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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

Introduction

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.

Case report

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.

Conclusion

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.

导言：肌阵挛综合征（OMS）是一种罕见的神经系统疾病，表现为肌阵挛、共济失调或肌阵挛、行为改变或睡眠障碍。认知和行为障碍是 OMS 儿童患者最常见的后遗症。OMS患者的脑脊液（CSF）B细胞计数常常升高，这被认为是疾病活动的生物标志物，可能是选择最佳治疗方法的重要指标。病例报告：一名1岁5个月大的男孩被诊断为副肿瘤性OMS，发病3个月后开始接受免疫疗法，静脉注射免疫球蛋白和地塞米松（DEX）脉冲疗法。一个疗程的DEX脉冲治疗后，由于症状恶化，他又开始接受利妥昔单抗（RTX）治疗，结果OMS评分量表得分达到13分。开始接受 RTX 治疗两周后，患者的症状开始好转，5 个月后可以行走。在接受 RTX 治疗前，脑脊液中 B 细胞的比例为 10.7%，但在开始 RTX 治疗 3 个月后，这一比例降至 0.16%。患者在发病 12 个月后病情得到缓解，并且没有复发。如果能更早使用 RTX，病情本可以更快缓解。应积极对 OMS 患者进行 CSF 淋巴细胞亚群分析，因为它是 RTX 导入的潜在指标。

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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

Introduction

Cranial nerve deficits are a rare but described complication of infection in the deep spaces of the neck and their optimal management remains unclear.

Case report

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.

Conclusion

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.

导言颅神经缺损是一种罕见的颈部深间隙感染并发症，但其最佳治疗方法仍不明确。病例报告我们介绍了一名 15 岁男性患者的病例和临床症状，该患者在咽后脓肿的情况下出现多发性颅神经缺损。结论我们认为，本病例强调了与颈深间隙感染相关的颅多发性神经病应采取综合治疗方法，如果最大限度的药物治疗无效，应特别考虑手术减压。

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

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

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。

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引用次数: 0

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

Background

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.

背景虽然GRIN2A相关疾病与儿童癫痫伴心颞区棘波、Landau-Kleffner综合征、慢波睡眠中的连续棘波和波形、非典型罗兰性癫痫和语言障碍有关，但这些疾病的临床表现范围很广。我们报告了一名患有 GRIN2A 相关疾病的患者，该患者发育严重迟缓，主要表现为不自主运动。患者从 2 个月大开始就表现出每日阵发性不自主运动和异常眼球运动。异常眼球运动通常不对称，类似眼球运动危象。为了排除遗传性单胺类神经递质紊乱的可能性，对脑脊液中的神经递质水平进行了测量，结果显示大致正常。目前，患者患有严重的精神运动发育迟缓，不会说话，不能行走，缺乏独立的头部控制能力，并且卧床不起。全外显子组测序发现，GRIN2A基因存在一个新发杂合错义变异（NM_001134407.3:c.1904C >T,p.(Ala635Val)）。该患者的表型非常严重，与遗传性单胺类神经递质紊乱相似。对于怀疑患有遗传性单胺类神经递质紊乱的患者，应考虑与GRIN2A相关的疾病。

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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

Background

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.

背景非典型抗精神病药物通常用于控制与自闭症谱系障碍（ASD）相关的攻击性和情绪不稳定性，但也可能导致严重的副作用，如迟发性肌张力障碍（TD），这是一种通常不可逆的迟发性运动障碍亚型。垂头综合征（DHS）是锥体外系障碍的一种罕见表现，也可能是颈部肌张力障碍的一种罕见形式。病例介绍一名患有严重自闭症和智力障碍的 15 岁男子接受了利培酮（1 毫克/天）治疗，以控制冲动和攻击行为。治疗 2 个月后，患者开始出现 DHS 症状、活动减少和缺乏面部表情。根据观察到的肌张力障碍症状波动，由于停用利培酮 2 个月后症状仍然存在，患者开始接受超低剂量左旋多巴治疗（VLDT；0.5-1 毫克/千克/天）。值得注意的是，患者的面部表情、活动水平和颈部控制能力在两天内均有所改善。讨论和结论：本病例是 DHS 的一种非典型表现，即使短期使用低剂量非典型抗精神病药物，也会出现早发性 TD，这表明多巴胺能系统易受影响。因此，临床医生在使用非典型抗精神病药物治疗 ASD 时应谨慎，并警惕 TD 的发展。此外，肌张力障碍症状的波动性和对VLDT的快速反应表明，该病与多巴反应性肌张力障碍有相似之处，这为类似临床情况下的难治性疾病提供了潜在的治疗途径。

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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

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。

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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

Background

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.

背景急性脑病伴双相癫痫发作和晚期弥散功能减退（AESD）通常表现为发热性癫痫发作重叠和数天后的癫痫发作集群；然而，有关癫痫发作灶定位的信息却很少。右侧大脑半球的动脉自旋标记（ASL）结果也发生了相应的变化，但左侧额叶的血流持续增强，提示存在其他病变。

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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

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.

导言SCN2A突变与广泛的表型谱有关，其中包括发育性和癫痫性脑病（DEE），通常不伴有任何脑部结构上的对应症状。病例描述我们报告了一名2个月大的婴儿发生超级难治性癫痫状态（SRSE）的病例，该婴儿出生时出现难治性新生儿癫痫发作，原因是双侧广泛的多小脑和皮质发育不良。在接受 SRSE 治疗后，他对钠通道阻滞剂苯妥英产生了根本性的反应，癫痫发作完全缓解，并且在两年的随访期间一直没有癫痫发作。研究发现了一个 SCN2A 致病变异体，预测其具有功能增益效应。值得注意的是，新生儿发作期的脑磁共振成像结果显示出缺氧迹象，并伴有细胞毒性和血管源性水肿，与发作期的定位相对应。这些变化在 2 个月大时重复进行 SRSE 期间的脑磁共振成像检查时没有观察到，这或许表明在 SCN2A 变异的情况下，新生儿对缺氧的脆弱性增加，而这种脆弱性会随着时间的推移而发生改变。结论：我们的病例报告强调了在出现仅由结构性原因引起的难治性癫痫发作时，挑战我们的临床管理的重要性，基因检测为治疗管理提供了关键的见解。

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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

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.

背景右美沙芬（DXM）是一种常用的抗惊厥药物。病例报告一名 14 岁的日本女性在癫痫发作后昏迷不醒，被转诊到我院急诊科。她没有癫痫或精神病史。最初，昏迷和癫痫发作的根本原因并不清楚。然而，在她的书包里发现了几包用过的 DXM，怀疑是用药过量所致。患者被诊断为 DXM 药物过量。神经行为症状无需特殊治疗即可缓解。血液和脑脊液中的 DXM 浓度分别为 830 纳克/毫升和 320 纳克/毫升。

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引用次数: 0