Pub Date : 2025-04-15DOI: 10.1016/j.ejpn.2025.03.016
Nicole I. Wolf , Marjo S. van der Knaap , Marc Engelen
Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatments are shifting the field from therapeutic nihilism to cautious optimism. Allogenic haematopoietic stem cell transplantation (HSCT), used since the 1980s, has shown efficacy in specific leukodystrophies, such as adrenoleukodystrophy and metachromatic leukodystrophy, when administered early. Gene therapy has become a viable option, with ex vivo approaches like atidarsagene autotemcel providing promising outcomes for early-onset MLD. Trials for gene replacement and antisense oligonucleotide therapies are ongoing for several leukodystrophies, including Canavan disease and Alexander disease. Certain treatments, such as guanabenz for Vanishing White Matter, target disease-specific dysregulated molecular pathways. Despite these advances, challenges remain, including the ultrarare nature of most leukodystrophies, limited natural history data, high treatment costs, and barriers to accessibility. Future developments, including newborn screening and close international collaboration, aim to enhance early diagnosis, refine treatment timing, and expand access to innovative therapies.
{"title":"Treatment of leukodystrophies: Advances and challenges","authors":"Nicole I. Wolf , Marjo S. van der Knaap , Marc Engelen","doi":"10.1016/j.ejpn.2025.03.016","DOIUrl":"10.1016/j.ejpn.2025.03.016","url":null,"abstract":"<div><div>Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatments are shifting the field from therapeutic nihilism to cautious optimism. Allogenic haematopoietic stem cell transplantation (HSCT), used since the 1980s, has shown efficacy in specific leukodystrophies, such as adrenoleukodystrophy and metachromatic leukodystrophy, when administered early. Gene therapy has become a viable option, with ex vivo approaches like atidarsagene autotemcel providing promising outcomes for early-onset MLD. Trials for gene replacement and antisense oligonucleotide therapies are ongoing for several leukodystrophies, including Canavan disease and Alexander disease. Certain treatments, such as guanabenz for Vanishing White Matter, target disease-specific dysregulated molecular pathways. Despite these advances, challenges remain, including the ultrarare nature of most leukodystrophies, limited natural history data, high treatment costs, and barriers to accessibility. Future developments, including newborn screening and close international collaboration, aim to enhance early diagnosis, refine treatment timing, and expand access to innovative therapies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 46-50"},"PeriodicalIF":2.3,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
knowledge about lasting effects of continuous intrathecal baclofen (CITB) therapy during development into adulthood in non-ambulant individuals with cerebral palsy (CP) is limited.
Aim
we assessed individual goals including ease of care, pain reduction, at long term. Also, we aimed to gauge burden of CITB through hospitalization rates, orthopedic surgeries, pump-related complications, pump refills, and satisfaction levels among individuals and caregivers.
Methods
a prospective cohort of 17 individuals with CP (pump implantation 2002–2005) was assessed in 2022. Visual Analogue Scale (VAS) scores, Child Health Questionnaire Parent Form-50 (CHQ-PF50), and a Likert-scale questionnaire, were employed. Data was gathered through interviews with individuals or caregivers.
Results
fifteen individuals were alive at initial follow-up (mean age 31.8 years). Statistically significant improvements in VAS scores for individual goals, ease of care, and pain observed six months post-therapy initiation persisted into adulthood. Mental health and change in health decreased back to baseline at long-term follow-up, other domains of quality in life did not differ significantly. Treatment-related hospital admission was one per 3.6 years, of which 13.2 % were due to complications. The number of patients with scoliosis increased during the years. Despite, the majority (80 %) expressed continued preference for CITB treatment.
Conclusion
improvements of CITB on domains of body function, activities and social participation, and quality of life persist into adulthood. Although there are some side effects of CITB therapy, both patients and their caregivers report high satisfaction.
{"title":"From childhood to adulthood: Long-term assessment of continuous intrathecal baclofen therapy in non-ambulant spastic cerebral palsy","authors":"B.H.M. Martens , M. Iskander , D.L. Soudant , G.F. Vles , L.A. Bonouvrié , O.P.M. Teernstra , J.S.H. Vles , R.J. Vermeulen","doi":"10.1016/j.ejpn.2025.04.002","DOIUrl":"10.1016/j.ejpn.2025.04.002","url":null,"abstract":"<div><h3>Background</h3><div>knowledge about lasting effects of continuous intrathecal baclofen (CITB) therapy during development into adulthood in non-ambulant individuals with cerebral palsy (CP) is limited.</div></div><div><h3>Aim</h3><div>we assessed individual goals including ease of care, pain reduction, at long term. Also, we aimed to gauge burden of CITB through hospitalization rates, orthopedic surgeries, pump-related complications, pump refills, and satisfaction levels among individuals and caregivers.</div></div><div><h3>Methods</h3><div>a prospective cohort of 17 individuals with CP (pump implantation 2002–2005) was assessed in 2022. Visual Analogue Scale (VAS) scores, Child Health Questionnaire Parent Form-50 (CHQ-PF50), and a Likert-scale questionnaire, were employed. Data was gathered through interviews with individuals or caregivers.</div></div><div><h3>Results</h3><div>fifteen individuals were alive at initial follow-up (mean age 31.8 years). Statistically significant improvements in VAS scores for individual goals, ease of care, and pain observed six months post-therapy initiation persisted into adulthood. Mental health and change in health decreased back to baseline at long-term follow-up, other domains of quality in life did not differ significantly. Treatment-related hospital admission was one per 3.6 years, of which 13.2 % were due to complications. The number of patients with scoliosis increased during the years. Despite, the majority (80 %) expressed continued preference for CITB treatment.</div></div><div><h3>Conclusion</h3><div>improvements of CITB on domains of body function, activities and social participation, and quality of life persist into adulthood. Although there are some side effects of CITB therapy, both patients and their caregivers report high satisfaction.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 17-23"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-12DOI: 10.1016/j.ejpn.2025.03.015
Itay Tokatly Latzer , Phillip L. Pearl
γ-aminobutyric acid (GABA) serves as the main inhibitory cortical neurotransmitter and is involved in crucial functions of neural circuitry affecting cognition, communication, movement, behavior, and the seizure threshold. GABAergic neurons and interneurons contribute to essential aspects of cortical dynamic organization and regulatory processes and mediate aspects of synaptic development. Inherited metabolic disorders affecting the metabolic pathways of GABA, its transport, and its receptors lead to a wide array of neurodevelopmental manifestations. Presentation typically ensues at early ages but could occur later in life and range in severity. This group of disorders warrants increased suspicion, as their early identification and management may lead to clinical improvement and shorten the diagnostic odyssey often associated with affected individuals. We provide an overview of the scientific basis, clinical presentation, and ongoing therapeutic advances of the main disorders of GABA metabolism stemming from deficiencies of succinic semialdehyde dehydrogenase (SSADH), GABA-transaminase, GABA transporter, and GABA receptor subunits.
{"title":"Update on inherited disorders of GABA metabolism","authors":"Itay Tokatly Latzer , Phillip L. Pearl","doi":"10.1016/j.ejpn.2025.03.015","DOIUrl":"10.1016/j.ejpn.2025.03.015","url":null,"abstract":"<div><div>γ-aminobutyric acid (GABA) serves as the main inhibitory cortical neurotransmitter and is involved in crucial functions of neural circuitry affecting cognition, communication, movement, behavior, and the seizure threshold. GABAergic neurons and interneurons contribute to essential aspects of cortical dynamic organization and regulatory processes and mediate aspects of synaptic development. Inherited metabolic disorders affecting the metabolic pathways of GABA, its transport, and its receptors lead to a wide array of neurodevelopmental manifestations. Presentation typically ensues at early ages but could occur later in life and range in severity. This group of disorders warrants increased suspicion, as their early identification and management may lead to clinical improvement and shorten the diagnostic odyssey often associated with affected individuals. We provide an overview of the scientific basis, clinical presentation, and ongoing therapeutic advances of the main disorders of GABA metabolism stemming from deficiencies of succinic semialdehyde dehydrogenase (SSADH), GABA-transaminase, GABA transporter, and GABA receptor subunits.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 10-16"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-10DOI: 10.1016/j.ejpn.2025.04.003
Anna Mercante , Nardo Nardocci , Emilio Fernández-Alvarez , Daniel E. Lumsden , Julie Hauer , Mercedes Bernadá , Ross Drake , Ulrika Kreicbergs , Rocío Palomo-Carrión , Marco Gemma , Philippe Coubes , Alfonso Fasano , Jean-Pierre Lin , Franca Benini , Pediatric Dystonia and Palliative Care Group and the European Paediatric Neurology Society (EPNS)
Background
Pediatric dystonias are associated with a broad spectrum of etiologies, resulting in a heterogeneous patient population in whom clinical presentation, evolution, and therapeutic needs may differ. These neurological symptoms are particularly common in children and adolescents with life-limiting and life-threatening conditions requiring pediatric palliative care (PPC). The impact on the child's quality of life is significant, as is distress for caregivers. Addressing and alleviating dystonia is key to providing good palliative care; however, there is limited evidence. A greater recognition and management of dystonia in this setting is urgently needed to provide appropriate interventions and care.
Objectives
To develop a standardized approach to dystonia in PPC.
Materials and methods
A two-round Delphi process explored the views of experts on the definition, assessment, monitoring, and treatment of dystonia in PPC. Professionals from different backgrounds and disciplines were invited worldwide. The final panel comprised 71 participants who completed a multi-statement online questionnaire.
Results
Fifty-three items were endorsed, providing expert, consensus-based recommendations.
Conclusions
The limited clinical knowledge of childhood dystonia represents a challenge, especially in children with palliative care needs. This study is a first international consensus on dystonia in PPC and offers novel approaches to improving the dystonia-related burden and advancing clinical practice in this vulnerable population.
{"title":"Towards new perspectives: International consensus guidance on dystonia in pediatric palliative care","authors":"Anna Mercante , Nardo Nardocci , Emilio Fernández-Alvarez , Daniel E. Lumsden , Julie Hauer , Mercedes Bernadá , Ross Drake , Ulrika Kreicbergs , Rocío Palomo-Carrión , Marco Gemma , Philippe Coubes , Alfonso Fasano , Jean-Pierre Lin , Franca Benini , Pediatric Dystonia and Palliative Care Group and the European Paediatric Neurology Society (EPNS)","doi":"10.1016/j.ejpn.2025.04.003","DOIUrl":"10.1016/j.ejpn.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric dystonias are associated with a broad spectrum of etiologies, resulting in a heterogeneous patient population in whom clinical presentation, evolution, and therapeutic needs may differ. These neurological symptoms are particularly common in children and adolescents with life-limiting and life-threatening conditions requiring pediatric palliative care (PPC). The impact on the child's quality of life is significant, as is distress for caregivers. Addressing and alleviating dystonia is key to providing good palliative care; however, there is limited evidence. A greater recognition and management of dystonia in this setting is urgently needed to provide appropriate interventions and care.</div></div><div><h3>Objectives</h3><div>To develop a standardized approach to dystonia in PPC.</div></div><div><h3>Materials and methods</h3><div>A two-round Delphi process explored the views of experts on the definition, assessment, monitoring, and treatment of dystonia in PPC. Professionals from different backgrounds and disciplines were invited worldwide. The final panel comprised 71 participants who completed a multi-statement online questionnaire.</div></div><div><h3>Results</h3><div>Fifty-three items were endorsed, providing expert, consensus-based recommendations.</div></div><div><h3>Conclusions</h3><div>The limited clinical knowledge of childhood dystonia represents a challenge, especially in children with palliative care needs. This study is a first international consensus on dystonia in PPC and offers novel approaches to improving the dystonia-related burden and advancing clinical practice in this vulnerable population.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 24-37"},"PeriodicalIF":2.3,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143858304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-02DOI: 10.1016/j.ejpn.2025.03.014
Camila Scarpino Barboza Franco , Noemi Biziaki Ansanello , Karoliny Lisandra Teixeira Cruz , Emanuela Juvenal Martins , Tenysson Will de Lemos , Cyntia Rogean de Jesus Alves , Ana Claudia Mattiello-Sverzut
Background
Charcot-Marie-Tooth disease type 1 (CMT1) is a prevalent inherited neuropathy characterized by progressive sensory and motor deficits affecting the peripheral nervous system. Although muscle weakness is commonly seen in the hands, weakness of more proximal muscles has been observed in adults. In childhood, the muscle strength of the upper limbs must be explored to understand the natural history of the disease.
Objective
This study assessed differences in the muscle strength of elbow flexors and extensors between typically developing children and adolescents (as controls) and those with CMT1 using isometric and isokinetic contractions.
Method
Eighteen children and adolescents with CMT1 participated and were matched with 36 controls in this case control study (1:2). The peak torque of elbow flexors (EFL) and extensors (EEX) was assessed using an isokinetic dynamometer through isometric and isokinetic contractions at a speed of 120°.s-1. Descriptive, t-tests and ANOVA were used for the statistical analysis.
Results
The CMT group exhibited significantly lower peak torque values across all assessed muscles and contraction types compared to the control group (p ≤ 0.05). Additionally, the isokinetic peak torque comparing the values of the elbow flexors with elbow extensors showed a significant difference to the control group (p ≤ 0.05). The intra-group analysis considering types of contractions showed no statistical difference.
Conclusion
Children with CMT1 presented proximal weakness in the muscles of the upper limbs, not only in the distal hand muscles. Health professionals should pay attention to the assessment and rehabilitation procedures with the aim of contributing to quality of life in the subsequent stages of life.
{"title":"Reduced elbow muscle strength in children and adolescents with Charcot-Marie-Tooth disease: a case control study","authors":"Camila Scarpino Barboza Franco , Noemi Biziaki Ansanello , Karoliny Lisandra Teixeira Cruz , Emanuela Juvenal Martins , Tenysson Will de Lemos , Cyntia Rogean de Jesus Alves , Ana Claudia Mattiello-Sverzut","doi":"10.1016/j.ejpn.2025.03.014","DOIUrl":"10.1016/j.ejpn.2025.03.014","url":null,"abstract":"<div><h3>Background</h3><div>Charcot-Marie-Tooth disease type 1 (CMT1) is a prevalent inherited neuropathy characterized by progressive sensory and motor deficits affecting the peripheral nervous system. Although muscle weakness is commonly seen in the hands, weakness of more proximal muscles has been observed in adults. In childhood, the muscle strength of the upper limbs must be explored to understand the natural history of the disease.</div></div><div><h3>Objective</h3><div>This study assessed differences in the muscle strength of elbow flexors and extensors between typically developing children and adolescents (as controls) and those with CMT1 using isometric and isokinetic contractions.</div></div><div><h3>Method</h3><div>Eighteen children and adolescents with CMT1 participated and were matched with 36 controls in this case control study (1:2). The peak torque of elbow flexors (EFL) and extensors (EEX) was assessed using an isokinetic dynamometer through isometric and isokinetic contractions at a speed of 120°.s-<sup>1</sup>. Descriptive, t-tests and ANOVA were used for the statistical analysis.</div></div><div><h3>Results</h3><div>The CMT group exhibited significantly lower peak torque values across all assessed muscles and contraction types compared to the control group (p ≤ 0.05). Additionally, the isokinetic peak torque comparing the values of the elbow flexors with elbow extensors showed a significant difference to the control group (p ≤ 0.05). The intra-group analysis considering types of contractions showed no statistical difference.</div></div><div><h3>Conclusion</h3><div>Children with CMT1 presented proximal weakness in the muscles of the upper limbs, not only in the distal hand muscles. Health professionals should pay attention to the assessment and rehabilitation procedures with the aim of contributing to quality of life in the subsequent stages of life.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.04.007
Thomas Rossor , Ming Lim
{"title":"Tumefactive demyelinating lesions: navigating the many faces of mimicry","authors":"Thomas Rossor , Ming Lim","doi":"10.1016/j.ejpn.2025.04.007","DOIUrl":"10.1016/j.ejpn.2025.04.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
To determine whether pulmonary hypertension (PH) is associated with higher risk of adverse neurodevelopmental outcome at age 5 in a population-based cohort of 22–31+6 preterm children.
Study design
In the EPIPAGE-2 French prospective population-based cohort of preterm children born in 2011, the neurodevelopmental outcome of children with PH was collected at 5 years. The primary outcome was a composite measure with four levels of neurodevelopmental disabilities: severe, moderate, mild, no disability, based on cerebral palsy, visual, hearing or cognitive deficiencies, behavioral difficulties and developmental coordination disorders. Secondary outcomes were autism spectrum disorders and school attendance. Missing data were multiply imputed. Developmental measures were compared using generalized estimating equations models.
Results
Of the 3007 eligible children, 1825 were analyzed, of whom 79 (4.3 %) were PH+. At age 5, 36.9 % (95 % CI, 26.0–47.8) of PH + children had moderate to severe overall neurodevelopmental disabilities compared with 17.9 % (95 % CI, 16.1–19.8) of PH–children, P < 0.001. Significant differences at 5 years between the PH+ and PH– groups were observed for cerebral palsy (CP) (6 % versus 2.3 % for severe CP, P = 0.003), cognitive deficiency (31.7 % versus 15.0 %, P < 0.001) and developmental coordination disorders (27.1 % versus 11.7 %, P < 0.001). There were no significant differences in behavioral difficulties and autism spectrum disorders. Normal school was attended by 69.2 % of PH + children versus 88.3 % of PH– children.
Conclusion
In this nationwide population-based cohort of extremely preterm and very preterm infants, moderate to severe overall neurodevelopmental disability at age 5 was significantly associated with neonatal PH.
{"title":"Neurodevelopmental outcomes at age 5 years among children born very preterm and surviving after persistent pulmonary hypertension of the newborn: EPIPAGE-2 cohort study","authors":"Sophie Breinig , Virginie Ehlinger , Jean-Christophe Rozé , Laurent Storme , Xavier Durrmeyer , Gilles Cambonie , Lionel Berthomieu , Valérie Benhammou , Geraldine Gascoin , Pierre-Yves Ancel , Catherine Arnaud","doi":"10.1016/j.ejpn.2025.03.007","DOIUrl":"10.1016/j.ejpn.2025.03.007","url":null,"abstract":"<div><h3>Objective</h3><div>To determine whether pulmonary hypertension (PH) is associated with higher risk of adverse neurodevelopmental outcome at age 5 in a population-based cohort of 22–31<sup>+6</sup> preterm children.</div></div><div><h3>Study design</h3><div>In the EPIPAGE-2 French prospective population-based cohort of preterm children born in 2011, the neurodevelopmental outcome of children with PH was collected at 5 years. The primary outcome was a composite measure with four levels of neurodevelopmental disabilities: severe, moderate, mild, no disability, based on cerebral palsy, visual, hearing or cognitive deficiencies, behavioral difficulties and developmental coordination disorders. Secondary outcomes were autism spectrum disorders and school attendance. Missing data were multiply imputed. Developmental measures were compared using generalized estimating equations models.</div></div><div><h3>Results</h3><div>Of the 3007 eligible children, 1825 were analyzed, of whom 79 (4.3 %) were PH+. At age 5, 36.9 % (95 % CI, 26.0–47.8) of PH + children had moderate to severe overall neurodevelopmental disabilities compared with 17.9 % (95 % CI, 16.1–19.8) of PH<strong>–</strong>children, P < 0.001. Significant differences at 5 years between the PH+ and PH<strong>–</strong> groups were observed for cerebral palsy (CP) (6 % versus 2.3 % for severe CP, P = 0.003), cognitive deficiency (31.7 % versus 15.0 %, P < 0.001) and developmental coordination disorders (27.1 % versus 11.7 %, P < 0.001). There were no significant differences in behavioral difficulties and autism spectrum disorders. Normal school was attended by 69.2 % of PH + children versus 88.3 % of PH<strong>–</strong> children.</div></div><div><h3>Conclusion</h3><div>In this nationwide population-based cohort of extremely preterm and very preterm infants, moderate to severe overall neurodevelopmental disability at age 5 was significantly associated with neonatal PH.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 103-110"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.04.006
William Whitehouse
{"title":"Bilateral Greater Occipital Nerve injections could be useful in migraine status presenting to paediatric emergency departments","authors":"William Whitehouse","doi":"10.1016/j.ejpn.2025.04.006","DOIUrl":"10.1016/j.ejpn.2025.04.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tumefactive lesions (TDL) are larger than 2 cm in diameter on T2-weighted brain MRI. They are distinguished from other types of demyelinating lesions by their size and degree of perilesional edema and/or rim enhancement, which can make diagnosis challenging.
Aim
To study the clinical and radiological features, follow-up and final diagnosis of patients presenting with TDL.
Method
Medical records of children seen at the Pediatric neurology and radiology department between 1992 and 2017 were reviewed. 15 patients younger than 18 years of age who had at least one TDL on their first magnetic resonance imaging (MRI) were included. Clinical and radiological features and evolution of imaging findings were studied.
Results
First, all patients were admitted acutely with a polysymptomatic presentations (86,6 %) mainly affecting the motor system (92,8 %). The largest diagnostic group was MS (n = 10, 66,6 %) with 9 out of 10 individual's diagnosed during follow up. At least one new clinical or radiological relapse was observed in 12 patients with a mean occurrence of 9 and 14 months respectively. All cases who developed a radiological relapse and most (n: 9, 75 %) of those who experienced a clinical relapse were diagnosed with MS and all had new lesions at the time of diagnosis. All children with MS had positive OCBs. X children were diagnosed with xxxxx Most TDLs (21/24, 87,5 %) were localized in the supratentorial area. TDL + other demyelinating lesions were observed in most 12/15 (80 %) patients and the size of TDL was between 2 and 4 cm (20/24, 83.3 %). All patients with MS, whether they had a single TDL or multiple TDLs, had accompanying small demyelinating lesions. On follow-up all TDLs became smaller (14/15, 93,3 %) or resolved (n = 1).
Conclusion
The non-infiltratind pattern, presence of multiple small demyelinating lesions and CSF oligoclonal band positivity may suggest MS, which is one of the most common causes. However, for a definitive diagnosis, patients should continue to be monitored with radiological imaging even in the absence of clinical relapses.
{"title":"Tumefactive demyelinating lesions in children","authors":"Ayberk Selek , Rahsan Göcmen , Ceren Günbey , Bahadır Konuşkan , Ibrahim Oncel , Banu Anlar","doi":"10.1016/j.ejpn.2025.03.005","DOIUrl":"10.1016/j.ejpn.2025.03.005","url":null,"abstract":"<div><div>Tumefactive lesions (TDL) are larger than 2 cm in diameter on T2-weighted brain MRI. They are distinguished from other types of demyelinating lesions by their size and degree of perilesional edema and/or rim enhancement, which can make diagnosis challenging.</div></div><div><h3>Aim</h3><div>To study the clinical and radiological features, follow-up and final diagnosis of patients presenting with TDL.</div></div><div><h3>Method</h3><div>Medical records of children seen at the Pediatric neurology and radiology department between 1992 and 2017 were reviewed. 15 patients younger than 18 years of age who had at least one TDL on their first magnetic resonance imaging (MRI) were included. Clinical and radiological features and evolution of imaging findings were studied.</div></div><div><h3>Results</h3><div>First, all patients were admitted acutely with a polysymptomatic presentations (86,6 %) mainly affecting the motor system (92,8 %). The largest diagnostic group was MS (n = 10, 66,6 %) with 9 out of 10 individual's diagnosed during follow up. At least one new clinical or radiological relapse was observed in 12 patients with a mean occurrence of 9 and 14 months respectively. All cases who developed a radiological relapse and most (n: 9, 75 %) of those who experienced a clinical relapse were diagnosed with MS and all had new lesions at the time of diagnosis. All children with MS had positive OCBs. X children were diagnosed with xxxxx Most TDLs (21/24, 87,5 %) were localized in the supratentorial area. TDL + other demyelinating lesions were observed in most 12/15 (80 %) patients and the size of TDL was between 2 and 4 cm (20/24, 83.3 %). All patients with MS, whether they had a single TDL or multiple TDLs, had accompanying small demyelinating lesions. On follow-up all TDLs became smaller (14/15, 93,3 %) or resolved (n = 1).</div></div><div><h3>Conclusion</h3><div>The non-infiltratind pattern, presence of multiple small demyelinating lesions and CSF oligoclonal band positivity may suggest MS, which is one of the most common causes. However, for a definitive diagnosis, patients should continue to be monitored with radiological imaging even in the absence of clinical relapses.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 33-37"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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