Annals of the Child Neurology Society最新文献

{"title":"Complex epilepsy phenotype associated with chromosome 2q24.2-q24.3 deletion involving sodium channel gene cluster","authors":"Rima Madan,&nbsp;Fiorella S. Guido,&nbsp;Nicole Brescia","doi":"10.1002/cns3.20087","DOIUrl":"https://doi.org/10.1002/cns3.20087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The 2q24.2-24.3 chromosome region encodes sodium channel genes important in severe childhood epilepsy, notably <i>SCN1A</i> linked to Dravet syndrome (DS). However, the roles of other genes, either within the SCN cluster or in the segments proximal to it, have not been clearly delineated. The combination of ketogenic diet and fenfluramine is known to provide substantial benefits to patients with DS, but there is a paucity of literature regarding its role in other developmental and epileptic encephalopathies (DEE). This report aims to further explore clinical findings and treatment outcomes in a patient with a complex epilepsy phenotype.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Our patient's extensive diagnostic evaluation revealed 14 deleted genes within the 2q24.2-24.3 chromosome region.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patient initially presented with clusters of focal motor seizures with apnea and cyanosis requiring intubation as well as prolonged hospitalizations for status epilepticus. He has baseline hypotonia, dysphagia, and developmental delay. He had a &gt;50% reduction in his seizures following a combination of ketogenic diet and fenfluramine. His seizures are now responsive to rescue midazolam, and he no longer has status epilepticus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our patient's remarkable clinical improvement suggests that this dual therapy may be beneficial in patients with DEE exhibiting pathogenic variations in this region of chromosome 2, beyond just DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"295-298"},"PeriodicalIF":0.0,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Witnessing abusive head trauma: Accidents show higher rates of intracranial pathologies than shaking","authors":"Chris Brook","doi":"10.1002/cns3.20084","DOIUrl":"https://doi.org/10.1002/cns3.20084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study aims to determine whether intracranial injuries, such as seizures, encephalopathy, bilateral subdural hematoma (SDH), and severe bilateral retinal hemorrhage (RH), are indicators of abusive head trauma (AHT), particularly in cases involving shaking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data comprising 54 witnessed shaking cases were drawn from two studies in the literature. Data of 100 witnessed accidents comes from the pediBIRN collaboration. Rates of intracranial injuries in cases of unconflicted witnessed accidents are compared to rates in cases of witnessed shaking and also to cases of unconflicted witnessed shaking. Unconflicted is defined as observed by an independent, unbiased witness, or by a potentially biased witness (such as partner) if reported prior to medical examinations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>When all witnessed shaking cases were considered, including potentially biased witnesses, there are higher rates of findings commonly associated with AHT in witnessed accidents than in cases of witnessed shaking, although the difference is only statistically significant for seizures and encephalopathy. When restricted to cases when the witness was unconflicted, the rates of all findings are significantly more common in accidents than in shaking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Accidents result in more severe intracranial pathologies than shaking, aligning with biomechanical studies that have shown that impact exerts greater force on the brain than violent shaking.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"206-211"},"PeriodicalIF":0.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rett syndrome: The Natural History Study journey","authors":"Alan K. Percy,&nbsp;Timothy A. Benke,&nbsp;Eric D. Marsh,&nbsp;Jeffrey L. Neul","doi":"10.1002/cns3.20086","DOIUrl":"https://doi.org/10.1002/cns3.20086","url":null,"abstract":"<p>Understanding clinical features and disease progression of Rett syndrome (RTT) and establishing clinical trial readiness was enhanced by the RTT Natural History Study (NHS). The NHS benefited from two key developments: one, the Orphan Drug Act passed by Congress in 1983 defining criteria for rare disorders in the United States and creating opportunities for pharmaceutical companies to develop products for individuals with rare disorders, and two, the Rare Diseases Act of 2002, which established the National Institutes of Health Office of Rare Diseases and provided research funding. Funding for the RTT and related disorders NHS was obtained in 2003, creating a broad network of experienced clinical investigators across the United States and producing critical results not only for RTT but also for related disorders: <i>CDKL5</i> deficiency disorder, <i>FOXG1</i> disorder, and <i>MECP2</i> duplication syndrome. Longitudinal information from over 1800 participants (more than 1600 diagnosed with RTT) led to multiple reports describing their clinical features and natural progression and identified putative biomarkers and clinical outcome measures. Establishing clinical trial readiness assisted in evaluating the first FDA-approved medication for RTT in 2023 and continues to provide opportunities to develop potentially life-altering therapies. The experiences of the RTT NHS journey provide informative guidance for studying other rare neurological disorders. These lessons include positive features of developing productive collaborations focused on improving lives of people and families with RTT and related disorders, as well as lessons learned through retrospective analysis for improving overall conduct of natural history studies in rare disorders.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"189-205"},"PeriodicalIF":0.0,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary sensory autonomic neuropathy type VI in the age of genetic testing","authors":"Lekshmi Peringassery Sateesh,&nbsp;Pavani Chitamanni,&nbsp;Danielle Akinsanmi,&nbsp;Suman Ghosh,&nbsp;Steven G. Pavlakis,&nbsp;Alexandra Reznikov","doi":"10.1002/cns3.20085","DOIUrl":"https://doi.org/10.1002/cns3.20085","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (<i>DST</i>) gene. We report a novel homozygous alternate transcript mutation in the <i>DST</i> gene causing a severe neonatal form of HSAN VI.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Description</h3>\u0000 \u0000 <p>This baby boy was born with severe hypotonia, respiratory distress, dysmorphic features, and bilateral club feet. Imaging, karyotyping, Prader–Willi assay, spinal muscular atrophy genetic panel and myotonic dystrophy genetic panel were all negative. A comprehensive neuropathy panel detected a homozygous pathogenic variant in the <i>DST</i> gene—alternate transcript NM_015546.4:c.1357G&gt;A (p.Trp4525*). Nerve conduction studies revealed mixed axonal and demyelinating sensorimotor neuropathy, suggesting the possibility of motor involvement in severe forms of this rare condition. The infant ultimately developed sepsis and died from cardiorespiratory arrest. Neuropathological findings of focal and mild spinal nerve axonal degeneration were nonspecific.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Collective analysis of these patients would help to further characterize the spectrum of disease pathology and could provide insight into the neurophysiology and neuropathology of this rare condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"290-294"},"PeriodicalIF":0.0,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ictal shushing behavior in a child with a pilocytic astrocytoma","authors":"Liliana Ladner,&nbsp;Mebratu Daba","doi":"10.1002/cns3.20083","DOIUrl":"https://doi.org/10.1002/cns3.20083","url":null,"abstract":"&lt;p&gt;Pilocytic astrocytomas (PA) are slow-growing gliomas that account for 15% of all central nervous system tumors.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Focal seizures are well-reported sequelae of PAs but present heterogeneously.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; We describe a unique ictal “shushing” behavior in a pediatric patient with a PA of the isthmus of the cingulate gyrus.&lt;/p&gt;&lt;p&gt;This 14-year-old right-handed boy with no significant past medical history presented due to concern for seizures. Three to four months prior, he began experiencing daily episodes of an unusual gesture. During these episodes, he would walk toward his family or friends, place his pointer finger on his lips, and tell them to “shush” without any other vocalizations. He was aware of these episodes as they occurred but incapable of stopping them. Each episode was preceded by abdominal pain, nausea, and dizziness and followed by headaches and sleeping. Vomiting occurred after several episodes. During one episode that occurred while sleeping, his eyes rolled back for one minute, and then he awoke and promptly returned to sleep, but there were no additional seizure manifestations.&lt;/p&gt;&lt;p&gt;A subsequent 2-hour electroencephalogram (EEG) and continuous EEG monitoring were normal. Due to high clinical suspicion of focal seizures with impaired awareness, an MRI of the brain was ordered, and he was prescribed levetiracetam. The MRI demonstrated a lesion within the isthmus of the right cingulate gyrus that was cystic and contained a heterogeneously enhancing mural nodule (Figure 1).&lt;/p&gt;&lt;p&gt;Two days later, the patient underwent surgical resection of the lesion, a PA with eosinophilic granular bodies and Rosenthal fibers on histology. After the operation, he was alert but exhibited left-sided hemineglect and homonymous hemianopsia. Seven months after surgery, he stopped taking his levetiracetam, and the “shushing” behavior did not recur and there were no other seizure manifestations. Subsequent imaging demonstrated no tumor recurrence.&lt;/p&gt;&lt;p&gt;This patient exhibited an unusual ictal “shushing” behavior due to tumor-related epilepsy. Ictal shushing as a manifestation of a focal seizure has not been previously described in a pediatric patient. For pediatric patients with similar behaviors, both focal seizures and PAs should be on the differential.&lt;/p&gt;&lt;p&gt;The location of this patient's lesion in the isthmus of the right cingulate gyrus and its proximity to the temporal lobe may have contributed to his semiology. In patients with mesial temporal sclerosis, seizures arise in the hippocampus and propagate to the cortex.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; Specifically, impulses from the temporal lobe may propagate through the supplementary motor area to produce index finger pointing in localization-related epilepsy.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; Although similar ictal shushing has been reported as a “hush sign” in two adult patients, this report highlights the first presentation in a pediatric patient with a focal lesion.&lt;span&gt;&lt;su","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"248-250"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20083","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Opioid neurotoxicity: A case series and review from members of the Child Neurology Society Neurocritical Care Special Interest Group","authors":"Varina L. Boerwinkle,&nbsp;Imani H. Sweatt,&nbsp;Aniela Grzezulkowska,&nbsp;William R. Reuther,&nbsp;Aaron Gelinne,&nbsp;Emilio G. Cediel,&nbsp;Divakar S. Mithal,&nbsp;Carolyn S. Quinsey,&nbsp;Scott W. Elton","doi":"10.1002/cns3.20077","DOIUrl":"10.1002/cns3.20077","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The Child Neurology Society 2023 Annual Meeting Neurocritical Care Special Interest Group discussed pediatric opioid use–associated neurotoxicity with cerebellar edema (POUNCE). Inspired by the discussion and the suspicion of an underrecognized severe form of the disorder, we provide a case series and literature review on this important and emerging topic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The meeting was moderated by coauthor DSM, with formal presentation by coauthor AG, and supplemented with a supporting case by coauthor VLB. The attendees, by show of hand, were queried for experience with direct care of children in the critical care unit with neurotoxicity from opioid exposure. These meeting elements informed our literature review and case series.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A key focus of the meeting was the importance of interdisciplinary communication regarding POUNCE, emphasizing the necessity for neurosurgical assessment due to mass effect. Approximately 10 of 40 attendees, representing different US hospitals, reported caring for children with opioid neurotoxicity and concern for increased intracranial pressure. Described during the meeting was a 2-year-old girl with opioid exposure, rapidly worsening neurological exam, and transforaminal herniation concerning for severe POUNCE syndrome and impact on brain networks by resting-state functional magnetic resonanance imaging (rs-MRI). After surgical decompression did not improve her neurological function, she underwent rs-MRI, electroencephalogram, and MRI. The networks indicated better neurological function than the exam, consistent with outcome. In contrast, the second patient, was an 11-month-old boy with fentanyl exposure who was treated for opioid overdose and closely monitored clinically. He did not require surgical intervention and has recovered well.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These patients add to the few publications documenting the management of POUNCE, which may require urgent posterior cranial fossa decompression, and highlight the potential for good outcomes. Additionally, this is the first report documenting rs-fMRI for this condition, which was consistent with the patient's outcome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"225-234"},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141657849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Saccade and pupil changes in children recovering from opsoclonus-myoclonus ataxia syndrome reveal midbrain alterations in oculomotor circuits","authors":"Douglas P. Munoz,&nbsp;Brian J. White,&nbsp;Donald C. Brien,&nbsp;Kajaal Parbhoo,&nbsp;Carmen Yea,&nbsp;E. Ann Yeh","doi":"10.1002/cns3.20078","DOIUrl":"10.1002/cns3.20078","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study measured eye movements in children with a history of opsoclonus-myoclonus ataxia syndrome in order to identify abnormalities in saccade and pupil behavior that map onto specific alterations in brainstem pathways.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used video-based eye tracking while participants freely viewed 10 min of short (2–4 s) video clips without instructions. Clip transitions represented a large visual perturbation and we quantified multiple characteristics of saccade and pupil responses following these transitions in 13 children recovering from opsoclonus-myoclonus and 13 healthy, age-matched control participants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The frequency of saccades and distribution of fixation durations differed between the groups. Following the clip transitions, children recovering from opsoclonus-myoclonus ataxia syndrome exhibited longer time to initiate saccades, leading to a delay in harvesting visual information. Clip transitions to lighter clips produced similar pupil constriction responses in the two groups. However, clip transitions to darker clips produced dilation responses that were initiated earlier and of greater magnitude in opsoclonus-myoclonus ataxia syndrome, suggesting removal or suppression of a signal that delays dilation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Children with a history of opsoclonus-myoclonus ataxia syndrome demonstrated key abnormalities in saccade and pupil metrics. We propose a novel hypothesis in which dysfunction in the pathway from the superior colliculus to the mesencephalic and pontine reticular formation that houses the saccade and pupil premotor circuits could produce these results.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"212-224"},"PeriodicalIF":0.0,"publicationDate":"2024-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20078","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141671789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent encephalitis and stroke following cessation of acyclovir prophylaxis in a patient with neonatal herpes simplex virus with RNF213 mutation","authors":"Rutu M. Dave,&nbsp;Janetta Arellano,&nbsp;Charles Grose,&nbsp;Rachel Pearson","doi":"10.1002/cns3.20079","DOIUrl":"https://doi.org/10.1002/cns3.20079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Herpes simplex virus (HSV) encephalitis can be associated with many secondary neurological complications, but having multiple episodes of recurrent neurological complications is rare in an individual. Understanding the course of each complication can reduce time to diagnosis and adequate treatment. Additionally, we postulate the role of <i>RNF213</i> mutation in HSV susceptibility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We describe a unique presentation of HSV-1 encephalitis in an infant with a pathogenic <i>RNF213</i> mutation who went on to develop multiple rare neurological complications over the course of her illness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our patient was first diagnosed with neonatal HSV-1 encephalitis at age 2 weeks. She had recurrence of HSV encephalitis (HSE) with associated vasculopathy that led to right middle cerebral artery and posterior cerebral artery infarctions at 13 months, and then later developed post-HSE anti-<i>N</i>-methyl-\u0000<span>d</span>-aspartate receptor encephalitis. All of this occurred concomitant with <i>RNF213</i> mutation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This patient demonstrates that, though rare, multiple neurological complications can occur in a single person, thus highlighting the importance of close surveillance of patients with a history of neonatal HSE and pursuing a broad differential in patients with subtle or recurrent symptoms. Furthermore, we propose a potential role of <i>RNF213</i> mutation in the pathogenesis of our patient's multiple medical conditions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"235-241"},"PeriodicalIF":0.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LMNA-related muscular dystrophy presenting as an inflammatory myopathy","authors":"Alexandra Santana Almansa,&nbsp;Stephen M. Chrzanowski,&nbsp;Farrah Rajabi,&nbsp;Megan Day-Lewis,&nbsp;Pui Y. Lee,&nbsp;Hart G. W. Lidov,&nbsp;Laura L. Lehman,&nbsp;Leslie H. Hayes","doi":"10.1002/cns3.20075","DOIUrl":"https://doi.org/10.1002/cns3.20075","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods/Results</h3>\u0000 \u0000 <p>A 12-year-old girl diagnosed with juvenile dermatomyositis as a child presented with cardiac failure and was found to have an <i>LMNA</i> likely pathogenic variant, with a phenotype most consistent with Emery–Dreifuss muscular dystrophy type 2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The spectrum of clinical features of <i>LMNA</i>-related muscular dystrophies can mimic or present with inflammatory myopathy-like features. Early identification of <i>LMNA</i>-related muscular dystrophies is crucial to ensure appropriate cardiac screening and prevent devastating cardiac complications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"242-247"},"PeriodicalIF":0.0,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare and devastating etiology of febrile seizure","authors":"Shermila Pia,&nbsp;Elizabeth Stackhouse,&nbsp;Shehanaz Ellika","doi":"10.1002/cns3.20080","DOIUrl":"https://doi.org/10.1002/cns3.20080","url":null,"abstract":"&lt;p&gt;This 21-month-old boy with a history of multiple febrile seizures presented in refractory febrile status epilepticus. He had rhinorrhea and cough and tested positive for influenza type A. Cerebrospinal fluid analysis showed an elevated protein of 49 mg/dL (reference 10–32 mg/dL) with normal cells, glucose, lactate, meningitis/encephalitis, and autoimmune encephalitis panels. Magnetic resonance imaging revealed T2 hyperintensity, diffusion restriction, and susceptibility signal loss involving the bilateral cerebral cortices, cerebral white matter, thalami, basal ganglia, cerebellum, and brainstem (Figure 1). Metabolic screening and rapid whole-genome sequencing including &lt;i&gt;RANBP2&lt;/i&gt; were unrevealing.&lt;/p&gt;&lt;p&gt;He was diagnosed with acute necrotizing encephalopathy (ANE) due to influenza A. He was treated with intravenous immunoglobulin (IVIG) and high-dose methylprednisolone. His course was complicated by severe paroxysmal sympathetic hyperactivity and prolonged hypoxic respiratory failure. Two months after the initial presentation, he had cortical blindness, diffuse spasticity, and dystonia without purposeful movements.&lt;/p&gt;&lt;p&gt;ANE is a rare but severe parainfectious disorder predominantly occuring in the pediatric age group and is associated with significant neurological morbidity and mortality.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; First described in 1997,&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; ANE typically presents with seizure and encephalopathy concomitant with viral illness. Influenza type A is the most commonly identified pathogen,&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; but many others have been implicated. More recently, familial/genetic ANE has been reported in association with pathogenic variants in &lt;i&gt;RANBP2&lt;/i&gt;, and genetic testing is now recommended in the evaluation of these patients.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; Radiographically, ANE is characterized by symmetric T2 hyperintensity, diffusion restriction, and susceptibility signal loss in bilateral cerebral cortices, thalami, basal ganglia, cerebral white matter, brainstem, and cerebellar hemispheres.&lt;span&gt;&lt;sup&gt;4, 5&lt;/sup&gt;&lt;/span&gt; A characteristic trilaminar pattern of diffusion restriction on the apparent diffusion coefficient map in the thalami is specific for ANE,&lt;span&gt;&lt;sup&gt;4, 5&lt;/sup&gt;&lt;/span&gt; with the core demonstrating high signal intensity, pericore showing low signal intensity, and peripheral zone of high signal intensity, corresponding with pathologic findings of hemorrhagic necrosis in the core, pericore cytotoxic edema, and perilesional vasogenic edema.&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt; The prognosis is poor, with less than 10% full recovery, nearly 30% mortality, and significant neurological morbidity in survivors.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; Early treatment with high-dose steroids is associated with improved outcomes.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Shermila Pia&lt;/b&gt;: Conceptualization; writing—original draft; writing—review &amp; editing. &lt;b&gt;Elizabeth Stackhouse&lt;/b&gt;: Writing—review &amp; editing. &lt;b&gt;Shehanaz Ellika&lt;/b&gt;: Data curation; supervisi","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 3","pages":"251-252"},"PeriodicalIF":0.0,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20080","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}