Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration
Neuropediatrics DOI: 10.1055/s-0044-1785513 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 9, 2024 Category: Neurology Authors: Nenadic-Baranasic, Natasa Nemir, Jakob Borovecki, Fran Njiric, Niko Lehman, Ivan Tags: Videos and Images in Neuropediatrics Source Type: research
Reliability and Validity of the Turkish Translation of the PedsQL ™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy
Conclusion This study established the PedsQL™ 3.0 NM-TR as reliable, valid, and feasible for use in children aged 2 to 4 years with SMA. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 8, 2024 Category: Neurology Authors: Kutlut ürk Yıkılmaz, Seval Tanr ıverdi, Müberra Öktem, Sedat Tags: Original Article Source Type: research
Pediatric Tolosa –Hunt Syndrome with Ptosis and Transient Periorbital Headache
Neuropediatrics DOI: 10.1055/s-0044-1782681 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 28, 2024 Category: Neurology Authors: Asakura, Mari Ogasawara, Masashi Igarashi, Mizuho Takeshima, Keigo Fukao, Eri Ikuta, Yoji Tags: Videos and Images in Neuropediatrics Source Type: research
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
We report the case of a female patient with profound NDD who died 30 years ago at the age of 3 years and for whom genome sequencing (GS) now identified a single-exon deletion in TBCK previously missed by ExomeDepth, the copy number variation (CNV) detection algorithm in ES.Deoxyribonucleic acid (DNA) was extracted from frozen muscle tissue of the index patient and the parents' blood. Genome data were analyzed for structural variants and single nucleotide variants (SUVs)/indels as part of the Bavarian Genomes consortium project.Biallelic variants in TBCK, which are linked to the autosomal recessive disorder TBCK syndrome, w...
Source: Neuropediatrics - March 28, 2024 Category: Neurology Authors: Jacob, Maureen Brugger, Melanie Andres, Stephanie Wagner, Matias Graf, Elisabeth Berutti, Riccardo Tilch, Erik Pavlov, Martin Mayerhanser, Katharina Hoefele, Julia Meitinger, Thomas Winkelmann, Juliane Brunet, Theresa Tags: Short Communication Source Type: research
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
Neuropediatrics DOI: 10.1055/s-0044-1782675Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imag...
Source: Neuropediatrics - March 26, 2024 Category: Neurology Authors: Y ıldırım, Miraç Yarenci, G ülçin Bilicen Gen ç, Mustafa Berk U çar, Çiğdem İlter Bayav, Secahattin Tekin, Merve Nur Bekta ş, Ömer Teber, Serap Tags: Short Communication Source Type: research
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases
Neuropediatrics DOI: 10.1055/a-2281-1822Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of chorea in children led to the recognition of an emerging role of PDEs in the field of pediatric movement disorders. A comprehensive literature review of all reported cases o...
Source: Neuropediatrics - March 26, 2024 Category: Neurology Authors: Kalampokini, Stefania Xiromerisiou, Georgia Bargiotas, Panagiotis Anastasiadou, Violetta Christophidou Costeas, Paul Hadjigeorgiou, Georgios M. Tags: Review Article Source Type: research
Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
Neuropediatrics DOI: 10.1055/a-2271-8619Congenital myopathy type 13 (CMYO13), also known as Native American myopathy, is a rare muscle disease characterized by early-onset hypotonia, muscle weakness, delayed motor milestones, and susceptibility to malignant hyperthermia. The phenotypic spectrum of congenital myopathy type 13 is expanding, with milder forms reported in non-native American patients. The first description of the disease dates to 1987 when Bailey and Bloch described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperther...
Source: Neuropediatrics - March 26, 2024 Category: Neurology Authors: Almomen, Momen Burgon, Patrick G. Tags: Review Article Source Type: research
Thanks to Reviewers and Authors
Neuropediatrics 2024; 55: 075-076 DOI: 10.1055/s-0044-1779728 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 14, 2024 Category: Neurology Authors: Borggraefe, Ingo Tags: Editorial Source Type: research
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review
Neuropediatrics DOI: 10.1055/s-0044-1781465Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on either side of the skull, which are caused by insufficient ossification during embryogenesis. These openings are typically abnormally large and can range from a few millimeters to several centimeters in diameter. Enlarged foramina are often discovered incidentally during anatomical or radiological examinations and in most cases left untreated unless symptoms develop. Although this calvarial defect is usually asymptomat...
Source: Neuropediatrics - March 6, 2024 Category: Neurology Authors: Kahl, Niklas L üsebrink, Natalia Schubert-Bast, Susanne Freiman, Thomas M. Kieslich, Matthias Tags: Short Communication Source Type: research
Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD) —A Quantitative EEG Study
Conclusion Our findings could imply hypoconnectivity between the hemispheres with impact on cognition. We suggest that EEG coherence analysis could be a sensitive parameter in the detection of electrophysiological abnormalities in FASD with possible clinical relevance. These results may indicate that QEEG could be used as biomarker for FASD. However, further research is needed to determine the role of QEEG analysis in the diagnosis of FASD. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 6, 2024 Category: Neurology Authors: Gerstner, Thorsten Henning, Oliver L øhaugen, Gro Skranes, Jon Tags: Original Article Source Type: research
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
We present the clinical, neuroradiological, and genetic characterization of a Caucasian pediatric subject with biallelic pathogenic variants in the PGAP2 gene revealed by next generation sequencing analysis.We identified a subject who presented with global developmental delay and visual impairment. Brain magnetic resonance imaging showed mild hypoplasia of the inferior cerebellar vermis and corpus callosum and mild white matter reduction. Laboratory investigations detected an increase in alkaline phosphatase. At the age of 13 months, he began to present epileptic focal seizures with impaired awareness, which did not respon...
Source: Neuropediatrics - February 16, 2024 Category: Neurology Authors: Saracino, Annalisa Totaro, Martina Politano, Davide DE Giorgis, Valentina Gana, Simone Papalia, Grazia Pichiecchio, Anna Plumari, Massimo Rognone, Elisa Varesio, Costanza Orcesi, Simona Tags: Short Communications Source Type: research
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients
This study presents a cohort of seven Saudi NAM patients belonging to three families. To our knowledge, this cohort is the largest to be reported in the Arabian Peninsula and the Middle Eastern region. We will also highlight the importance of considering this MH-causing disease preoperatively in myopathic children with cleft palate in areas where NAM has been described. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 16, 2024 Category: Neurology Authors: Almomen, Momen Amer, Fawzia Alfaraj, Fatima Burgon, Patrick G. Bashir, Shahid Alghamdi, Fouad Tags: Short Communication Source Type: research
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7–25) years, with the most common ...
Source: Neuropediatrics - February 16, 2024 Category: Neurology Authors: Öz Yıldız, Sibel Yaln ızoğlu, Dilek Şimsek Kiper, Pelin Özlem G öçmen, Rahşan So ğukpınar, Merve Utine, G ülen Eda Halilo ğlu, Göknur Tags: Review Article Source Type: research
Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity
Conclusion Small-vessel CNS vasculitis can occur simultaneously to other autoimmune diseases (ADs) in the scope of polyautoimmunity. As clinical findings of CNS vasculitis are often unspecific, neurological symptoms in nonneurological ADs should be adressed thoroughly. Under suspicion of small-vessel CNS vasculitis brain biopsy is still the gold standard and only secure way of definitive diagnosis. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 16, 2024 Category: Neurology Authors: Grinstein, Lev Hecher, Laura Weiss, Deike Johannsen, Jessika Denecke, Jonas Tags: Original Article Source Type: research
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism
Neuropediatrics DOI: 10.1055/a-2256-0722Biallelic variants in PTRHD1 have been associated with autosomal recessive intellectual disability, spasticity, and juvenile Parkinsonism, with few reported cases. Here, we present the clinical and genetic findings of a female of Austrian origin exhibiting infantile neurodevelopmental abnormalities, intellectual disability, and childhood-onset parkinsonian features, consistent with the established phenotypic spectrum. Notably, she developed genetic generalized epilepsy at age 4, persisting into adulthood. Using diagnostic exome sequencing, we identified a homozygous missense variant ...
Source: Neuropediatrics - February 14, 2024 Category: Neurology Authors: Gebert, Johannes Brunet, Theresa Wagner, Matias Rath, Jakob Aull-Watschinger, Susanne Pataraia, Ekaterina Krenn, Martin Tags: Short Communication Source Type: research
