Brain and Development Case Reports最新文献

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Pediatric Opsoclonus myoclonus syndrome with improvement of symptoms and decrease in cerebrospinal fluid B cell percentage after Rituxmab administration: Case report 使用利妥昔单抗后症状改善、脑脊液 B 细胞比例下降的小儿 Opsoclonus 肌阵挛综合征:病例报告
Brain and Development Case Reports Pub Date : 2024-09-10 DOI: 10.1016/j.bdcasr.2024.100037
Eri Inoue , Sae Nishisho , Noriko Fuke , Takayuki Wakabayashi , Yukihiko Konishi , Takashi Kusaka
{"title":"Pediatric Opsoclonus myoclonus syndrome with improvement of symptoms and decrease in cerebrospinal fluid B cell percentage after Rituxmab administration: Case report","authors":"Eri Inoue ,&nbsp;Sae Nishisho ,&nbsp;Noriko Fuke ,&nbsp;Takayuki Wakabayashi ,&nbsp;Yukihiko Konishi ,&nbsp;Takashi Kusaka","doi":"10.1016/j.bdcasr.2024.100037","DOIUrl":"10.1016/j.bdcasr.2024.100037","url":null,"abstract":"<div><h3>Introduction</h3><p>Opsoclonus myoclonus syndrome (OMS) is a rare neurological disorder that presents with opsoclonus, ataxia or myoclonus, behavioral changes, or sleep disturbances. Cognitive and behavioral deficits are the most problematic sequelae in pediatric patients with OMS. Patients with OMS often have increased cerebrospinal fluid (CSF) B cell counts, which are considered a biomarker of disease activity and may be an important indicator in selecting optimal treatment.</p></div><div><h3>Case report</h3><p>A 1-year-and-5-month-old boy diagnosed with paraneoplastic OMS was started on immunotherapy with intravenous immunoglobulin and dexamethasone (DEX) pulse therapy 3 months after disease onset. After one course of DEX pulse therapy, rituximab (RTX) was added due to a worsening of symptoms, resulting in an OMS Rating Scale score of 13. Two weeks after starting RTX therapy, the patient's symptoms started to improve, and he was able to walk 5 months later. The percentage of B cells in the CSF was 10.7 % before the introduction of RTX therapy but decreased to 0.16 % 3 months after starting RTX therapy. The patient achieved remission 12 months after the disease onset and had no recurrence.</p></div><div><h3>Conclusion</h3><p>The high percentage of B-cells in the patient's CSF indicated severe disease activity. Remission could have been achieved sooner if RTX had been administered earlier. CSF lymphocyte subset analysis should be performed aggressively in OMS as it is a potential indicator for RTX introduction.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100037"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000333/pdfft?md5=7d9f9ef0bdf7851f1dc683fc7ae070c9&pid=1-s2.0-S2950221724000333-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162283","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}
引用次数: 0
Cranial polyneuropathy secondary to retropharyngeal abscess in an adolescent: Multidisciplinary management and clinical resolution 一名青少年继发于咽后脓肿的头颅多发性神经病:多学科管理和临床解决方案
Brain and Development Case Reports Pub Date : 2024-09-10 DOI: 10.1016/j.bdcasr.2024.100035
Timothy Mathieson , Alexandre Piletta-Zanin , Serge Daniel Le Bon , Basile Nicolas Landis , Hélène Cao Van , Christian Korff
{"title":"Cranial polyneuropathy secondary to retropharyngeal abscess in an adolescent: Multidisciplinary management and clinical resolution","authors":"Timothy Mathieson ,&nbsp;Alexandre Piletta-Zanin ,&nbsp;Serge Daniel Le Bon ,&nbsp;Basile Nicolas Landis ,&nbsp;Hélène Cao Van ,&nbsp;Christian Korff","doi":"10.1016/j.bdcasr.2024.100035","DOIUrl":"10.1016/j.bdcasr.2024.100035","url":null,"abstract":"<div><h3>Introduction</h3><p>Cranial nerve deficits are a rare but described complication of infection in the deep spaces of the neck and their optimal management remains unclear.</p></div><div><h3>Case report</h3><p>We present the case and clinical resolution of a fifteen-year-old male with multiple cranial nerve deficits in the setting of a retropharyngeal abscess. Cranial nerve IX involvement was postulated based on gustatory testing and clinical resolution was achieved after surgical management.</p></div><div><h3>Conclusion</h3><p>We believe that this case underscores that cranial polyneuropathy associated with deep neck space infections should warrant a comprehensive approach with specific consideration for surgical decompression if maximal medical treatments fails.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100035"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295022172400031X/pdfft?md5=a5cbe70c4a48df44f7453c45b9f1ef41&pid=1-s2.0-S295022172400031X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162282","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}
引用次数: 0
Editorial comments on “Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation” 关于 "两例被解释为正张力失调的脑脊液低血容量病例 "的编辑评论
Brain and Development Case Reports Pub Date : 2024-09-01 DOI: 10.1016/j.bdcasr.2024.100033
Tomoyuki Akiyama , Shinji Saitoh
{"title":"Editorial comments on “Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation”","authors":"Tomoyuki Akiyama ,&nbsp;Shinji Saitoh","doi":"10.1016/j.bdcasr.2024.100033","DOIUrl":"10.1016/j.bdcasr.2024.100033","url":null,"abstract":"","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100033"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000291/pdfft?md5=677a53890654d6ddeae288c7d700dc8a&pid=1-s2.0-S2950221724000291-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094855","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}
引用次数: 0
Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation 两例脑脊液低血容量病例,曾被解释为正张力失调
Brain and Development Case Reports Pub Date : 2024-09-01 DOI: 10.1016/j.bdcasr.2024.100031
Yuko Ohashi , Tatsuo Fuchigami , Koichi Takahashi
{"title":"Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation","authors":"Yuko Ohashi ,&nbsp;Tatsuo Fuchigami ,&nbsp;Koichi Takahashi","doi":"10.1016/j.bdcasr.2024.100031","DOIUrl":"10.1016/j.bdcasr.2024.100031","url":null,"abstract":"<div><h3>Background</h3><p>Children with cerebrospinal fluid (CSF) hypovolemia can exhibit various symptoms, with the most common ones being headache and vertigo; further, it is often misdiagnosed as orthostatic dysregulation (OD). This article describes two cases of CSF hypovolemia that were interpreted as OD.</p></div><div><h3>Case presentation</h3><p>Both patients, including a previously healthy 13-year-old boy and an 11-year-old girl, presented with orthostatic headaches and participated in sports activities, such as tennis and basketball. Both patients were considered to have OD given their diagnosis of postural orthostatic tachycardia syndrome using a new orthostatic test. However, the symptoms did not improve after OD treatment; they were diagnosed with CSF hypovolemia based on radioisotope cisternography and computed tomography myelography. Both patients were treated with epidural blood patches (EBPs), which significantly improved their prognoses.</p></div><div><h3>Discussion and conclusion</h3><p>We report two cases of cerebrospinal fluid hypovolemia that improved with treatment with EBP. When a patient is diagnosed with OD and shows no response to lifestyle guidance and medication, considering cerebrospinal fluid hypovolemia as one of the differential diseases is essential.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100031"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000278/pdfft?md5=4cc686da4c5a4541d7e74a97c25e65f3&pid=1-s2.0-S2950221724000278-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094856","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}
引用次数: 0
GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement 与 GRIN2A 相关的疾病会导致深度发育迟缓和运动障碍
Brain and Development Case Reports Pub Date : 2024-08-13 DOI: 10.1016/j.bdcasr.2024.100034
Kazuo Kubota , Takuya Hiraide , Mina Nakama , Miho Adachi , Mitsuko Nakashima , Hirotomo Saitsu , Hidenori Ohnishi
{"title":"GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement","authors":"Kazuo Kubota ,&nbsp;Takuya Hiraide ,&nbsp;Mina Nakama ,&nbsp;Miho Adachi ,&nbsp;Mitsuko Nakashima ,&nbsp;Hirotomo Saitsu ,&nbsp;Hidenori Ohnishi","doi":"10.1016/j.bdcasr.2024.100034","DOIUrl":"10.1016/j.bdcasr.2024.100034","url":null,"abstract":"<div><h3>Background</h3><p>Although <em>GRIN2A</em>-related disorders are associated with childhood epilepsy with centrotemporal spikes, Landau-Kleffner syndrome, continuous spike and wave during slow wave sleep, atypical rolandic epilepsy, and speech impairment, the clinical spectrum of these disorders is broad. We report a patient with <em>GRIN2A</em>-related disorder with profound developmental delay and predominantly involuntary movement<strong>.</strong></p></div><div><h3>Case presentation</h3><p>The patient had been vomiting frequently because of gastric volvulus. He exhibited daily paroxysmal involuntary movements and abnormal eye movements from 2 months of age. The abnormal eye movements were often asymmetrical and resembled oculogyric crisis. To rule out inherited monoamine neurotransmitter disorders, neurotransmitter levels in the cerebrospinal fluid were measured, which showed approximately normal results. Currently, the patient suffers from profound psychomotor developmental delay, is nonverbal and non-ambulatory, lacks independent head control, and is bedridden. Whole exome sequencing revealed a <em>de novo</em> heterozygous missense variant (NM_001134407.3:c.1904C &gt; T, p.(Ala635Val)) in the <em>GRIN2A</em> gene.</p></div><div><h3>Conclusion</h3><p>A missense variant of <em>GRIN2A</em> caused profound developmental delay and a disorder predominantly affecting movement. The patient's phenotype was very severe and was similar to that of an inherited monoamine neurotransmitter disorder. <em>GRIN2A</em>-related disorders should be considered in patients with suspected inherited monoamine neurotransmitter disorders.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100034"},"PeriodicalIF":0.0,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000308/pdfft?md5=859bab46a85f44a5192566f7f36813f9&pid=1-s2.0-S2950221724000308-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141979479","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}
引用次数: 0
A case of autism successfully treated with very-low-dose levodopa for early-onset antipsychotic-induced tardive movement disorder manifested by dropped head syndrome 用极低剂量左旋多巴治疗早发抗精神病药物诱发的迟发性运动障碍(表现为垂头综合征),成功治愈一例自闭症患者
Brain and Development Case Reports Pub Date : 2024-07-23 DOI: 10.1016/j.bdcasr.2024.100030
Keiho Owada , Shuhei Ide , Akiko Shibata , Masakazu Mimaki
{"title":"A case of autism successfully treated with very-low-dose levodopa for early-onset antipsychotic-induced tardive movement disorder manifested by dropped head syndrome","authors":"Keiho Owada ,&nbsp;Shuhei Ide ,&nbsp;Akiko Shibata ,&nbsp;Masakazu Mimaki","doi":"10.1016/j.bdcasr.2024.100030","DOIUrl":"10.1016/j.bdcasr.2024.100030","url":null,"abstract":"<div><h3>Background</h3><p>Atypical antipsychotics, often used to manage aggressiveness and mood instability associated with autism spectrum disorder (ASD), can cause severe side effects, such as tardive dystonia (TD), an often irreversible tardive movement disorder subtype. Dropped head syndrome (DHS), a rare manifestation of extrapyramidal disorders, may also represent a rare form of neck TD.</p></div><div><h3>Case Presentation</h3><p>A 15-year-old man with severe autism and intellectual disability was prescribed risperidone (1 mg/day) to manage impulsive and aggressive behaviors. After 2 months of treatment, the patient started showing DHS symptoms, diminished activity, and lack of facial expressions. Based on the observed fluctuation of dystonic symptoms, very-low-dose levodopa therapy (VLDT; 0.5–1 mg/kg/day) was started due to the persistence of symptoms 2 months after discontinuing risperidone. Remarkably, the patient showed improved facial expression, activity levels, and neck control within 2 days. After 7 months of treatment, the patient maintained complete improvement in overall symptoms.</p></div><div><h3>Discussion and Conclusion</h3><p>This case presented an atypical manifestation of DHS, with early-onset TD even after short-term exposure to low-dose atypical antipsychotics, indicating susceptibility of the dopaminergic system. Thus, clinicians should be cautious in the administration of atypical antipsychotics for ASD and vigilant in monitoring TD development. Furthermore, the fluctuation in dystonic symptoms and rapid response to VLDT indicate similarities to dopa-responsive dystonia, highlighting a potential therapeutic avenue for refractory conditions in similar clinical scenarios.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100030"},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000266/pdfft?md5=5843eebb1d7ac0f20167eb1d7c3709cf&pid=1-s2.0-S2950221724000266-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141949640","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}
引用次数: 0
Case Report: Successful complete open corpus callosotomy for refractory epilepsy in Rett syndrome 病例报告:成功实施完全开放式胼胝体切开术治疗雷特综合征难治性癫痫
Brain and Development Case Reports Pub Date : 2024-07-23 DOI: 10.1016/j.bdcasr.2024.100032
Anita N. Datta , Mandeep Tamber
{"title":"Case Report: Successful complete open corpus callosotomy for refractory epilepsy in Rett syndrome","authors":"Anita N. Datta ,&nbsp;Mandeep Tamber","doi":"10.1016/j.bdcasr.2024.100032","DOIUrl":"10.1016/j.bdcasr.2024.100032","url":null,"abstract":"<div><h3>Background</h3><p>Rett syndrome (RTT) is a neurodevelopmental disorder that occurs primarily in females and is characterized by rapid regression of acquired skills, including language and purposeful hand movements. Epilepsy affects 50–90 % of RTT patients, with approximately a third of patients having drug resistant epilepsy. Any seizure type can occur in individuals with RTT.</p></div><div><h3>Case presentation</h3><p>We present here a unique case of a 13-year-old girl with RTT and drug-resistant epileptic spasms and tonic seizures who underwent a complete open corpus callosotomy (CC) to reduce seizure burden. After surgery, she had a significant reduction in seizures, seizure-related hospitalizations, and use of seizure rescue medication, resulting in improved quality of life. Post-operatively, she experienced parkinsonism symptoms, that fully resolved, and may be related to a transient disconnection syndrome.</p></div><div><h3>Discussion/Conclusion</h3><p>For patients with Rett syndrome with drug-resistant seizures with rapid bi-hemispheric spread, a complete CC can be considered as a treatment option to reduce seizure burden. At present, CC in RTT is not well documented in the literature.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100032"},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295022172400028X/pdfft?md5=b8d650a05c27e50d221621329da57f1e&pid=1-s2.0-S295022172400028X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141949639","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}
引用次数: 0
AESD due to COVID-19 with shifting seizure focus laterality between early and late seizure, accompanied by characteristic blood flow signal changes on MRI 由 COVID-19 引起的 AESD,发作早期和晚期发作病灶偏侧,伴有磁共振成像上特征性的血流信号变化
Brain and Development Case Reports Pub Date : 2024-07-01 DOI: 10.1016/j.bdcasr.2024.100029
Kei Morota , Ryo Sugitate , Natsuki Yagi , Atsushi Matsui , Tomomi Ogata , Kazuhiro Muramatsu
{"title":"AESD due to COVID-19 with shifting seizure focus laterality between early and late seizure, accompanied by characteristic blood flow signal changes on MRI","authors":"Kei Morota ,&nbsp;Ryo Sugitate ,&nbsp;Natsuki Yagi ,&nbsp;Atsushi Matsui ,&nbsp;Tomomi Ogata ,&nbsp;Kazuhiro Muramatsu","doi":"10.1016/j.bdcasr.2024.100029","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100029","url":null,"abstract":"<div><h3>Background</h3><p>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) commonly presents with febrile seizure overlap and clusters of seizures several days later; however, information on the localization of seizure foci is scarce.</p></div><div><h3>Case presentation</h3><p>We present the case of a 6-year-old child who initially presented with seizures of the right upper and lower extremities as early seizures, but later, the focus of her seizure clusters shifted to the left upper extremity as late seizures. Arterial spin labeling (ASL) findings in the right cerebral hemisphere changed accordingly, but blood flow in the left frontal lobe was consistently enhanced, suggesting the presence of additional pathology.</p></div><div><h3>Conclusion</h3><p>This case expands our understanding of evolving seizure patterns in AESD and highlights the potential of ASL to elucidate its complex pathophysiology.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100029"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000254/pdfft?md5=c801c4d9be98994ab828eac68b8070c0&pid=1-s2.0-S2950221724000254-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141487026","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}
引用次数: 0
SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia 患有双侧多畸形和厣肌发育不良的婴儿的 SCN2A 发育和癫痫性脑病
Brain and Development Case Reports Pub Date : 2024-06-26 DOI: 10.1016/j.bdcasr.2024.100028
Joana Sa de Almeida , Joel Fluss , Méryle Laurent , Lina Quteineh , Christian Korff , Stéphanie Garcia-Tarodo
{"title":"SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia","authors":"Joana Sa de Almeida ,&nbsp;Joel Fluss ,&nbsp;Méryle Laurent ,&nbsp;Lina Quteineh ,&nbsp;Christian Korff ,&nbsp;Stéphanie Garcia-Tarodo","doi":"10.1016/j.bdcasr.2024.100028","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100028","url":null,"abstract":"<div><h3>Introduction</h3><p><em>SCN2A</em> mutations have been associated with a wide phenotypic spectrum that includes, among others, developmental and epileptic encephalopathy (DEE), usually not associated with any brain structural counterpart.</p></div><div><h3>Case description</h3><p>We report the occurrence of a super-refractory status epilepticus (SRSE) in a 2-month-old infant, who presented at birth with refractory neonatal seizures attributed to an extensive bilateral polymicrogyria and cortical dysplasia. Upon his SRSE, he responded radically to the sodium-channel blocker phenytoin with complete seizure resolution and has remained seizure free during the 2-year follow-up period. A <em>SCN2A</em> pathogenic variant was found with predicted gain-of-function effect. Notably, brain MRI findings during the neonatal ictal phase showed signs of hypoxia with cytotoxic and vasogenic oedema, corresponding to the ictal localisation. These changes were not observed upon repetition of the brain MRI during the SRSE at 2 months of age, perhaps suggesting increased neonatal vulnerability to hypoxia in the presence of an <em>SCN2A</em> variant, that modifies over time.</p></div><div><h3>Conclusion</h3><p>Our case report highlights the importance of challenging our clinical management in the presence of refractory seizures attributed solely to a structural cause, with genetic testing providing a key insight for therapeutic management.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100028"},"PeriodicalIF":0.0,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000242/pdfft?md5=acd6b0f0752adfd6fc446be128364292&pid=1-s2.0-S2950221724000242-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141486917","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}
引用次数: 0
Seizure and coma with overdose dextromethorphan: A case report 过量使用右美沙芬导致癫痫发作和昏迷:病例报告
Brain and Development Case Reports Pub Date : 2024-06-21 DOI: 10.1016/j.bdcasr.2024.100027
Ken Nakano , Shingo Numoto , Akihisa Okumura , Kazuhiro Hirata , Sachie Kaneko , Yoichiro Oro
{"title":"Seizure and coma with overdose dextromethorphan: A case report","authors":"Ken Nakano ,&nbsp;Shingo Numoto ,&nbsp;Akihisa Okumura ,&nbsp;Kazuhiro Hirata ,&nbsp;Sachie Kaneko ,&nbsp;Yoichiro Oro","doi":"10.1016/j.bdcasr.2024.100027","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100027","url":null,"abstract":"<div><h3>Background</h3><p>Dextromethorphan (DXM) is a commonly used anti-tussive drug. DXM overdose can elicit neurobehavioral effects, such as hallucinations, stimulation, euphoria, and dissociation, and rarely cause seizures or coma.</p></div><div><h3>Case report</h3><p>A 14-year-old Japanese female was referred to the emergency department of our hospital in a coma following a seizure. She had no history of epilepsy or psychiatric diseases. Initially, the underlying causes of the coma and seizures were unclear. However, several used DXM packages were found in her school bag, and an overdose was suspected. The patient was diagnosed with DXM overdose. The neurobehavioral symptoms resolved without specific treatments. DXM concentrations in the blood and cerebrospinal fluid were 830 and 320 ng/mL, respectively.</p></div><div><h3>Conclusion</h3><p>The possibility of DXM overdose should be considered in patients admitted with seizures or comas of unknown cause.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100027"},"PeriodicalIF":0.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000230/pdfft?md5=d2dced702be2380a3684a5efc01d3218&pid=1-s2.0-S2950221724000230-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141439165","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}
引用次数: 0
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