Natasa Nenadic-Baranasic, Jakob Nemir, Fran Borovecki, Niko Njiric, Ivan Lehman
No abstract text is available yet for this article.
April 9, 2024: Neuropediatrics
Ikko Ohshiro, Tohru Okanishi, Ryo Ohta, Kento Ohta, Yuto Arai, Sotaro Kanai, Ayataka Fujimoto, Yoshihiro Maegaki
INTRODUCTION: Epileptic spasms without hypsarrhythmia occur when patients do not display hypsarrhythmia on EEG at the onset and throughout the clinical course. We report three patients of epileptic spasms in patients with early onset, all of whom experienced other types of seizures. CASE REPORTS: We detail three patients (two boys and one girl) of epileptic spasms without hypsarrhythmia, occurring between one and three months of age, with no abnormalities detected on neurometabolic analysis and brain MRI...
April 2, 2024: Neuropediatrics
Mari Asakura, Masashi Ogasawara, Mizuho Igarashi, Keigo Takeshima, Eri Fukao, Yoji Ikuta
No abstract text is available yet for this article.
March 28, 2024: Neuropediatrics
Maureen Jacob, Melanie Brugger, Stephanie Andres, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Erik Tilch, Martin Pavlov, Katharina Mayerhanser, Julia Hoefele, Thomas Meitinger, Juliane Winkelmann, Theresa Brunet
In patients with neurodevelopmental disorders (NDDs), exome sequencing (ES), the diagnostic gold standard, reveals an underlying monogenic condition in only approximately 40% of cases. 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...
March 28, 2024: Neuropediatrics
Miraç Yıldırım, Gülçin Bilicen Yarenci, Mustafa Berk Genç, Çiğdem İlter Uçar, Secahattin Bayav, Merve Nur Tekin, Ömer Bektaş, Serap Teber
Congenital 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...
March 26, 2024: Neuropediatrics
Aditya Chadda, Pawan Banyal, Anmol Bhatia, Sameer Vyas, Naveen Sankhyan
No abstract text is available yet for this article.
March 22, 2024: Neuropediatrics
Seval Kutlutürk Yıkılmaz, Müberra Tanrıverdi, Sedat Öktem
BACKGROUND: The Pediatric Quality of Life InventoryTM Neuromuscular Module (PedsQLTM 3.0 NM) evaluates the health-related quality of life in children who are affected by neuromuscular diseases. This study's aim is to assess the adaptation of the PedsQLTM 3.0 NM Turkish version (PedsQLTM 3.0 NM-TR) for 2-4 years old in spinal muscular atrophy (SMA). METHODS: The procedure of translating the PedsQLTM 3.0 NM into Turkish was conducted in accordance with the translation methodology outlined by the PedsQLTM measurement model...
March 15, 2024: Neuropediatrics
Niklas Kahl, Natalia Lüsebrink, Susanne Schubert-Bast, Thomas M Freiman, Matthias Kieslich
Foramina 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...
March 6, 2024: Neuropediatrics
Thorsten Gerstner, Oliver Henning, Gro Løhaugen, Jon Skranes
BACKGROUND:  Magnetic resonance imaging in fetal alcohol spectrum disorder (FASD) children showed altered connectivity, suggesting underlying deficits in networks, which may be related to cognitive outcome. Functional connectivity has been of interest in neurophysiological research with quantitative electroencephalography (QEEG) as useful tool for measuring pathology, not detectable by normal EEG. The aim of this study was to investigate differences in the EEG interhemispheric coherence (ICoh) in children diagnosed with FASD compared with healthy controls and to relate the results to cognitive scores...
March 6, 2024: Neuropediatrics
Stefania Kalampokini, Georgia Xiromerisiou, Panagiotis Bargiotas, Violetta Christophidou Anastasiadou, Paul Costeas, Georgios M Hadjigeorgiou
Cyclic 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...
March 5, 2024: Neuropediatrics
Momen Mohammed A Almomen, Patrick Burgon
Congenital Myopathy type 13, also known as Native American Myopathy (NAM), 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 Block described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperthermia reaction; the cause of the latter remains poorly defined in this rare disease...
February 20, 2024: Neuropediatrics
Momen Almomen, Fawzia Amer, Fatima Alfaraj, Patrick G Burgon, Shahid Bashir, Fouad Alghamdi
STAC3-related myopathy, or Native American myopathy (NAM), is a genetically inherited, autosomal recessive muscle disease that was first described in a Native American by Bailey and Bloch in 1987. NAM is characterized by hypotonia, micrognathia, muscle weakness, arthrogryposis, cleft palate, susceptibility to malignant hyperthermia (MH), and myopathic facies. Since the first description of NAM, more cases have been described worldwide, with three cases reported from the Middle East. This study presents a cohort of seven Saudi NAM patients belonging to three families...
February 16, 2024: Neuropediatrics
Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, Rahşan Göçmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. 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...
February 16, 2024: Neuropediatrics
Johannes Gebert, Theresa Brunet, Matias Wagner, Jakob Rath, Susanne Aull-Watschinger, Ekaterina Pataraia, Martin Krenn
Biallelic 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 (c...
February 12, 2024: Neuropediatrics
Malin Zaddach, Johanna Wagner, Mathias Kunz, Marco Paolini, Ingo Borggraefe, Florian Heinen
No abstract text is available yet for this article.
February 5, 2024: Neuropediatrics
Johannes Gebert, Theresa Brunet, Matias Wagner, Jakob Rath, Susanne Aull-Watschinger, Ekaterina Pataraia, Martin Krenn
Biallelic variants in PTRHD1 have been linked to autosomal recessive intellectual disability, spasticity, and juvenile parkinsonism with only a limited number of patients reported so far. Here, we describe the clinical and genetic findings of another female individual of Austrian origin who also experienced infantile neurodevelopmental abnormalities, intellectual disability, and childhood-onset parkinsonian features, all of which are in concordance with the known phenotypic spectrum. In addition, she developed genetic generalized epilepsy around the age of 4 years, persisting into adulthood...
January 29, 2024: Neuropediatrics
Inês Pais-Cunha, Ana I Almeida, Ana R Curval, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa
INTRODUCTION:  Cerebral venous thrombosis (CVT) is a rare but potentially fatal disease in pediatric age with an important morbimortality. In adults several factors have been associated with worse outcomes, however there are still few studies in children. This study aims to identify risk factors associated with clinical manifestations and long-term sequelae in pediatric CVT. METHODS:  Retrospective analysis of pediatric inpatients admitted to a tertiary-care hospital due to CVT between 2008 and 2020...
January 24, 2024: Neuropediatrics
Rui-di Sun, Jun Jiang, Xiao-Long Deng
OBJECTIVE:  The risk factors for respiratory insufficiency in children with Guillain-Barré syndrome (GBS) are poorly known. This study aimed to investigate the factors associated with respiratory insufficiency in children with GBS. METHODS:  This retrospective study included children diagnosed with GBS by pediatric neurologists and admitted at the Wuhan Children's Hospital and other hospitals from January 2013 to October 2022. The patients were divided into the respiratory insufficiency and nonrespiratory insufficiency groups according to whether they received assist breathing during treatment...
January 22, 2024: Neuropediatrics
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi
PGAP2 gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric PGAP2 -mutated case, intending to further expand the clinical phenotype of the syndrome and to report our experience on a therapeutic approach to drug-resistant epilepsy.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...
April 2024: Neuropediatrics
Roberto Tedeschi
Cerebral palsy (CP) is a chronic neurological disorder that can cause motor and cognitive disabilities. Mindfulness is a form of meditation that has gained attention as a potential therapeutic intervention for improving the health and well-being of patients with CP. Four databases were searched until January 2023. A scoping review was conducted to explore the role of mindfulness in the management of CP by reviewing the available scientific literature. Studies that examined the effects of mindfulness on motor function, communication, and quality of life in patients with CP were analyzed...
April 2024: Neuropediatrics
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