Brain and Development Case Reports最新文献

筛选
英文 中文
A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant 一例发育性癫痫性脑病和巨幼红细胞性贫血的拉伸活化离子通道 TMEM63B 变异新病例
Brain and Development Case Reports Pub Date : 2024-12-01 Epub Date: 2024-09-28 DOI: 10.1016/j.bdcasr.2024.100043
Kasumi Sasaki , Mitsuko Nakashima , Yuji Fujii , Shinji Itamura , Hirotomo Saitsu , Mitsuhiro Kato
{"title":"A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant","authors":"Kasumi Sasaki ,&nbsp;Mitsuko Nakashima ,&nbsp;Yuji Fujii ,&nbsp;Shinji Itamura ,&nbsp;Hirotomo Saitsu ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2024.100043","DOIUrl":"10.1016/j.bdcasr.2024.100043","url":null,"abstract":"<div><h3>Background</h3><div><em>TMEM63B</em> encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous <em>TMEM63B</em> variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a <em>TMEM63B</em> variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).</div></div><div><h3>Case presentation</h3><div>A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a <em>de novo</em> heterozygous variant of <em>TMEM63B</em> (NM_018426.3: c.130G &gt; A, p.(Val44Met)), which was classified as pathogenic.</div></div><div><h3>Discussion/Conclusion</h3><div>Although most patients with <em>TMEM63B</em> variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the <em>TMEM63B</em> variant.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100043"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142328033","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 CLCN4-related epilepsy presenting as epilepsy of infancy with migrating focal seizures 一例 CLCN4 相关性癫痫,表现为伴有迁移性局灶性癫痫发作的婴儿期癫痫
Brain and Development Case Reports Pub Date : 2024-12-01 Epub Date: 2024-10-30 DOI: 10.1016/j.bdcasr.2024.100048
Kenta Suzuki , Yuichi Suzuki , Mika Yamada , Maki Nodera , Fuyuki Miya , Mitsuhiro Kato , Mitsuaki Hosoya
{"title":"A case of CLCN4-related epilepsy presenting as epilepsy of infancy with migrating focal seizures","authors":"Kenta Suzuki ,&nbsp;Yuichi Suzuki ,&nbsp;Mika Yamada ,&nbsp;Maki Nodera ,&nbsp;Fuyuki Miya ,&nbsp;Mitsuhiro Kato ,&nbsp;Mitsuaki Hosoya","doi":"10.1016/j.bdcasr.2024.100048","DOIUrl":"10.1016/j.bdcasr.2024.100048","url":null,"abstract":"<div><h3>Background</h3><div><em>CLCN4</em> pathogenic variants cause X-linked intellectual disability and epilepsy. <em>CLCN4</em>-related epilepsy presents with a variety of seizures including absence, tonic, and focal seizures, is refractory to treatments, and is complicated by severe global developmental delay. We herein report a case of epilepsy of infancy with migrating focal seizures (EIMFS) in a male infant with <em>CLCN4</em> variant.</div></div><div><h3>Case presentation</h3><div>The patient was a 3-month-old male with no abnormal perinatal history or family history of epilepsy. Initially, the patient developed convulsive seizures in both upper limbs and the left face, which were refractory to focal epilepsy treatments. Subsequently, a diagnosis of EIMFS was made because the focal sites began to shift from the left hemisphere to the right hemisphere during seizures. The seizures could not be controlled with polytherapy using antiseizure medications, but finally responded to potassium bromide. Whole exome sequencing revealed a novel de novo <em>CLCN4</em> variant, NM_001830.4:c.854A&gt;G,p.(Tyr285Cys).</div></div><div><h3>Discussion/conclusion</h3><div>To date, there have been 24 reported cases of <em>CLCN4</em>-related epilepsy in the world, with only one case of EIMFS, excluding the present case. Additionally, to the best of our knowledge, there have been no previous reports that included a detailed clinical course of a case of <em>CLCN4</em>-related epilepsy showing EIMFS. Further studies with accumulation of clinical cases are needed to understand the pathophysiology of <em>CLCN4</em>-related epilepsy, as well as to establish treatment methods.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100048"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553878","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 female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain 一名患有先天性副肌张力障碍的女性患者。第二部分:SCN4A 对大脑发育的贡献
Brain and Development Case Reports Pub Date : 2024-12-01 Epub Date: 2024-09-28 DOI: 10.1016/j.bdcasr.2024.100042
Yoshie Kurokawa , Karin Kojima , Tomoyuki Ishii , Eriko Jimbo , Hirokazu Yamagishi , Akihiko Miyauchi , Hiroko Wakabayashi , Kazuhiro Muramatsu , Hitoshi Osaka , Takanori Yamagata
{"title":"A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain","authors":"Yoshie Kurokawa ,&nbsp;Karin Kojima ,&nbsp;Tomoyuki Ishii ,&nbsp;Eriko Jimbo ,&nbsp;Hirokazu Yamagishi ,&nbsp;Akihiko Miyauchi ,&nbsp;Hiroko Wakabayashi ,&nbsp;Kazuhiro Muramatsu ,&nbsp;Hitoshi Osaka ,&nbsp;Takanori Yamagata","doi":"10.1016/j.bdcasr.2024.100042","DOIUrl":"10.1016/j.bdcasr.2024.100042","url":null,"abstract":"<div><h3>Background</h3><div><em>SCN4A</em> encodes the α-subunit of the voltage-gated sodium channel Na<sub>V</sub>1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of <em>SCN4A</em>. <em>SCN4A</em> has been considered to be exclusively expressed in muscles, and the brain phenotype has not been reported until recently, including descriptions of essential tremor and epilepsy.</div></div><div><h3>Patient</h3><div>The patient is a 20-year-old woman with PMC by detecting a c.3917G&gt;A, p.(Gly1306Glu) variant in <em>SCN4A</em>. The patient also showed neurological symptoms, such as epilepsy, from 1 year old and intellectual disability (intelligence quotient 48).</div></div><div><h3>Mouse brain</h3><div>We confirmed the Na<sub>V</sub> 1.4 expression in the brain of developing mice, 10 days after birth, immunohistochemically, in the entire cerebral cortex, the olfactory bulb and the midbrain but not in the hippocampus or cerebellum. However, the Na<sub>V</sub> 1.4 expression was not detected in adult mouse cortex.</div></div><div><h3>Discussion</h3><div>Na<sub>V</sub>1.4 was shown to be expressed in the cerebral cortex of young mice but not in adults. Since our patient had shown intellectual disability and epilepsy from infancy, Na<sub>V</sub>1.4 was considered to be involved in the developing brain and cause central nervous system symptom in some situations.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100042"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357595","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 : 2024-09-01 Epub 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":"2024-09-01","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
Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1 与 RYR1 的一个新型错义变异有关的家族性高钙血症和运动诱发的肌痛
Brain and Development Case Reports Pub Date : 2024-09-01 Epub Date: 2024-06-20 DOI: 10.1016/j.bdcasr.2024.100025
Takuya Hiraide , Wakako Yoshioka , Yusuke Ito , Rei Urushibata , Taiju Hayashi , Hidetoshi Ishigaki , Ichizo Nishino , Tokiko Fukuda
{"title":"Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1","authors":"Takuya Hiraide ,&nbsp;Wakako Yoshioka ,&nbsp;Yusuke Ito ,&nbsp;Rei Urushibata ,&nbsp;Taiju Hayashi ,&nbsp;Hidetoshi Ishigaki ,&nbsp;Ichizo Nishino ,&nbsp;Tokiko Fukuda","doi":"10.1016/j.bdcasr.2024.100025","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100025","url":null,"abstract":"<div><h3>Background</h3><p><em>RYR1</em> (ryanodine receptor 1), which functions as a calcium release channel in the sarcoplasmic reticulum and is associated with the susceptibility to malignant hyperthermia and several myopathies. Serum creatine kinase (CK) levels are important for the diagnosis of patients with neuromuscular diseases; however, CK levels can be elevated even in individuals without obvious clinical symptoms. Recently, <em>RYR1</em> was reported as one of the genes responsible for asymptomatic or paucisymptomatic hyperCKemia.</p></div><div><h3>Case presentation</h3><p>Here, we report the case of a family with autosomal dominant hyperCKemia. The fraternal twin sisters complained of exertional myalgia after exercise, such as playing basketball, without evidence of muscle weakness or fatigue. Serum CK levels of the twin sister patients ranged from 642 U/L to 5620 U/L and from 411 U/L to 2609 U/L, respectively. The mother had hyperCKemia (523 U/L) without any neuromuscular symptoms. Muscle biopsy from one of the twin sisters showed no necrotic fibers, several regenerating fibers, and several fibers with internal nuclei. Exome sequencing of the same patient identified a novel, possibly pathogenic variant (NM_000540.3:c.682G&gt;A, p.Glu228Lys) in <em>RYR1</em>. This variant was also detected by Sanger sequencing in another sister and mother with hyperCKemia.</p></div><div><h3>Conclusions</h3><p>Patients with possible pathogenic variants in <em>RYR1</em> are at risk for malignant hyperthermia susceptibility and rhabdomyolysis. Genetic analyses, including <em>RYR1</em> for cases with asymptomatic or paucisymptomatic hyperCKemia may be useful in identifying individuals at potential risk of malignant hyperthermia susceptibility and rhabdomyolysis.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100025"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000217/pdfft?md5=8c96035ab24b1d7f7975017d880a5cb8&pid=1-s2.0-S2950221724000217-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141434373","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 : 2024-09-01 Epub 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":"2024-09-01","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
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 : 2024-09-01 Epub 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":"2024-09-01","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
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 : 2024-09-01 Epub 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":"2024-09-01","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
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 Epub Date: 2024-08-30 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 COVID-19-related hemorrhagic shock and encephalopathy syndrome with different outcomes 两例与COVID-19相关的失血性休克和脑病综合征,结果各不相同
Brain and Development Case Reports Pub Date : 2024-09-01 Epub Date: 2024-06-14 DOI: 10.1016/j.bdcasr.2024.100024
Keiichiro Toma , Kazunori Aoki , Hiroshi Kurosawa , Masahiro Nishiyama , Azusa Maruyama
{"title":"Two cases of COVID-19-related hemorrhagic shock and encephalopathy syndrome with different outcomes","authors":"Keiichiro Toma ,&nbsp;Kazunori Aoki ,&nbsp;Hiroshi Kurosawa ,&nbsp;Masahiro Nishiyama ,&nbsp;Azusa Maruyama","doi":"10.1016/j.bdcasr.2024.100024","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100024","url":null,"abstract":"<div><h3>Background</h3><p>Severe cases due to acute encephalopathy in patients with coronavirus disease 2019 (COVID-19) have been reported. Among acute encephalopathies, the cytokine storm type has a poor prognosis and no established treatment. Here, we describe two cases of COVID-19-related hemorrhagic shock and encephalopathy syndrome (HSES) with different outcomes.</p></div><div><h3>Case presentation</h3><p>Case 1 was a 2-year-11-month-old girl with no medical history. She developed a fever on the first day of the illness and was admitted to our pediatric intensive care unit (PICU) on day two due to status epilepticus. She had refractory shock from arrival, and was diagnosed with HSES. On day three, both pupils were dilated. A brain computed tomography (CT) scan showed diffuse cerebral edema. The electroencephalogram showed electrocerebral inactivity; brainstem reflexes were not observed. The patient died on day 13. Case 2 was a 6-year-old boy with a history of febrile seizures. He developed a fever on the first day of the illness and was admitted to our PICU on day three due to status epilepticus. A brain CT on admission showed cerebral edema. He developed hypotensive shock after admission, and was diagnosed with HSES. He received multidisciplinary treatment, and was extubated on day eight. The patient was diagnosed with HSES and received multidisciplinary treatment. The patient recovered and was extubated on day eight. He was discharged on day 17. Case 2 had a shorter duration of hypotension, temperature management at a lower temperature, and more aggressive anti-seizure medication use.</p></div><div><h3>Conclusion</h3><p>Circulatory stabilization is essential for hypothermia therapy and aggressive anti-seizure medication use, and important in terms of maintaining cerebral circulation. Therefore, early recovery from shock appeared to be the most crucial factor affecting the outcomes of both cases.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100024"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000205/pdfft?md5=a922ff5de39808d41693d7f07094363d&pid=1-s2.0-S2950221724000205-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141324283","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书