“Leukodystrophy-Like” Phenotype in Anti-MOG Antibody-Associated Disorders
Neuropediatrics DOI: 10.1055/a-1740-9649 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2022 Category: Neurology Authors: Ortiz de Zarate, Zuri ñe Felipe-Ruci án, Ana S ánchez-Montáñez, Ángel Armangu é, Thais G ómez-Andrés, David Tags: Videos and Images in Neuropediatrics Source Type: research
‘Leukodystrophy-Like’ Phenotype in anti-MOG antibody-associated disorders
Neuropediatrics DOI: 10.1055/a-1740-9649 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2022 Category: Neurology Authors: Ortiz de Zarate Caballero, Zuri ñe Felipe-Ruci án, Ana S ánchez-Montáñez, Ángel Armangu é, Thais Gom éz-Andrés, David Tags: Videos and Images in Neuropediatrics Source Type: research
Early-onset vascular leukoencephalopathy caused by bi-allelic NOTCH3 variants
This study indicates that bi-allelic loss-of-function NOTCH3 variants may cause a vascular leukoencephalopathy, distinct from CADASIL. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract (Source: Neuropediatrics)
Source: Neuropediatrics - January 13, 2022 Category: Neurology Authors: Stellingwerff, Menno Nulton, Corinne Helman, Guy Roosendaal, Stefan Benko, William Pizzino, Amy Bugiani, Marianna Vanderver, Adeline Simons, Cas van der Knaap, Marjo Tags: Original Article Source Type: research
Recurrent Isolated Sixth Nerve Palsy in Childhood —Review on a Rare Phenomenon
Neuropediatrics DOI: 10.1055/s-0041-1741385Sixth nerve palsy is an ominous sign in pediatric neurology. Due to the long and tortuous course of the sixth (abducens) nerve, it is generally considered a sign of intracranial pathology. Sixth nerve palsy is associated with increased intracranial pressure and neoplasms, among other less frequent causes. In ∼5 to 15% of cases, no cause can be identified. These cases are classified as idiopathic or “benign” and recovery is typically complete. A recurrence of symptoms is very rare. We provide a rare case report of recurrent benign sixth nerve palsy in a 5-year-old child. In a...
Source: Neuropediatrics - January 6, 2022 Category: Neurology Authors: Kingma, Sandra D. K. Ceulemans, Berten Tags: Review Article Source Type: research
Hypercapnia: An Added Culprit in Gray Matter Injury in Preterm Neonates
In conclusion, our data show a correlation between early hypercapnia in preterm neonates and GMI at TEA. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 4, 2022 Category: Neurology Authors: Kasirer, Yair David, Eliel Ben Hammerman, Cathy Shchors, Irina Nun, Alona Bin Tags: Original Article Source Type: research
Hypercapnia: A Potential Culprit in Gray Matter Injury in Preterm Neonates?
In conclusion, our data show a correlation between early hypercapnia in preterm neonates and GMI at term equivalent age. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract (Source: Neuropediatrics)
Source: Neuropediatrics - January 4, 2022 Category: Neurology Authors: Bin Nun, Alona Ben David, Eliel Hammerman, Cathy Shchors, Irina Kasirer, Yair Tags: Original Article Source Type: research
Epilepsy and Sleep in the ATR-X Syndrome
Conclusion One-third of participants with ATR-X syndrome had a clinical diagnosis of epilepsy, but the absence of EEG abnormalities in suspected epileptic seizures questions this diagnosis in these patients. EEG recording during seizure like symptoms is warranted before making an epilepsy diagnosis. Seventy percent experienced sleep problems, although total sleep time was normal in most participants. Long bedtimes might have a negative influence on sleep efficiency. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (S...
Source: Neuropediatrics - December 21, 2021 Category: Neurology Authors: Mierlo, Petra van Braakman, Hilde Vandenbussche, Nele Schelhaas, Helenius Jurgen Pillen, Sigrid Tags: Original Article Source Type: research
Test –Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (GOAL) Questionnaire for Children with Ambulatory Cerebral Palsy
Neuropediatrics DOI: 10.1055/s-0040-1722688The Gait Outcome Assessment List (GOAL) is a patient or caregiver-reported assessment of gait-related function across different domains of the International Classification of Functioning, Disability, and Health (ICF) developed for ambulant children with cerebral palsy (CP). So far, the questionnaire is only available in English. The aim of this study was to translate the GOAL into German and to evaluate its reliability and validity by studying the association between GOAL scores and gross motor function as categorized by the gross motor function classification system (GMFCS) in ch...
Source: Neuropediatrics - December 21, 2021 Category: Neurology Authors: Bonfert, Michaela V. Jelesch, Evelyn Hartmann, Julia Koenig, Helene Warken, Birgit Meuche, Anne Jung, Nicolai H. Bernius, Peter Weinberger, Raphael Sorg, Anna Lisa von Kries, R üdiger Narayanan, Unni G. Hoesl, Matthias Berweck, Steffen Schroeder, A. Seba Tags: Original Article Source Type: research
Stiff Person Syndrome and Encephalitis with GAD Antibodies with Severe Anterograde Amnesia in an Adolescent: A Case Study and Literature Review
Neuropediatrics DOI: 10.1055/s-0041-1739134Antiglutamic acid decarboxylase (GAD65) encephalitis is rare and few pediatric cases have been reported, with variable clinical presentations. A 14-year-old female adolescent was managed in our department. She had been treated for several months for drug-resistant temporal lobe epilepsy and gradually presented major anterograde amnesia with confusion. Upon her arrival at the University Hospital Centre, she showed a classical form of stiff person syndrome. The brain magnetic resonance imaging showed bitemporal hyperintensities and hypertrophy of the amygdala. The blood and cerebros...
Source: Neuropediatrics - December 14, 2021 Category: Neurology Authors: Herbulot, L éa Bost, Chlo é Viguier, Agn ès Faure-Marie, Nathalie Baudou, Elo ïse Cheuret, Emmanuel Tags: Short Communication Source Type: research
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option
Neuropediatrics DOI: 10.1055/s-0041-1740549Neurofibromatosis type-1 (NF1)-associated plexiform neurofibromas (PN) are peripheral nerve sheath tumors that can significantly affect the quality of life. Until recently, surgery was the only treatment for these tumors. However, in most cases, surgery cannot achieve complete tumor removal and carries a high risk of postoperative deficits. Therefore, the recent approval of the MEK inhibitor selumetinib for the treatment of NF1-associated PN provides a long-awaited novel therapeutic option. Here, we report our experience with MEK inhibitor treatment in 12 pediatric NF1 patients wi...
Source: Neuropediatrics - December 14, 2021 Category: Neurology Authors: Vaassen, Pia D ürr, Nikola Reinhard Rosenbaum, Thorsten Tags: Original Article Source Type: research
Headache in Children and Adolescents: The Association between Screen Time and Headache within a Clinical Headache Population
Conclusion In this study, we investigated the association between screen time and headache in children and adolescents. More screen time was associated with more frequent headaches in children with migraine with aura. Future prospective studies are needed to determine the causality of this association. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 14, 2021 Category: Neurology Authors: Lund, Josefine Berring-Uldum, Amalie Colak, Merve Debes, Nanette Marinette Monique Tags: Original Article Source Type: research
The Largest Germline Heterozygous Deletion Encompassing Potocki –Shaffer and WAGR Syndromes Loci to Date: A Case Report
We describe here a 9-month-old girl harboring the largest germline heterozygous deletion characterized so far. Oligohydramnios and parietal foramina were noticed during pregnancy. No patient has been diagnosed before with concomitance of these two syndromes during the prenatal period. Cytogenetic diagnosis was anticipated on basis of clinical and radiological signs. Postnatal conventional karyotype confirmed an interstitial 11p deletion: 46,XX,del(11)(p11.2p15.1). Array-comparative genomic hybridization characterized a 29.6 Mb deletion. Our case illustrates the interest of high-resolution genomic approaches to correlate ad...
Source: Neuropediatrics - December 8, 2021 Category: Neurology Authors: Delplancq, Geoffroy Boukebir, Mohamed Abdelatif Amsallem, Daniel Thines, Laurent Roz é, Virginie Dahlen, Eric Van Maldergem, Lionel Kuentz, Paul Tags: Short Communication Source Type: research
A Child Presenting with a Glasgow Coma Scale Score of 13: Mild or Moderate Traumatic Brain Injury? A Narrative Review
Conclusion We advocate classifying children with GCS 13 as moderate TBI and treat them accordingly. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 8, 2021 Category: Neurology Authors: Hageman, Gerard Nihom, Jik Tags: Review Article Source Type: research
Validity and Reliability of the German Version of the CP QOL-Child and CP QOL-Teen Questionnaire
Neuropediatrics DOI: 10.1055/s-0041-1740377The aim of the study was to determine the psychometric properties of the German version of the Cerebral Palsy Quality of Life Questionnaire for Children and Adolescents (CP QOL-Child and -Teen). It is a condition-specific questionnaire with a self-report version, measuring well-being rather than ill-being, which differs from existing measurement methods. Fourteen children (9–12 years) and 64 caregivers (4–12 years) answered the child questionnaire. Twenty-one adolescents and 26 caregivers (all adolescents 13–18 years) replied to the teen version. Functioning was categorized ...
Source: Neuropediatrics - December 8, 2021 Category: Neurology Authors: Maier, Manuel Stoltenburg, Corinna Sarpong-Bengelsdorf, Akosua Lebek, Susanne Tags: Original Article Source Type: research
Rate of Anti-NMDA Receptor Encephalitis in Ovarian Teratomas
Conclusion The rate of NMDARE in ovarian teratomas is low and NMDARE patients have smaller teratomas than non-NMDARE. Further studies are needed to understand the timing of anti-NMDA receptor antibodies in teratomas and the development of NMDARE. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 6, 2021 Category: Neurology Authors: Li, Jennifer H. Milla, Sarah S. Gombolay, Grace Y. Tags: Short Communication Source Type: research
