keyword
https://read.qxmd.com/read/38167978/good-outcome-of-resective-epilepsy-surgery-in-a-one-year-old-child-with-drug-resistant-focal-epilepsy-with-a-novel-pathogenic-col4a1-mutation
#21
JOURNAL ARTICLE
Nicholas Fearns, Matias Wagner, Ingo Borggräfe, Mathias Kunz, Jan Rémi, Christian Vollmar
Pathogenic variants in COL4A1, encoding the alpha chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical development, thereby causing structural epilepsy. This case illustrates successful resective epilepsy surgery in a 12-month-old girl with left occipital focal cortical dysplasia (FCD) associated with a heterozygous splice-donor variant in COL4A1. She presented with drug-resistant focal epilepsy with daily seizures from the age of 2 months, refractory to several combinations of antiseizure medications, as well as mild right-sided hemiparesis and developmental delay...
January 2, 2024: Neuropediatrics
https://read.qxmd.com/read/38158208/psychomotor-and-cognitive-outcome-in-very-preterm-infants-in-vorarlberg-austria-2007-2019
#22
Fabio Jenni, Karin Konzett, Stefanie Gang, Verena Maria Sparr, Burkhard Simma
AIM: To analyze neurodevelopmental outcome of very and extremely preterm infants in Vorarlberg, Austria, accessed with neurodevelopmental testing, at the corrected age of 24 months. Also, to compare these results with (inter)national data and to analyze the impact of perinatal parameters. METHODS: Population-based, retrospective multi-centre study with data on very and extremely preterm infants born in Vorarlberg from 2007 - 2019, assessed with Bayley Scales of Infant Development (BSID-II/Bayley-III)...
December 29, 2023: Neuropediatrics
https://read.qxmd.com/read/38122810/evaluation-of-neurodevelopmental-screening-test-scores-in-children-with-vitamin-b12-deficiency
#23
JOURNAL ARTICLE
Ceren Tanc, Ismail Yildiz
INTRODUCTION:  Vitamin B12 deficiency can lead to hematological findings, neurological symptoms, and neurodevelopmental delay. The aim of this study was to investigate the impact of vitamin B12 deficiency on the neurodevelopment of children. MATERIALS AND METHODS:  This study included 89 children aged between 6 and 24 months without any complaints; 44 of these were evaluated in the study group (serum vitamin B12 <300 pg/mL) and 45 in the control group (serum vitamin B12 ≥300 pg/mL)...
December 20, 2023: Neuropediatrics
https://read.qxmd.com/read/38122809/effectiveness-of-neuropediatric-inpatient-rehabilitation
#24
JOURNAL ARTICLE
Hannah Stadler, Kristina Müller, Gerhard Kurlemann, Michael Lendt
AIM:  Inpatient rehabilitation plays an important role in treating neurological diseases in children and adolescents. However, there is a lack of current research concerning this matter. This retrospective study aims to analyze the effectiveness of neuropediatric inpatient rehabilitation, to identify influencing factors, and to examine the importance of inpatient rehabilitation programs. METHODS:  We reviewed medical records of patients, diagnosed with cerebral palsy, traumatic brain injury (TBI), or stroke who had an inpatient rehabilitation at the Department of Neuropediatrics of St...
December 20, 2023: Neuropediatrics
https://read.qxmd.com/read/38057147/cerebral-venous-thrombosis-in-pediatric-age-risk-factors-and-prognosis
#25
JOURNAL ARTICLE
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
https://read.qxmd.com/read/38046586/rapid-and-inexpensive-bedside-diagnosis-of-ran-binding-protein-2-associated-acute-necrotizing-encephalopathy
#26
JOURNAL ARTICLE
Benoît Gouy, Adrien Decorsière, Sophie Desgraupes, Wenming Duan, Hong Ouyang, Yifan E Wang, E Ann Yeh, Alexander F Palazzo, Theo J Moraes, Sébastien Nisole, Nathalie J Arhel
UNLABELLED: Acute necrotizing encephalopathy 1 (ANE1) is a very rare disorder associated with a dominant heterozygous mutation in the RANBP2 (RAN binding protein 2) gene. ANE1 is frequently triggered by a febrile infection and characterized by serious and irreversible neurological damage. Although only a few hundred cases have been reported, mutations in RANBP2 are only partially penetrant and can occur de novo , suggesting that their frequency may be higher in some populations. Genetic diagnosis is a lengthy process, potentially delaying definitive diagnosis...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38029778/word-finding-difficulties-as-a-prominent-early-finding-in-a-later-diagnosis-of-attention-deficit-hyperactivity-disorder
#27
JOURNAL ARTICLE
Esther Ganelin-Cohen, Tammy Pilowsky Peleg, Noa Leibovich, Esther Bachrachg, Nathan Watemberg
OBJECTIVE:  Attention deficit hyperactivity disorder (ADHD) is a common neuropsychological disorder primarily diagnosed in childhood. Early intervention was found to significantly improve developmental outcomes, implicating on the role of early identification of ADHD markers. In the current study, we explored the developmental history of children referred to neurological assessment to identify early ADHD predictors. METHODS:  A total of 92 children and adolescents (41 females) recruited at a pediatric neurology clinic, with suspected ADHD ( n  = 39) or other neurological difficulties ( n  = 53) such as headaches, seizures, tic disorders, orthostatic hypotension, postischemic stroke, intermittent pain, and vasovagal syncope...
November 29, 2023: Neuropediatrics
https://read.qxmd.com/read/38021856/clinical-worsening-of-charcot-marie-tooth-disease-due-to-overlapping-acute-inflammatory-polyneuropathy
#28
Joana Pinto, Mariana Santos, Diana Matos, Andreia Ferreira, Ana Filipa Santos
We report a case of a six-year-old male with Charcot-Marie-Tooth disease (CMT) type 1B due to  MPZ gene mutation who experienced an acute worsening of his symptoms a few years after the diagnosis. He was not able to walk without assistance and had transitory paresthesia in his hands, 10 days after suffering from an upper respiratory and diarrheal illness. The investigation revealed elevated cerebrospinal fluid (CSF) protein levels with no pleocytosis, and sensory and motor chronic demyelinating neuropathy without active denervation findings on electrophysiological studies...
October 2023: Curēus
https://read.qxmd.com/read/37995745/adolescent-onset-epilepsy-clinical-features-and-predictive-factors-for-first-year-seizure-freedom
#29
JOURNAL ARTICLE
Jon Soo Kim, Hyewon Woo, Jae Hee Lee, Won Seop Kim
BACKGROUND: Teenagers with epilepsy require special attention to ensure a successful treatment journey. Our objective was to delineate the clinical characteristics of adolescent-onset epilepsy and investigate the predictive factors influencing first-year seizure freedom. METHODS: We retrospectively analyzed the medical records of patients whose first seizure occurred between the ages of 10 and 19 years and who received antiseizure medication (ASM) treatment for at least 12 months...
November 23, 2023: Neuropediatrics
https://read.qxmd.com/read/37984419/seizure-control-outcomes-following-resection-of-cortical-dysplasia-in-patients-with-depdc5-variants-a-systematic-review-and-individual-patient-data-analysis
#30
JOURNAL ARTICLE
Christopher McGinley, Saige Teti, Katherine Hofmann, John M Schreiber, Nathan T Cohen, William D Gaillard, Chima O Oluigbo
There is insufficient evidence regarding the efficacy of epilepsy surgery in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 (dishevelled EGL-10 and pleckstrin domain-containing protein 5) pathogenic (P), likely pathogenic (LP), or variance of unknown significance (VUS) variants. To conduct a systematic review on the literature regarding the use and efficacy of epilepsy surgery as an intervention for patients with DEPDC5 variants who have pharmacoresistant epilepsy. A systematic review of the current literature published regarding the outcomes of epilepsy surgery for patients with DEPDC5 variants was conducted...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37973159/anti-nmda-autoimmune-encephalitis-post-covid-19-vaccination-in-a-pediatric-patient-a-case-report
#31
JOURNAL ARTICLE
Haila Alabssi, Nouf F Almulhim, Mohammed Al-Omari, Ayat H Safar
Post-coronavirus disease 2019 (COVID-19) vaccination encephalitis is rarely reported particularly in the pediatric population. Herein, we report the first case of postvaccination anti-N-methyl-d-aspartate (NMDA) encephalitis in close temporal association with receiving COVID-19 vaccine in a pediatric patient. The patient is a 13-year-old female who received the first dose of the Pfizer-BioNTech COVID-19 vaccine and presented with subacute neurological and psychiatric symptoms and eventually confirmed the diagnosis of anti-NMDA autoimmune encephalitis...
December 28, 2023: Neuropediatrics
https://read.qxmd.com/read/37956703/48th-annual-conference-of-the-german-neuropediatric-society-gnp-and-19th-gnp-training-course-academy
#32
JOURNAL ARTICLE
Kevin Rostasy
No abstract text is available yet for this article.
November 13, 2023: Neuropediatrics
https://read.qxmd.com/read/37949021/reliability-of-signal-intensity-in-the-basal-ganglia-on-non-contrast-t1-weighted-mr-scans-after-repetitive-application-of-a-gadolinium-based-contrast-agent-in-pediatric-neuro-oncology-patients
#33
JOURNAL ARTICLE
Azadeh Hojreh, Amra Mulabdic, Julia Furtner, Christoph Krall, Ivana Pogledic, Andreas Peyrl, Pascal Andreas Thomas Baltzer
PURPOSE: To evaluate the reliability of signal intensity (SI) changes in the basal ganglia as a supposed indicator of gadolinium deposition in the brain after repetitive application of gadolinium-based contrast agents (GBCAs) in a pediatric neuro-oncological collective. METHODS: One hundred and eight neuropediatric patients (54 male, 54 female, 0-17 years old), with repetitive GBCA-enhanced cranial MRIs between 2003 and 2017, were retrospectively analyzed. Two radiologists measured SI in the nucleus dentatus (ND), globus pallidus (GP), thalamus (T), and the pons (P)...
October 31, 2023: European Journal of Radiology
https://read.qxmd.com/read/37942971/-the-possibilities-of-mexidol-usage-in-neuropediatrics
#34
JOURNAL ARTICLE
N N Zavadenko, N Yu Suvorinova, A N Zavadenko
Mexidol (ethylmethylhydroxypyridine succinate) is a modern neurometabolic medication increasingly being used in neuropediatrics. The results of recent studies confirming the positive effects of Mexidol pharmacotherapy in children with attention deficit hyperactivity disorder (ADHD), perinatal damages of the central nervous system (hypoxic-ischemic encephalopathy) and their consequences, neurological disorders and neurodevelopmental delay after surgery for congenital heart defects, neuroinfections (meningitis, encephalitis), posttraumatic epilepsy...
2023: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/37935417/a-novel-pathogenic-variant-in-the-sca25-related-gene-expanding-the-etiology-of-early-onset-and-progressive-cerebellar-ataxia-in-childhood
#35
JOURNAL ARTICLE
Giulia Ferrera, Rossella Izzo, Daniele Ghezzi, Lorenzo Nanetti, Eleonora Lamantea, Anna Ardissone
Spinocerebellar ataxias (SCAs) are heterogeneous autosomal dominant progressive ataxic disorders. SCA25 has been linked to PNPT1 pathogenic variants. Although pediatric onset is not unusual, to date only one patient with onset in the first years of life has been reported. This study presents an additional case, wherein symptoms emerged during the toddler phase, accompanied by the identification of a novel PNPT1 variant. The child was seen at 3 years because of frequent falls. Neurological examination revealed cerebellar signs and psychomotor delay...
January 16, 2024: Neuropediatrics
https://read.qxmd.com/read/37927744/autosomal-dominant-intellectual-development-disorder-6-mrd6-without-seizures-linked-to-a-de-novo-mutation-in-the-grin2b-gene-revealed-by-exome-sequencing-a-case-report-of-a-moroccan-child
#36
Hinde El Mouhi, Meriame Abbassi, Hanane Sayel, Said Trhanint, Abdelhafid Natiq, Brahim El Hejjioui, Merym Jalte, Youssef Ahmadi, Sana Chaouki
Autosomal dominant intellectual development disorder-6 (MRD6) arises from a grin2b gene mutation, inducing neurodevelopmental issues. The effects of MRD6 encompass cognitive disabilities, seizures, muscle tone decline, and autism-like traits. Its severity ranges from mild impairment to severe epilepsy. The disorder's rarity is emphasized by roughly 100 reported GRIN2B-related cases, spotlighting the gene's significance in brain development. We present the case of a three-year-old Moroccan boy who was referred to a neuropediatric department for a molecular diagnosis...
October 2023: Curēus
https://read.qxmd.com/read/37913822/the-possible-role-of-the-superior-sagittal-sinus-in-regulating-cerebrospinal-fluid-dynamics-among-preterm-infants-a-case-report-and-a-review-of-the-literature
#37
REVIEW
Chiara Andreato, Sara Uccella, Marcella Battaglini, Mattia Pacetti, Domenico Tortora, Luca A Ramenghi
We report the case of a preterm of 27 weeks of gestation who developed posthemorrhagic ventricular dilatation associated to a complete thrombosis of the superior sagittal sinus, for its peculiar interest in clarifying the physiology of the cerebrospinal fluid (CSF) dynamics. The exact CSF volume that must be removed to improve cerebral hemodynamics and outcomes in infants with posthemorrhagic ventricular dilatation is unknown. According to Volpe's studies, a volume of 10 to 15 mL/kg/die of body weight is commonly chosen...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37884937/mitochondrial-modulation-with-leriglitazone-as-a-potential-treatment-for-rett-syndrome
#38
JOURNAL ARTICLE
Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodríguez-Pascau, Clara Xiol, Alba A Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla, Alfonso Oyarzábal
BACKGROUND: Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in the loss of acquired capabilities such as speech or purposeful usage of hands. While altered neurotransmission and brain development are the center of its pathophysiology, alterations in mitochondrial performance have been previously outlined, shaping it as an attractive target for the disease treatment...
October 26, 2023: Journal of Translational Medicine
https://read.qxmd.com/read/37871611/effects-of-neonatal-hypoxic-ischemic-injury-on-brain-sterol-synthesis-and-metabolism
#39
JOURNAL ARTICLE
Amanda M Dave, Ned A Porter, Zeljka Korade, Eric S Peeples
BACKGROUND:  Neonatal hypoxic-ischemic brain injury (HIBI) results from disruptions to blood supply and oxygen in the perinatal brain. The goal of this study was to measure brain sterol metabolites and plasma oxysterols after injury in a neonatal HIBI mouse model to assess for potential therapeutic targets in the brain biochemistry as well as potential circulating diagnostic biomarkers. METHODS:  Postnatal day 9 CD1-IGS mouse pups were randomized to HIBI induced by carotid artery ligation followed by 30 minutes at 8% oxygen or to sham surgery and normoxia...
February 2024: Neuropediatrics
https://read.qxmd.com/read/37846133/acox1-gain-of-function-variant-in-two-german-pediatric-patients-in-one-case-mimicking-autoimmune-inflammatory-disease
#40
JOURNAL ARTICLE
C Thiels, T Lücke, T Rothoeft, C Lukas, H P Nguyen, J C von Kleist-Retzow, H Prokisch, M Grimmel, T B Haack, S Hoffjan
Mitchell syndrome is a very rare genetic disorder due to a specific de novo gain-of-function variant in acyl-CoA oxidase 1 ( ACOX1 ). So far, only five patients with this disease have been described worldwide. We present here two additional unrelated German patients found to carry the same heterozygous ACOX1  N237S variant through exome sequencing (ES). Both patients showed neurodegenerative clinical features starting from ∼4 to 5 years of age including progressive hearing loss, ataxia, ichthyosis, as well as progressive visual impairment leading to amaurosis, and died at the ages of 16 and 8 years, respectively...
October 16, 2023: Neuropediatrics
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