Pub Date : 2024-09-01DOI: 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 , 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}
Pub Date : 2024-09-01DOI: 10.1016/j.bdcasr.2024.100031
Yuko Ohashi , Tatsuo Fuchigami , Koichi Takahashi
Background
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.
Case presentation
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.
Discussion and conclusion
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.
背景儿童脑脊液（CSF）血容量不足可表现出各种症状，其中最常见的症状是头痛和眩晕；此外，它还经常被误诊为正张力失调（OD）。本文描述了两例被解释为 OD 的 CSF 低血容量病例。病例介绍两名患者，包括一名原本健康的 13 岁男孩和一名 11 岁女孩，都出现了正张性头痛，并参加了网球和篮球等体育活动。这两名患者均被诊断为体位性正位性心动过速综合征，并使用了一种新的正位试验。然而，OD 治疗后症状并未改善；根据放射性同位素贮液室造影术和计算机断层扫描髓核造影术，他们被诊断为 CSF 低血容量症。讨论与结论我们报告了两例脑脊液低血容量病例，他们在接受硬膜外血贴剂（EBP）治疗后病情均有好转。当患者被诊断为 OD 且对生活方式指导和药物治疗无反应时，将脑脊液低血容量症作为鉴别疾病之一是非常必要的。
{"title":"Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation","authors":"Yuko Ohashi , Tatsuo Fuchigami , 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}
Although GRIN2A-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 GRIN2A-related disorder with profound developmental delay and predominantly involuntary movement.
Case presentation
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 de novo heterozygous missense variant (NM_001134407.3:c.1904C > T, p.(Ala635Val)) in the GRIN2A gene.
Conclusion
A missense variant of GRIN2A 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. GRIN2A-related disorders should be considered in patients with suspected inherited monoamine neurotransmitter disorders.
{"title":"GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement","authors":"Kazuo Kubota , Takuya Hiraide , Mina Nakama , Miho Adachi , Mitsuko Nakashima , Hirotomo Saitsu , 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 > 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}
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.
Case Presentation
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.
Discussion and Conclusion
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.
{"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 , Shuhei Ide , Akiko Shibata , 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}
Pub Date : 2024-07-23DOI: 10.1016/j.bdcasr.2024.100032
Anita N. Datta , Mandeep Tamber
Background
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.
Case presentation
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.
Discussion/Conclusion
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.
背景雷特综合征（RTT）是一种主要发生在女性身上的神经发育障碍，其特点是后天技能迅速退化，包括语言和有目的的手部动作。50%-90%的 RTT 患者患有癫痫，其中约三分之一的患者患有耐药性癫痫。我们在此介绍一例独特的病例：一名 13 岁女孩患有 RTT 并伴有耐药性癫痫痉挛和强直性发作，她接受了完全开放性胼胝体切开术（CC）以减轻发作负担。术后，她的癫痫发作、与癫痫发作相关的住院治疗和癫痫发作抢救药物的使用显著减少，生活质量得到改善。术后，她出现了帕金森症状，但已完全缓解，可能与一过性连接断开综合征有关。讨论/结论对于有耐药性癫痫发作且双大脑半球迅速扩散的 Rett 综合征患者，可以考虑将完全 CC 作为减轻癫痫发作负担的治疗方案。目前，文献中对RTT患者进行CC治疗的记载并不多。
{"title":"Case Report: Successful complete open corpus callosotomy for refractory epilepsy in Rett syndrome","authors":"Anita N. Datta , 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}
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.
Case presentation
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.
Conclusion
This case expands our understanding of evolving seizure patterns in AESD and highlights the potential of ASL to elucidate its complex pathophysiology.
{"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 , Ryo Sugitate , Natsuki Yagi , Atsushi Matsui , Tomomi Ogata , 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}
Pub Date : 2024-06-26DOI: 10.1016/j.bdcasr.2024.100028
Joana Sa de Almeida , Joel Fluss , Méryle Laurent , Lina Quteineh , Christian Korff , Stéphanie Garcia-Tarodo
Introduction
SCN2A 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.
Case description
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 SCN2A 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 SCN2A variant, that modifies over time.
Conclusion
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.
{"title":"SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia","authors":"Joana Sa de Almeida , Joel Fluss , Méryle Laurent , Lina Quteineh , Christian Korff , 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}
Pub Date : 2024-06-21DOI: 10.1016/j.bdcasr.2024.100027
Ken Nakano , Shingo Numoto , Akihisa Okumura , Kazuhiro Hirata , Sachie Kaneko , Yoichiro Oro
Background
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.
Case report
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.
Conclusion
The possibility of DXM overdose should be considered in patients admitted with seizures or comas of unknown cause.
{"title":"Seizure and coma with overdose dextromethorphan: A case report","authors":"Ken Nakano , Shingo Numoto , Akihisa Okumura , Kazuhiro Hirata , Sachie Kaneko , 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}
Pub Date : 2024-06-21DOI: 10.1016/j.bdcasr.2024.100026
Sarah Cellauro , Christian Korff , Maria Brunella Cipullo , Maria Isabel Vargas , Angelo Polito , Tiphaine Corbisier
Background
Spinal cord ischemia (SCI) is a rare but often devastating vascular disorder that may be caused by one of several etiologies and may be challenging to diagnose.
Case presentation
The patient exhibited alarming symptoms, including profound fatigue, altered consciousness, and hypercapnia, necessitating intubation. Notably, urinary retention was present, and initial investigations, including a normal brain computed tomography (CT) scan and lumbar puncture, failed to elucidate the underlying issue. Subsequent spinal magnetic resonance imaging (MRI) revealed a cervical spinal cord T2 hyperintensity, accompanied by signal restriction on diffusion-weighted sequences (DWI), leading to the diagnosis of SCI. Following this, the patient developed left hemiplegia. However, the clinical presentation exhibited a swift improvement, and complete resolution occurred within a week under the administration of intravenous steroids.
Discussion/conclusion
This case underscores the diagnostic challenge posed by SCI, particularly in the pediatric population. The swift response to intravenous steroids suggests a potential inflammatory component, implicating vasospasm or a minor spinal artery lesion. The suspected connection to prior microtrauma to the cervical spine during physical activity highlights the importance of considering vascular complications in the context of sports-related injuries. This report contributes to the understanding of SCI in children and emphasizes the need for heightened awareness among healthcare professionals when encountering similar clinical scenarios.
{"title":"Spinal cord ischemia revealed in the context of altered consciousness: A pediatric case report","authors":"Sarah Cellauro , Christian Korff , Maria Brunella Cipullo , Maria Isabel Vargas , Angelo Polito , Tiphaine Corbisier","doi":"10.1016/j.bdcasr.2024.100026","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100026","url":null,"abstract":"<div><h3>Background</h3><p>Spinal cord ischemia (SCI) is a rare but often devastating vascular disorder that may be caused by one of several etiologies and may be challenging to diagnose.</p></div><div><h3>Case presentation</h3><p>The patient exhibited alarming symptoms, including profound fatigue, altered consciousness, and hypercapnia, necessitating intubation. Notably, urinary retention was present, and initial investigations, including a normal brain computed tomography (CT) scan and lumbar puncture, failed to elucidate the underlying issue. Subsequent spinal magnetic resonance imaging (MRI) revealed a cervical spinal cord T2 hyperintensity, accompanied by signal restriction on diffusion-weighted sequences (DWI), leading to the diagnosis of SCI. Following this, the patient developed left hemiplegia. However, the clinical presentation exhibited a swift improvement, and complete resolution occurred within a week under the administration of intravenous steroids.</p></div><div><h3>Discussion/conclusion</h3><p>This case underscores the diagnostic challenge posed by SCI, particularly in the pediatric population. The swift response to intravenous steroids suggests a potential inflammatory component, implicating vasospasm or a minor spinal artery lesion. The suspected connection to prior microtrauma to the cervical spine during physical activity highlights the importance of considering vascular complications in the context of sports-related injuries. This report contributes to the understanding of SCI in children and emphasizes the need for heightened awareness among healthcare professionals when encountering similar clinical scenarios.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100026"},"PeriodicalIF":0.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000229/pdfft?md5=b6b1044a0a5c3804f4451493534d9fce&pid=1-s2.0-S2950221724000229-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141439164","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}
Pub Date : 2024-06-20DOI: 10.1016/j.bdcasr.2024.100025
Takuya Hiraide , Wakako Yoshioka , Yusuke Ito , Rei Urushibata , Taiju Hayashi , Hidetoshi Ishigaki , Ichizo Nishino , Tokiko Fukuda
Background
RYR1 (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, RYR1 was reported as one of the genes responsible for asymptomatic or paucisymptomatic hyperCKemia.
Case presentation
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>A, p.Glu228Lys) in RYR1. This variant was also detected by Sanger sequencing in another sister and mother with hyperCKemia.
Conclusions
Patients with possible pathogenic variants in RYR1 are at risk for malignant hyperthermia susceptibility and rhabdomyolysis. Genetic analyses, including RYR1 for cases with asymptomatic or paucisymptomatic hyperCKemia may be useful in identifying individuals at potential risk of malignant hyperthermia susceptibility and rhabdomyolysis.
{"title":"Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1","authors":"Takuya Hiraide , Wakako Yoshioka , Yusuke Ito , Rei Urushibata , Taiju Hayashi , Hidetoshi Ishigaki , Ichizo Nishino , 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>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":"2024-06-20","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}
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