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Journal of Child Neurology最新文献

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Valproic Acid-Associated von Willebrand Disease and Delayed-Onset Orbital Hematoma. 丙戊酸相关血管性血友病和延迟性眼眶血肿。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-10-06 DOI: 10.1177/08830738251381665
Bahram Eshraghi, Leila Babaei, Mohammadreza Zolfaghari, Farzad Kheirmand, Ali Aghajani
{"title":"Valproic Acid-Associated von Willebrand Disease and Delayed-Onset Orbital Hematoma.","authors":"Bahram Eshraghi, Leila Babaei, Mohammadreza Zolfaghari, Farzad Kheirmand, Ali Aghajani","doi":"10.1177/08830738251381665","DOIUrl":"10.1177/08830738251381665","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"727-729"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Moving Toes Syndrome in Children and Youth: Case Series of a Rare Disorder. 儿童和青少年的动趾综合征：一种罕见疾病的病例系列。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-10-21 DOI: 10.1177/08830738251383179
Asif Doja, Richa Tripathi, David Scarisbrick, Wes Kimble, Luca Soliani, Rosa Pugliano, Duccio Maria Cordelli, Luca Bergonzini
{"title":"Moving Toes Syndrome in Children and Youth: Case Series of a Rare Disorder.","authors":"Asif Doja, Richa Tripathi, David Scarisbrick, Wes Kimble, Luca Soliani, Rosa Pugliano, Duccio Maria Cordelli, Luca Bergonzini","doi":"10.1177/08830738251383179","DOIUrl":"10.1177/08830738251383179","url":null,"abstract":"<p><p>\"Moving toes syndrome\" is a rare movement disorder with painful and painless forms. There is a paucity of literature on patients presenting with moving toes syndrome in the first 2 decades. We present 3 cases of moving toes syndrome, with symptom onset between 9 and 19 years. Pain was variable in these patients. Etiologies included minor trauma in 2 patients and a central thalamic-hypothalamic lesion in another. Two of 3 patients required no treatment, and symptoms gradually improved. Similar to adults, children and youth with moving toes syndrome can demonstrate features that overlap with functional movement disorders. Moving toes syndrome presenting in childhood and adolescence appears to be more benign than in adults, with many patients improving over time.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"743-746"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145336917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India. 北印度先天性肌肉萎缩症儿童的临床和遗传景观。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-09-22 DOI: 10.1177/08830738251374530
Anirban Basu, Renu Suthar, Abhishek Pandey, Prateek Bhatia, Inusha Panigrahi, Sameer Vyas, Arushi G Saini, Jitendra K Sahu, Naveen Sankhyan
{"title":"Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.","authors":"Anirban Basu, Renu Suthar, Abhishek Pandey, Prateek Bhatia, Inusha Panigrahi, Sameer Vyas, Arushi G Saini, Jitendra K Sahu, Naveen Sankhyan","doi":"10.1177/08830738251374530","DOIUrl":"10.1177/08830738251374530","url":null,"abstract":"<p><p>Congenital muscular dystrophies are inherited disorders defined by early-onset muscle weakness, motor delay, and dystrophic muscle pathology. This study aimed to report the clinical and genetic landscape of children with congenital muscular dystrophies from North India. Cognitive and motor outcomes and quality of life were evaluated during follow-up. In a cross-sectional study, 42 children aged <18 years with clinical and genetic diagnosis of congenital muscular dystrophy were enrolled. The most common congenital muscular dystrophy subtype was <i>COL6</i>-related dystrophy (RD) (32%), followed by <i>LAMA2</i>-RD (26%), <i>LMNA</i>-RD (19%), α-dystroglycanopathy (α-DG; 9%), and <i>CHKB</i>-RD (5%). Motor and cognitive outcomes were was assessed in 33 (78%) children during follow-up, 45% (n = 19) were able to ambulate independently. Median value of the Motor Function Measure (MFM) score was 60 (interquartile range [IQR] 33-74), Brooke was 2 (IQR 1-4), and Vigno score was 6 (IQR 3-9). The median Medical Research Council sum score was 40 (IQR 29-47) and Vineland Social Maturity Scale (VSMS) score was 83.5 (IQR 64-86). The motor outcome and quality of life were worst affected in children with α-DG and <i>LAMA2-RD</i>. Hence, in a cohort of children with congenital muscular dystrophy from North India, <i>COL6</i>-RD and <i>LAMA2</i>-RD were the most common congenital muscular dystrophy subtypes. Motor impairment in children with congenital muscular dystrophy is profound, the majority being nonambulant and the children with α-DG most severely affected.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"674-699"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Iatrogenic Botulism Following Botulinum Toxin Injection in a Child With Cerebral Palsy: A Case Report. 脑性麻痹患儿注射肉毒杆菌毒素致医源性肉毒中毒1例。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-11-24 DOI: 10.1177/08830738251395996
Selcan Öztürk, Serap Tomruk Sütbeyaz, Hüseyin Per
{"title":"Iatrogenic Botulism Following Botulinum Toxin Injection in a Child With Cerebral Palsy: A Case Report.","authors":"Selcan Öztürk, Serap Tomruk Sütbeyaz, Hüseyin Per","doi":"10.1177/08830738251395996","DOIUrl":"10.1177/08830738251395996","url":null,"abstract":"<p><p>BackgroundBotulinum toxin is widely used for the treatment of spasticity in pediatric patients with cerebral palsy. Although regarded as safe, rare but severe systemic complications, such as iatrogenic botulism, may arise.Case PresentationWe present the case of an 8-year-old boy with cerebral palsy who experienced global muscle weakness, bilateral ptosis, dysphagia, and respiratory distress after botulinum toxin A (Dysport). The clinical presentation was consistent with iatrogenic botulism. The patient was administered botulinum antitoxin, resulting in a gradual enhancement of the condition. Sequential clinical photos depict the progression of the sickness and subsequent recovery, which led to progressive improvement.ConclusionIatrogenic botulism must be contemplated in individuals exhibiting new-onset bulbar or respiratory symptoms after botulinum toxin injection. Timely identification and prompt commencement of antitoxin treatment are essential for positive outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"747-750"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145595929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study. 通过看护人报告了解马兰综合征的癫痫发作：一项横断面研究。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-09-22 DOI: 10.1177/08830738251377149
Sweta Dubey, Senyene E Hunter, Christal G Delagrammatikas, Gloria Pinero, Vimala Elumalai, Muhammad Shahzad Zafar
{"title":"Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study.","authors":"Sweta Dubey, Senyene E Hunter, Christal G Delagrammatikas, Gloria Pinero, Vimala Elumalai, Muhammad Shahzad Zafar","doi":"10.1177/08830738251377149","DOIUrl":"10.1177/08830738251377149","url":null,"abstract":"<p><p>Malan syndrome is an ultrarare overgrowth-intellectual disability syndrome caused by <i>NFIX</i> variants, characterized by intellectual disability, postnatal overgrowth, and dysmorphic features. Seizures in Malan syndrome remain poorly understood. We surveyed caregivers of 53 individuals with Malan syndrome. Overall, 55% had seizures or electroencephalographic (EEG) abnormalities. Seizures occurred in 47%, with 28% experiencing drug-resistant epilepsy. The median age of seizure onset was 3 years. Epilepsy classifications included focal (40%) and unknown-onset tonic-clonic seizures (48%). Generalized tonic-clonic (8%), myoclonic (8%), and epileptic spasms (4%) were also reported. Of those with seizures, 44% had status epilepticus. Valproic acid was the most used antiseizure medication, with variable efficacy. This study represents the largest cohort to date, providing detailed descriptions of seizures in Malan syndrome, and lays a foundation for future research phenotyping epilepsy in affected individuals. Clinicians should maintain a high suspicion of seizures and monitor closely for status epilepticus in individuals with Malan syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"666-673"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders. 四倍的考虑：四种遗传条件揭示了发展迟缓的设置，包括一个复杂的DMD重排，端粒生物学障碍，和神经发育障碍。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-10-15 DOI: 10.1177/08830738251383989
Allison G Wheeler, Kaylee Dollerschell, Melissa A Gibbons, Michele L Yang
{"title":"Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex <i>DMD</i> Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.","authors":"Allison G Wheeler, Kaylee Dollerschell, Melissa A Gibbons, Michele L Yang","doi":"10.1177/08830738251383989","DOIUrl":"10.1177/08830738251383989","url":null,"abstract":"<p><p>We present a patient with dystrophinopathy and additional complex genetic variants to highlight potential challenges in directing the care and discussion of treatment options. A 12-month-old male child presented to neurology with global delays, including gross motor and speech delay, macrocephaly with frontal bossing, short stature, and hypertelorism. He underwent extensive genetic workup, which identified 4 genetic diagnoses including an intragenic <i>DMD</i> inversion flanked by single exon deletions, a telomere biology disorder, and 2 neurodevelopmental conditions. Our case highlights the need for heightened awareness of atypical dystrophinopathy phenotypes and utility of emerging genetic testing technologies. In an era of novel therapeutics, including genetically-based treatments, the constellation of genetic variants poses potentially interesting and unique challenges for treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"738-742"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145300886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurologic Presentation in Human Metapneumovirus - Beyond the Lungs. 人偏肺病毒的神经学表现-肺外
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-10-15 DOI: 10.1177/08830738251383178
Amruthavarshini Gandikota, Neelu Desai, Ajit Gajendragadkar
{"title":"Neurologic Presentation in Human Metapneumovirus - Beyond the Lungs.","authors":"Amruthavarshini Gandikota, Neelu Desai, Ajit Gajendragadkar","doi":"10.1177/08830738251383178","DOIUrl":"10.1177/08830738251383178","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"730-732"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145300959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Very-Early-Onset Treatment-Refractory Pediatric Chronic Inflammatory Demyelinating Polyradiculoneuropathy Responsive to Multimodal Therapy. 非常早发治疗难治性儿童慢性炎症性脱髓鞘性多根神经病变对多模式治疗有反应。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2025-10-14 DOI: 10.1177/08830738251382563
Hoda Y Tomoum, Dalia M El-Mikkawy, Rasha H El-Owaidy, Amro M Stino
{"title":"Very-Early-Onset Treatment-Refractory Pediatric Chronic Inflammatory Demyelinating Polyradiculoneuropathy Responsive to Multimodal Therapy.","authors":"Hoda Y Tomoum, Dalia M El-Mikkawy, Rasha H El-Owaidy, Amro M Stino","doi":"10.1177/08830738251382563","DOIUrl":"10.1177/08830738251382563","url":null,"abstract":"<p><p>Chronic inflammatory demyelinating polyradiculoneuropathy is a treatable pediatric polyneuropathy, with both a typical form and variants. The approach to treatment-refractory chronic inflammatory demyelinating polyradiculoneuropathy is not fully characterized, especially in children with very-early-onset chronic inflammatory demyelinating polyradiculoneuropathy, namely, those with symptom onset before 4 years of age. We herein report the case of a 30-month-old child with treatment-refractory, very-early-onset chronic inflammatory demyelinating polyradiculoneuropathy who failed to respond to initial intravenous immunoglobulin and then corticosteroid monotherapy. He was ultimately switched to combined pulsed intravenous methylprednisolone and plasma exchange, followed by induction and maintenance rituximab therapy. The patient exhibited a significant and sustained clinical response to this regimen.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"733-737"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145763015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Status Epilepticus in Children With Hemophagocytic Lymphohistiocytosis: Literature Review. 患有噬血细胞淋巴组织细胞病的儿童癫痫持续状态：文献综述。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2026-02-05 DOI: 10.1177/08830738261416625
Fatma Pınar Tabanlı, Miraç Yıldırım, Mert Altıntaş, Tanıl Kendirli, Ömer Bektaş, Serap Teber
{"title":"Status Epilepticus in Children With Hemophagocytic Lymphohistiocytosis: Literature Review.","authors":"Fatma Pınar Tabanlı, Miraç Yıldırım, Mert Altıntaş, Tanıl Kendirli, Ömer Bektaş, Serap Teber","doi":"10.1177/08830738261416625","DOIUrl":"10.1177/08830738261416625","url":null,"abstract":"<p><p>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder involving systemic inflammation and multi-organ damage, which often affects the central nervous system (CNS). Familial HLH, which is caused by mutations in genes such as <i>PRF1</i> and <i>UNC13D</i>, impairs the function of cytotoxic cells, leading to uncontrolled immune activation. CNS involvement occurs in 30% to 73% of cases and manifests as seizures, encephalopathy or status epilepticus, which often mimics other neurologic conditions. This article presents the case of a 28-month-old boy with <i>PRF1</i>-related HLH who developed super-refractory status epilepticus during CNS relapse, despite having undergone a prior hematopoietic stem cell transplantation (HSCT). An initial MRI scan revealed diffuse cortical and cerebellar abnormalities, whereas systemic HLH findings emerged later. Treatment included antiseizure medications, immunotherapy and etoposide, but severe neurologic deficits persisted. A review of the literature on 20 pediatric HLH cases presenting with status epilepticus revealed a variety of presentations, including focal, generalized and febrile infection-related epilepsy syndrome (FIRES). Neuroimaging showed white matter lesions, atrophy or diffusion abnormalities, whereas CSF findings ranged from normal to elevated protein and neopterin levels. Mortality was high (45%), with survivors often experiencing cognitive or motor impairments. HLH relapse can initially present with isolated CNS involvement, emphasizing the need for early neuroimaging and cerebrospinal fluid (CSF) analysis in suspected cases. Despite aggressive treatment, outcomes remain poor, highlighting the need for further research into optimal management strategies.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"761-769"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Future Insights From Pioneers of Child Neurology. 儿童神经病学先驱的未来见解。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2026-05-01 Epub Date: 2026-03-18 DOI: 10.1177/08830738261422850
Susan K Klein
{"title":"Future Insights From Pioneers of Child Neurology.","authors":"Susan K Klein","doi":"10.1177/08830738261422850","DOIUrl":"10.1177/08830738261422850","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"623-625"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147480714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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