Palatal Tremor in a 16-Year-Old Female
Neuropediatrics DOI: 10.1055/s-0040-1721687 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 20, 2021 Category: Neurology Authors: Al-Sibahee, Essam Magdal, Haqi Tags: Video in Neuropediatrics Source Type: research
Cerebral Toxocariasis as a Cause of Epilepsy: A Pediatric Case
Neuropediatrics DOI: 10.1055/s-0040-1721701Toxocarosis is the consequence of human infection by Toxocara spp. larvae and is one of the most common ascarioses, not only in developing countries, but also in the European region, where its prevalence reaches 14%. Due to their particular behavior, children are at higher risk of this parasitic infection, whose clinical features depend on the localization of the Toxocara larvae. Neurotoxocariasis is very uncommon in children and may take different forms depending on the underlying physiopathologic process: immune reaction against the parasite antigens, vasculitis, treatment compl...
Source: Neuropediatrics - January 20, 2021 Category: Neurology Authors: Bossi, Grazia Bruno, Raffaele Novati, Stefano Maserati, Roberta Mussati, Georgia Gorone, Mariasole Prevedoni Nepita, Edoardo Vecchio Regalbuto, Corrado Gola, Gioia Simoncelli, Anna Maria Bruno, Antonella Musso, Paola Clerici, Edoardo Marseglia, Gian Luigi Tags: Short Communication Source Type: research
Myasthenia in Children
Neuropediatrics DOI: 10.1055/s-0040-1713674 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 20, 2021 Category: Neurology Authors: M üller-Felber, Wolfgang Tags: Book Review Source Type: research
Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies
Neuropediatrics DOI: 10.1055/s-0040-1722675 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Barrea, Christophe Depierreux, Frederique Tags: Videos and Images in Neuropediatrics Source Type: research
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death
We report on a previously healthy 3-year-old boy who was initially admitted under the suspicion of a febrile seizure during an upper airway infection. Diagnostic workup revealed hypoglycemia as well as a cerebral edema and ruled out an infection. After a complicated course with difficult to treat symptomatic seizures, the child died on the 5th day of admission due to progressive cerebral edema. The metabolic screening showed elevated urinary lactate and Krebs cycle intermediates in line with a primary or secondary energy deficit. Due to the unclear and fatal course, trio exome sequencing was initiated postmortem (“molecu...
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Becker, Johanna Haas, Nikolaus A. Vlaho, Stefan Heineking, Beatrice Wortmann, Saskia B. Rabenhorst, Doroth ée Thomas, Clara Brunet, Theresa Tags: Short Communication Source Type: research
Clinical Conundrums When Integrating the QbTest into a Standard ADHD Assessment of Children and Young People
This article aims to address these clinical conundrums in aid of developing a consistent approach and future guidelines in clinical practice. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Vogt, Carsten Tags: Review Article Source Type: research
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features
We describe two novel missense variants in CACNA1A segregating in a family with variable severity of ataxia/oculomotor dysfunction, neurobehavioral impairments, and epilepsy. The most severe outcome occurred in a compound heterozygous proband, which could represent variable expression of the paternal allele or biallelic modulation of calcium channel function. Acetazolamide and lamotrigine were effective for seizure control. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Ko, Pin-Yi Glass, Ian A. Crandall, Suzanne Weiss, Avery Dorschner, Michael O. Kelly, John P. Phillips, James O. Lopez, Jonathan Tags: Original Article Source Type: research
Tonic Tics in Gilles de la Tourette Syndrome
Conclusion TTs belong to the tic spectrum, common and early symptoms of GTS, are associated with overall a greater number of tics which are more severe, and with more comorbidities. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Kaczy ńska, Justyna Janik, Piotr Tags: Original Article Source Type: research
Hepatic Involvement in Aicardi-Gouti ères Syndrome
In conclusion, all genotypes of AGS are associated with transient elevations of liver enzymes and the presence of liver-associated autoantibodies. This adds to our growing understanding of the systemic pathology AGS. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Gavazzi, Francesco Cross, Zachary M. Woidill, Sarah McMann, Joseph M. Rand, Elizabeth B. Takanohashi, Asako Ulrick, Nicole Shults, Justine Vanderver, Adeline L. Adang, Laura Tags: Original Article Source Type: research
Neurocutaneous Melanosis: Prenatal Presentation as a Posterior Fossa Cyst
Neuropediatrics DOI: 10.1055/s-0040-1722676 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: East, James E. Soares, Bruno P. Tags: Images in Neuropediatrics Source Type: research
Participation: Optimising Outcomes in Childhood-Onset Neurodisability (Clinics in Developmental Medicine)
Neuropediatrics DOI: 10.1055/s-0040-1721830 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2021 Category: Neurology Authors: Kuenzle, Christoph Tags: Book Review Source Type: research
The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family
We report here on a novel heterozygous frameshift variant in the MBD5 gene [c.2579del; p.(Lys860Argfs*11)] in a family in which the typical signs associated with pathogenic variants were expressed with different degrees of severity in the clinical presentation of the carrier individuals.Our findings, adding a novel mutation to the mutational spectrum, further support the relevance of the MBD5 gene as one of the main molecular mechanisms involved in the pathogenesis of intellectual disability and contribute to the characterization of the genotype–phenotype correlations. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 704...
Source: Neuropediatrics - December 29, 2020 Category: Neurology Authors: Orrico, Alfredo Galli, Lucia Rossi, Maja Cortesi, Ambra Mazzi, Marta Caterino, Ettore Tags: Short Communication Source Type: research
Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias
Conclusion ADCY5 mutations should be considered among the differential diagnoses of early-onset paroxysmal choreic–athetosic–myoclonic–dystonic movement disorder involving limbs, trunk, and face, in patients with global neurological impairment with hypotonia and developmental delay. Facial dyskinesias and exacerbation by drowsiness/sleep and emotional stimuli are important clues that may allow a timely recognition of the disorder and avoidance of unnecessary diagnostic investigations. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abst...
Source: Neuropediatrics - December 29, 2020 Category: Neurology Authors: Nosadini, Margherita D'Onofrio, Gianluca Pelizza, Maria Federica Luisi, Concetta Padrin, Davide Baggio, Laura Zorzi, Giovanna Simonetta Toldo, Irene Sartori, Stefano Tags: Short Communication Source Type: research
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease
Neuropediatrics DOI: 10.1055/s-0040-1715625Pur-α protein (PURA) syndrome manifests in early childhood with core features such as neurodevelopmental and speech delay, feeding difficulties, epilepsy, and hypotonia at birth. We identified three cases with PURA syndrome in a cohort of patients with unexplained muscular weakness, presenting with a predominantly neuromuscular and ataxic phenotype. We further characterize the clinical presentation of PURA syndrome including myopathic facies and muscular weakness as the main clinical symptoms in combination with elevated serum creatine kinase levels. Furthermore, we report two no...
Source: Neuropediatrics - December 22, 2020 Category: Neurology Authors: Mroczek, Magdalena Zafeiriou, Dimitrios Gurgel-Gianetti, Juliana Vilela Morais de Azevedo, Beatriz Roos, Andreas Bartels, Enrika Kohlschmidt, Nicolai Phadke, Rahul Feng, Lucy Duff, Jennifer T öpf, Ana Straub, Volker Tags: Short Communication Source Type: research
PredictMed: A Machine Learning Model for Identifying Risk Factors of Neuromuscular Hip Dysplasia: A Multicenter Descriptive Study
Neuropediatrics DOI: 10.1055/s-0040-1721703Neuromuscular hip dysplasia (NHD) is a common and severe problem in patients with cerebral palsy (CP). Previous studies have so far identified only spasticity (SP) and high levels of Gross Motor Function Classification System as factors associated with NHD. The aim of this study is to develop a machine learning model to identify additional risk factors of NHD. This was a cross-sectional multicenter descriptive study of 102 teenagers with CP (60 males, 42 females; 60 inpatients, 42 outpatients; mean age 16.5 ± 1.2 years, range 12–18 years). Data on etiology, diagnosis, SP, e...
Source: Neuropediatrics - December 22, 2020 Category: Neurology Authors: Bertoncelli, Carlo M. Altamura, Paola Bertoncelli, Domenico Rampal, Virginie Vieira, Edgar Ramos Solla, Federico Tags: Original Article Source Type: research
