RANBP2 Mutation Mimicking Viral Encephalitis
Neuropediatrics DOI: 10.1055/a-1816-8605 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: Averdunk, Luisa Klee, Dirk Wieczorek, Dagmar Haack, Tobias B. Distelmaier, Felix Tags: Videos and Images in Neuropediatrics Source Type: research
Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome
This report highlights the importance of counseling patient families regarding acute paroxysmal presentations in this syndrome. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: Sen, Kuntal Genser, Ilyse DiFazio, Marc DiSabella, Marc Tags: Short Communication Source Type: research
Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV —Enzyme Replacement Therapy: A Case Report
Neuropediatrics DOI: 10.1055/s-0042-1750729The 12 years old male patient presented here suffers from neuronal ceroid lipofuscinoses 2 (CLN2) (MIM# 204500) and receives intracerebroventricular enzyme replacement therapy (ICV-ERT) every 14 days. After the emergence of the coronavirus disease 2019 (COVID-19) pandemic, routine care of children and adolescents with rare chronic diseases has become challenging. Although, in general, children do not develop severe COVID-19, when severe acute respiratory syndrome coronavirus 2infection was detected by polymerase chain reaction-screening examination in our CLN2 patient before hospi...
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: Schwering, Christoph Apostolidou, Sofia Deindl, Philipp Christner, Martin Knobloch, Johannes K.-M. Herrmann, Jochen Kobbe, Robin Schulz, Angela Singer, Dominique Ebenebe, Chinedu Ulrich Tags: Short Communication Source Type: research
The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital
Neuropediatrics DOI: 10.1055/a-1816-8746Screening studies have shown detection of optic pathway gliomas (OPGs) in 8 to 31% of children with neurofibromatosis type 1 (NF1). Many of those affected show prolonged indolent phases, but others develop vision disturbances even before diagnosis and treatment. We assessed the clinical presentation at diagnosis, location, natural progression, and risk factors for impaired vision of OPG. The clinical database of the NF1 multidisciplinary clinic of Schneider Children's Medical Center of Israel was reviewed for all patients diagnosed and followed with NF1 during 2007 to 2019. OPG was d...
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: Rony, Cohen Aharoni, Sharon Halevy, Ayelet Tags: Short Communication Source Type: research
Successful Rituximab Therapy for Pediatric Antiphospholipid-Related Chorea: A Case Report and Review of the Literature
We present a case of a therapy-resistant chorea, successfully treated with rituximab. Furthermore, we give an overview of the existing literature concerning rituximab for the treatment of chorea in children. Our findings indicate that rituximab can be considered a safe option to treat antiphospholipid syndrome-related chorea in children. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: D'hont, Alexia De Wachter, Matthias Driesen, Yentl Sabato, Vito Joos, Rik Ceulemans, Berten Tags: Short Communication Source Type: research
The Incidence of Intraventricular Hemorrhage in Low-Birth-Weight Infants: Assessment by Magnetic Resonance Imaging
Conclusion We were able to clarify the frequency of IVH in LBW infants using MRI at TEA. We demonstrated the lower incidence of mortality and IVH, the higher incidence of a favorable outcome, and the lower incidence of poor outcome. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: Hayakawa, Katsumi Tanda, Koichi Nishimoto, Masakazu Nishimura, Akira Kinoshita, Daisuke Sano, Yuko Tags: Original Article Source Type: research
Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome
Neuropediatrics DOI: 10.1055/s-0042-1750728 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 17, 2022 Category: Neurology Authors: Chang, Min Cheol Tags: Letter to the Editor Source Type: research
Clinical Findings on Chromosome 1 Copy Number Variations
This study reinforces the association between chromosome 1 CNV and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 14, 2022 Category: Neurology Authors: Leit ão, Filipa Grangeia, Ana Pinto, Joel Passas, Armanda D ória, Sofia Tags: Original Article Source Type: research
MOG Antibody Disease Presenting as Multiphasic Disseminated Encephalomyelitis
Neuropediatrics DOI: 10.1055/a-1784-0219 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 24, 2022 Category: Neurology Authors: Nguyen, Khanh Bazylewicz, Michael P. Soares, Bruno P. Tags: Videos and Images in Neuropediatrics Source Type: research
Post-CMV Guillain-Barr é Syndrome with Anti-GM2 Antibodies: Two Cases and a Review of the Literature
Conclusion Post-CMV GBS with anti-GM2 IgM is a specific clinical spectrum that seems to affect children as it affects adults with a predominance among females, demyelination, and severe motor involvement, but a good prognosis. On the other hand, unlike adults, the use of assisted ventilation does not seem to be more frequent. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 18, 2022 Category: Neurology Authors: Manaud, Alice Geraudie, Amandine Viguier, Agn ès Mengelle, Catherine Fortenfant, Fran çoise Baudou, Elo ïse Cheuret, Emmanuel Tags: Original Article Source Type: research
Children with Vision Impairment
Neuropediatrics DOI: 10.1055/s-0042-1747642 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 18, 2022 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research
Selected Abstracts of the 48th Annual Meeting of the SENP (Soci été Européenne de Neurologie Pédiatrique)
Neuropediatrics 2022; 53: 001-001 DOI: 10.1055/s-0042-1745760 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 17, 2022 Category: Neurology Authors: Korff, Christian M. Tags: Editorial Source Type: research
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population
Conclusion Taking NCV values between 25 and 45 m/s to define an intermediate group of CMT in children leads to the inclusion of non-typically “intermediate”, especially CMT1A. We emphasize the broad spectrum of NCV in CMT1A that justified the systematic search of PMP22 duplication/deletion screening before next generation sequencing panel. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 16, 2022 Category: Neurology Authors: Baudou, Elo ïse Cances, Claude Magdelaine, Corinne Latour, Philippe Louvier, Ulrike Walther Juntas-morales, Raul Cintas, Pascal Rivier, Fran çois Tags: Original Article Source Type: research
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Neuropediatrics 2022; S 01 Article in Thieme eJournals: Table of contents | Congress (Source: Neuropediatrics)
Source: Neuropediatrics - March 16, 2022 Category: Neurology Source Type: research
Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant
Neuropediatrics DOI: 10.1055/s-0042-1744159 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 9, 2022 Category: Neurology Authors: Depierreux, Fr édérique Alkan, Serpil Tags: Video and Image in Neuropediatrics Source Type: research
