Abstracts of the 35th Annual Meeting of the Society of Neuropediatrics

Abstracts (HTML) Autorenliste

Kabus, M.

Severe dilative Cardiomyopathy in mucopolysaccharidosis type 1 (Hurler's Syndrome)

Kaindl, A. M.

Long-term effects on the developing brain through a brief alteration of NMDA or GABAA receptor mediated neurotransmission
Microglia express functional NMDA receptors: A novel finding and a promise for innovative treatment of excitotoxic and inflammatory brain disease
Neuropathologic findings in patients with primary autosomal recessive microcephaly

Karall, D.

Proinflamatory cytokines in children with febrile seizures
Cardiac arrest in a patient with glutaric aciduria type II

Karch, D.

Looking at General Movements (GM) with a computer-aided approach. First results of a study in progress on the early detection of infantile cerebral palsy (ICP)

Karnath, H. O.

Early determination of somatosensory cortex

Kasahara, M.

GLUT1 deficiency syndrome – A novel phenotype and a novel mutation

Kattner, E.

Pyridoxine dependent epileptic encephalopathy mimicking neonatal abstinence syndrome – a case report with video documentation

Kehrer, C.

Clinical course of two siblings with Metachromatic Leukodystrophy (MLD) with and without Stem cell transplantation (SCT)
A new score for assessing white matter changes in metachromatic leukodystrophy

Kehrer, M.

The development of cerebral perfusion during the first three years of life: Long-term follow-up study of cerebral blood flow volume measurement in two healthy children

Keller-Stanislawski, B.

VACENC – A retrospective and prospective study of clinical and genetic characteristics of vaccine encephalopathies: preliminary clinical data

Kerr, A. M.

A possible association between genotypes and early signs of Rett disorder

Keyvani, K.

A novel ACTA- 1 mutation in a child with Nemaline Myopathy and reduced acid alpha-glucosidase activity

Kiening, K.

Deep brain stimulation in children and adolescents with dystonia

Kim, K. S.

Full clinical recovery after acute haemolytic uraemic syndrome (HUS) with basal ganglia involvement and severe dystonia. A case report
Looking at General Movements (GM) with a computer-aided approach. First results of a study in progress on the early detection of infantile cerebral palsy (ICP)

Kim, S.

Pyridoxine dependent epileptic encephalopathy mimicking neonatal abstinence syndrome – a case report with video documentation

Kipp, K. H.

Modified memory processes in children with febrile seizures: Analysis of event-related potentials

Kirmess, B.

Diffusion tensor imaging (DTI) of callosal motor fibers correlates with functional impairment in children with periventricular leukomalacia

Kirschner, J.

Treatment of Duchenne muscular dystrophy with cyclosporin A – A randomized, double-blind, placebo controlled trial
Severe confusion and agitation as predominant symptom of a hemiplegic migraine with mutation in ATP1A2

Klaiber, M.

Robotic-assisted treadmill therapy enhances motor functions in children with bilateral spastic cerebral palsy

Klein, A.

Infantile Pompe's disease under enzyme replacement therapy: Marked cognitive and speech delay but practically normal motor development

Klepper, J.

Hydrocephalus as a rare clinical symptom in a patient with multiple sulfatase deficiency
GLUT1 deficiency syndrome – A novel phenotype and a novel mutation
GLUT1 deficiency syndrome in a consanguineous Arab family carrying a novel homozygous missense mutation

Klopstock, T.

mitoNET – German Network for mitochondrial disorders

Klose, J.

Long-term effects on the developing brain through a brief alteration of NMDA or GABAA receptor mediated neurotransmission

Kloss, M.

Deep brain stimulation in children and adolescents with dystonia

Kluger, G.

Provocation of seizures by vaccination with children suffering from SCN1A-mutation
Fast recovery after 5 months in persistent vegetative state
Patients with Dravet's syndrome and SCN1A-mutation with a benign course of illness – A case report with 6 patients

Kmiec, T.

Clinical characterisation of NBIA patients with and without mutation in PANK2 gene

Knecht, B.

Acute basilar artery thrombosis in childhood: A therapeutic dilemma

Knuf, M.

Case report: Rapid evolving, severe encephalopathy, caused by nutritive cobalamin deficiency due to subclinical maternal pernicious anemia
Long-term antikoagulation in a neonate with sinovenous thrombosis and stroke. Case presentation and review of the literature

Koch, J.

Uncommon manifestations of childhood neuroborreliosis
Treatment of West syndrome (WS) according to UKISS (United Kindom Infantile Spasms Study): A single centers experience
Pontine tegmental cap dysplasia: Two additional cases
Relevance of functional investigations of the mitochondrial energy metabolism in unfrozen tissue

Koch, S.

Treatment of NPC with miglustat in Germany
Manifestation and diagnosis of NPC disease in Germany

Kohlschmidt, N.

Mutation analysis of the SCN1A gene for suspected Dravet syndrome/GEFS+ – High detection yield, unsatisfactory prognostic value

Kohlschütter, A.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

Kolb, R.

Randomized multicenter trial on patients wit childhood craniopharyngioma (KRANIOPHARYNGEOM 2007) – Update after 12 months of recruitment
Meningiomas in childhood and adolescence – Multicenter cross-sectional study on 42 patients
Analyses of treatment variables for patients with childhood craniopharyngioma – Results of the multicenter prospective trial KRANIOPHARYNGEOM 2000 after three years of follow-up
Xanthogranuloma of the sellar region – Results of a multicenter prospective study on diagnostics, therapy and prognosis in children and adolescents

Kolzter, K.

Patients with Dravet's syndrome and SCN1A-mutation with a benign course of illness – A case report with 6 patients

König, S.

Partial response to the vagus nerve stimulation in twins with double cortex syndrome

Korall, H.

Screening for pyridoxine dependent epilepsy (PDE) by Tandem Mass Spectrometry (HPLC-MS/MS)

Korenke, C.

Treatment of NPC with miglustat in Germany
Clinical long term follow-up of children presenting with a severe acute disseminated encephalomyelitis (ADEM)
Manifestation and diagnosis of NPC disease in Germany

Korinthenberg, R.

Treatment of Duchenne muscular dystrophy with cyclosporin A – A randomized, double-blind, placebo controlled trial
Severe confusion and agitation as predominant symptom of a hemiplegic migraine with mutation in ATP1A2
Wernicke encephalopathy in childhood

Kornak, U.

Intractable seizures in malignant infantile osteopetrosis due to CLCN7 mutation: lysosomal aspects

Körte, I.

Diffusion tensor imaging (DTI) of callosal motor fibers correlates with functional impairment in children with periventricular leukomalacia

Kortmann, R.

Low grade glioma in pediatric NF-1 patients

Kortmann, R. D.

Randomized multicenter trial on patients wit childhood craniopharyngioma (KRANIOPHARYNGEOM 2007) – Update after 12 months of recruitment
Analyses of treatment variables for patients with childhood craniopharyngioma – Results of the multicenter prospective trial KRANIOPHARYNGEOM 2000 after three years of follow-up
Xanthogranuloma of the sellar region – Results of a multicenter prospective study on diagnostics, therapy and prognosis in children and adolescents

Kotzaeridou, U.

Full clinical recovery after acute haemolytic uraemic syndrome (HUS) with basal ganglia involvement and severe dystonia. A case report
Life with only one half of the cerebellum: Outcome in children with severe unilateral cerebellar hypoplasia
Acute motor and sensory axonal neuropathy (AMSAN) in a 7-year-old boy. A cases report
Atypical clinical presentation of a girl with episodic ataxia type II

Kotzot, D.

Cardiac arrest in a patient with glutaric aciduria type II

Krägeloh-Mann, I.

Clinical course of two siblings with Metachromatic Leukodystrophy (MLD) with and without Stem cell transplantation (SCT)
Neurocysticercosis in a 10 year-old boy in Germany
Diagnostic value of magnetic resonance imaging and morphometry of the corpus callosum in children with isolated mental retardation
A new score for assessing white matter changes in metachromatic leukodystrophy
Early determination of somatosensory cortex
Polyneuropathy and hepatopathy as an infantile manifestation of a POLG1 gene defect

Krätzner, R.

The structure of tripeptidyl peptidase I (TPP1) provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis

Kraus, C.

Accessory nipple as key symptom in diagnosis of Mowat-Wilson syndrome

Krause, M.

Deep brain stimulation in children and adolescents with dystonia

Kress, W.

A novel ACTA- 1 mutation in a child with Nemaline Myopathy and reduced acid alpha-glucosidase activity

Kreuder, J.

Severe dilative Cardiomyopathy in mucopolysaccharidosis type 1 (Hurler's Syndrome)

Kribs, A.

Combination of early endotracheal Surfactant and nasal continous positive airwaypressure (CPAP): 15–32-month outcome of extremly low birth weight preterm infants (ELBW)

Krick, C.

Modified memory processes in children with febrile seizures: Analysis of event-related potentials

Krischke, G.

Modulation of vasoactive and cytotrophic factors in developing mouse brain by pharmacological stabilization of hypoxia-inducible transcription factors (HIFs)

Kruse, B.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

Kuczaty, S.

Mutation analysis of the SCN1A gene for suspected Dravet syndrome/GEFS+ – High detection yield, unsatisfactory prognostic value

Kudernatsch, M.

Fast recovery after 5 months in persistent vegetative state

Kuhnke, N.

Does navigated transcranial magnetic stimulation (TMS) decrease the variability of motor evoked potentials (MEP) and increase its reproducibility?

Kunz, W.

Mutation analysis of the SCN1A gene for suspected Dravet syndrome/GEFS+ – High detection yield, unsatisfactory prognostic value
mitoNET – German Network for mitochondrial disorders

Kurlemann, G.

Epilepsy in vitamin B12 deficiency and its treatment in infancy
Isolated inflammation of the optic nerve in childhood as a predictor for multiple sclerosis in future?
Autosomal dominant chin myoclonus
A novel ACTA- 1 mutation in a child with Nemaline Myopathy and reduced acid alpha-glucosidase activity

Kyttällä, A.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship