childhood

Karch, D

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Karlmeier, A

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

Kehrer, C

Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

Keimer, R

Helmets or physiotherapy? Natural history and treatment options for non-synostotic skull deformity in children – results of a literature search
Neurofibromatosis type 1 (Recklinghausen's Disease). Who was Friedrich Daniel von Recklinghausen?

Kentouche, K

ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome

Kerber, K

HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia

Kessler, S

Feasibility of functional MRI in children and adolescents with neurological disorders – the Vogtareuth experience

Kieslich, M

Calpainopathy as differential diagnosis of idiopathic hyperCKemia
Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E
De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome
Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome
Hypothalamic and pituitary affection after traumatic brain injury in childhood
DWI and Proton weighted MRI seems to be a highly sensitive marker of pathological activity in pediatric multiple sclerosis

Kilian, D

High phenotype variability in CLN3 patients with identical genotype

Kim, KS

Evaluation of general movements in infants with an electromagnetic tracking system – first steps towards the discrimination of variability of spontaneous movements

Kirschner, J

Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease
6q13–6q14.1 deletion syndrome characterized by congenital myopathy, mental retardation and minor dysmorphisms – a case report

Klein, C

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

Klinge, L

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

Kluger, G

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
Therapy-refractory symptomatic focal epilepsy with methylmalonic aciduria: Case report on positive effect of rufinamide

Kluijtmans, LAJ

Towards the genetic defect in MEGDEL syndrome: Four novel patients

Knöppler, K

From pediatric to adult-orientated care: the „Berliner Transitionsprogramm“

Knuf, M

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

Koch, KA

Neuropathia vestibularis: a differential diagnosis of vertigo

Köhler, B

Neurofibromatosis type 1 (Recklinghausen's Disease). Who was Friedrich Daniel von Recklinghausen?

Köhler, C

BARTH SYNDROME with a new mutation without cardial involvement
Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Köhler, U

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

Kohlhase, J

Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases

Kohlschütter, 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)

Kolb, R

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

Kölker, S

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Komini, E

Is the assessment of general movements helpful for the prediction of the neurodevelopmental outcome in a child with symptomatic congenital CMV infection?

Konietzko, A

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

König, R

De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome

König, S

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

Korenke, CG

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

Korinthenberg, R

Application of Array-based Comparative Genome Hybridization in patients with mental retardation
Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease
HFOs (80–450Hz) recorded with standard intracranial electrodes reflect epileptogenicity in children with focal cortical dysplasia
Long-term follow up of preterms below 33 weeks of gestation at school age

Korn-Merker, E

Autosomal dominant nocturnal frontal lobe epilepsy in mother and daughter treated with an unusual combination of anticonvulsants
Ketogenic diet in children with difficult to treat epilepsies – 6 years of clinical experience

Köstenberger, M

Presentation of 16 paediatric patients manifesting with stroke during 2006–2010

Kotzaeridou, U

Novel Missence Mutation in the BCS1L Gene as a Cause of mitochondrial encephalopathy with Fanconi Syndrome
Macrocephaly with dilated Virchow-Robin spaces: a new clinical entity?

Koustenis, E

Impairment of executive functions in pediatric posterior fossa tumor survivors

Kraemer, N

The use of Quantitative sensory testing for sensible diabetic neuropathy in children and adults
Quantitative Sensory Testing in children and adolescents with cerebral palsy
Developmental and sex differences of somatosensory perception

Krägeloh-Mann, I

Evaluation of myotonia and therapeutic implications: about a child with myotonia congenita (Becker disease)
Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?
Editorial
Somatosensory system in congenital hemiparesis: clinical assessment and resting state functional connectivity MRI analysis
Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration
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
Intensive immunmodulatory therapy in a 3 year old child with anti-NMDA-receptor encephalitis

Kranendijk, M

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

Kress, W

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

Krieg, EM

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Kruse, B

Blindness due to unrecognized bilateral optic nerve sheath meningioma in a 14-year-old girl (case report)

Kuhlmann, T

CK elevation and progressive toe walking in a 14-year old girl

Kun, N

Patient safety on a paediatric neurology ward – prevention of drug administration errors by cooperation with clinical pharmacists

Kunz, U

Current practice in the management of newborns with spina bifida in Germany

Kurian, MA

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

Kurlemann, G

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
Narcolepsy in early childhood – a case study with video
First experiences with Lacosamid for treatment of therapy-resistant epilepsy in early childhood

Kutschke, G

Temporary neonatal respiratory disorder – Early-onset-variation of Ondine's curse

Kwiecien, R

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