Brain and Development Case Reports最新文献_第4页

Cerebrospinal fluid leakage after COVID-19: A pediatric case COVID-19 后脑脊液漏：一个儿科病例

Brain and Development Case Reports

Pub Date : 2024-05-22 DOI: 10.1016/j.bdcasr.2024.100019

Rika Tobiume , Yukihiko Konishi , Kosuke Koyano , Shinji Nakamura , Sae Nishisho , Takayuki Wakabayashi , Noriko Fuke , Ami Mizuo , Takuma Iwaki , Takashi Kusaka

Background

Various neurological and psychiatric symptoms have emerged after infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which is the virus that causes coronavirus disease 2019 (COVID-19). These symptoms include exercise intolerance such as muscle weakness, fatigue, and pain as well as cognitive and mood disorders (brain fog). Further, frequent autonomic disorders such as hypotension and hypothermia have been recognized in adults and children, many of whom have been diagnosed with orthostatic dysregulation (OD). Some children with OD have developed cerebrospinal fluid leakage (CFL).

Case Presentation

Herein, we describe the case of a boy aged 9 years and 9 months who presented with orthostatic headaches, dizziness, and nausea. He was diagnosed with CFL after SARS-CoV-2 infection when a spinal MRI revealed an incomplete floating dural sac sign in the thoracic and lumbar spine. An epidural saline injection was administered, and he was discharged after his symptoms improved.

Discussion/Conclusion

The causes of CFL include trauma due to accidents or sports, or are idiopathic due to unknown causes. However, the onset of CFL might involve COVID-19. Understanding the relationship between COVID-19 and CFL onset may lead to better treatment outcomes for children with apparent symptoms of OD, such as orthostatic headaches, dizziness, and nausea, after contracting COVID-19.

背景感染严重急性呼吸系统综合征冠状病毒 2（SARS-CoV-2）（即导致 2019 年冠状病毒病（COVID-19）的病毒）后，出现了各种神经和精神症状。这些症状包括运动不耐受，如肌肉无力、疲劳和疼痛，以及认知和情绪障碍（脑雾）。此外，成人和儿童经常出现低血压和低体温等自律神经失调，其中许多人被诊断为正张力失调（OD）。在此，我们描述了一个 9 岁零 9 个月的男孩的病例，他出现了正位性头痛、头晕和恶心。他在感染 SARS-CoV-2 后，脊柱磁共振成像显示胸椎和腰椎有不完整的硬膜囊漂浮征，因此被诊断为 CFL。讨论/结论 CFL 的病因包括事故或运动造成的外伤，或原因不明的特发性病因。然而，CFL的发病可能与COVID-19有关。了解 COVID-19 与 CFL 发病之间的关系，可能会为感染 COVID-19 后出现正压性头痛、头晕和恶心等明显 OD 症状的儿童带来更好的治疗效果。

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引用次数: 0

Dramatic benzodiazepine receptor downregulation observed in holoprosencephaly with drug-resistant epilepsy 在伴有耐药性癫痫的全脑畸形中观察到苯并二氮杂卓受体的急剧下调

Brain and Development Case Reports

Pub Date : 2024-05-21 DOI: 10.1016/j.bdcasr.2024.100020

Kousuke Nakamura , Sayaka Ishii , Kei Tamaru , Takeshi Inukai , Masao Aihara , Yoshimi Kaga

Background

Holoprosencephaly (HPE), a central nervous system malformation caused by a defect in the separation of cerebral hemispheres during development, is associated with drug-resistant epilepsy. Animal studies on HPE have suggested its association with dysplasia of the inhibitory interneurons in the cerebral cortex; however, this association has not been reported in patients with HPE. In this study, we presented cases of three children with HPE who were examined for the distribution of benzodiazepine receptors, which are receptors of the inhibitory system, using ¹²³I-iomazenil single-photon emission computed tomography (SPECT).

Case presentation

All three children had drug-resistant epilepsy with frequent daily seizures. ^99mTc ethyl cysteinate dimer (ECD) SPECT and ¹²³I-iomazenil SPECT were performed to evaluate the epileptogenicity. ^99mTc ECD SPECT showed generalized only cerebral hypoperfusion, and ¹²³I-iomazenil SPECT showed widespread benzodiazepine receptor depression in the cerebrum, thalamus, and brainstem. Although, benzodiazepines, including clonazepam, clobazam, and lorazepam have limited effects on epileptic seizures, the addition of levetiracetam led to the reduction in seizure frequency in all three patients.

Conclusion

The SPECT findings in children with HPE suggested a defect in the development of GABAergic-benzodiazepinergic inhibitory neurons, especially in the thalamus and brainstem. Therefore, it is inferred that conventional antiepileptic drugs that potentiate the mechanisms of inhibitory neurons are less effective. Agents, with alternative mechanisms of action may be useful for the treatment of refractory epilepsy.

背景颅脑发育不全（HPE）是一种中枢神经系统畸形，由发育过程中大脑半球分离缺陷引起，与耐药性癫痫有关。有关 HPE 的动物实验表明，HPE 与大脑皮层抑制性中间神经元发育不良有关；然而，在 HPE 患者中还没有这种关联的报道。在本研究中，我们利用 123I-iomazenil 单光子发射计算机断层扫描（SPECT）对三名 HPE 患儿的苯二氮卓受体（抑制系统受体）分布情况进行了检查。为了评估致痫性，他们接受了99m锝半胱氨酸乙二酯（ECD）SPECT和123I-碘马泽尼SPECT检查。99mTc 乙半胱氨酸二聚体（ECD）SPECT 显示患者只有全身性脑灌注不足，而 123I-iomazenil SPECT 则显示大脑、丘脑和脑干存在广泛的苯并二氮杂卓受体抑制。尽管包括氯硝西泮、氯巴泮和劳拉西泮在内的苯二氮卓类药物对癫痫发作的影响有限，但加入左乙拉西坦后，三名患者的癫痫发作频率均有所降低。因此，可以推断增强抑制性神经元机制的传统抗癫痫药物效果较差。具有其他作用机制的药物可能有助于治疗难治性癫痫。

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引用次数: 0

Progress in cardiorespiratory fitness and motor coordination skills in children with attention-deficit/hyperactivity disorder with easy fatigue and physical inactivity due to the side effects of guanfacine extended-release 因服用胍法辛缓释片的副作用而容易疲劳和缺乏运动的注意力缺陷/多动障碍儿童在心肺功能和运动协调能力方面的进步

Brain and Development Case Reports

Pub Date : 2024-04-30 DOI: 10.1016/j.bdcasr.2024.100017

Ken Kikuchi , Midori Hayashi , Manami Honda

Introduction

Guanfacine extended-release (GXR), a medication administered to treat attention-deficit/hyperactivity disorder (ADHD), demonstrates side effects, including hypotension, bradycardia, sedation, and somnolence. Children with ADHD with easy fatigue and physical inactivity caused by these side effects have been reported in clinical practice. ADHD medications improve motor function in the short term. Herein, we report the progress in cardiorespiratory fitness (CRF) and motor function of children with ADHD with easy fatigue and physical inactivity after GXR treatment.

Case presentation

A 7-year-old patient with ADHD began to demonstrate marked fatigue and physical inactivity after taking GXR. His treatment was then combined with physical therapy which was continued once a month for approximately one year and included a treadmill exercise test (10-minute walk with a multistep load protocol of 3.0–8.0 km/h) and instruction in motor coordination skills, including home exercises. The GXR dose was increased approximately every 9–10 months, considering the weight and increasing problems at home. Motor coordination skills improved immediately after the increased GXR dose, and the CRF progressed well as the effect of medication subsided.

Discussion/Conclusion

Fatigue and physical inactivity should be considered in exercise therapy in combination with GXR administration. Thus, combined exercise therapy and medication that considers CRF and skill acquisition status may be effective for children with ADHD.

导言胍法辛缓释片（GXR）是一种治疗注意力缺陷/多动障碍（ADHD）的药物，具有低血压、心动过缓、镇静和嗜睡等副作用。在临床实践中，有报道称患有多动症的儿童因这些副作用而容易疲劳和不爱运动。多动症药物可在短期内改善运动功能。病例介绍一位 7 岁的多动症患者在服用 GXR 后开始表现出明显的疲劳和肢体不活动。随后，他接受了物理治疗，治疗持续了大约一年，每月一次，包括跑步机运动测试（10 分钟步行，3.0-8.0 公里/小时的多步负重方案）和运动协调技能指导，包括家庭练习。考虑到体重和家庭问题的增加，GXR 的剂量大约每 9-10 个月增加一次。增加 GXR 剂量后，运动协调能力立即得到改善，随着药物效果的减弱，CRF 进展良好。因此，考虑到CRF和技能掌握情况的运动疗法与药物治疗相结合，可能对多动症儿童有效。

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引用次数: 0

ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability ATP1A3 可能导致遗传性痉挛性截瘫：一名下肢痉挛和智力障碍患者的病例报告

Brain and Development Case Reports

Pub Date : 2024-04-23 DOI: 10.1016/j.bdcasr.2024.100016

Satomi Okano , Yoshio Makita , Yuki Ueda , Akie Miyamoto , Hajime Tanaka , Kumiko Yanagi , Tadashi Kaname

Background

Sodium/potassium (Na⁺/K⁺) ATPase is a heteromeric protein complex responsible for maintaining the Na⁺/K⁺ electrochemical gradient across the neuronal plasma membrane. The α₃ isoform of the Na⁺/K⁺ ATPase, encoded by ATP1A3, acts as a rescue pump and is predominantly present in the neurons of the central nervous system. The de novo variants of ATP1A3 cause several distinct neurological syndromes.

Case

We presented the case of a boy with no family history of neurological diseases who was harboring a de novo pathogenic variation, NM_152296:c.974G > T, p.Gly325Val, in ATP1A3. He presented with a rare spastic paraplegia of the lower extremities, autism spectrum disorder, and intellectual disability.

Discussion and conclusion

Previous studies have demonstrated the ATP1A3 variant p.Gly325 to be pathogenic for dystonia, face dysmorphia, encephalopathy, brain magnetic resonance imaging abnormalities, and no hemiplegia. A recent study has revealed, for the first time, the development of spastic paraplegia as a manifestation of the de novo ATP1A3 p.Pro775Leu pathogenic variant. In this case report, we concluded that another de novo pathogenic variation in ATP1A3, p.Gly325Val, manifests as spastic paraplegia and intellectual disability in the index patient. These results suggest that ATP1A3 is a novel causative gene of hereditary spastic paraplegia.

背景钠/钾（Na+/K+）ATP酶是一种异构蛋白复合物，负责维持神经元质膜上的Na+/K+电化学梯度。由 ATP1A3 编码的 Na+/K+ ATPase 的 α3 异构体是一种救援泵，主要存在于中枢神经系统的神经元中。ATP1A3 的新生变异可导致几种不同的神经系统综合征。本病例中，一名无神经系统疾病家族史的男孩携带 ATP1A3 的新生致病变异 NM_152296:c.974G>T,p.Gly325Val。讨论与结论以往的研究表明，ATP1A3变异p.Gly325是肌张力障碍、面部畸形、脑病、脑磁共振成像异常的致病基因，但没有出现偏瘫。最近的一项研究首次发现，痉挛性截瘫的发生是新生 ATP1A3 p.Pro775Leu 致病变异体的一种表现。在这一病例报告中，我们得出结论，ATP1A3 的另一个从头致病变异 p.Gly325Val 在该例患者中表现为痉挛性截瘫和智力残疾。这些结果表明，ATP1A3 是遗传性痉挛性截瘫的新型致病基因。

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引用次数: 0

A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy 一例通过临床猜测驱动的靶向DNA测序诊断出的SCN8A相关发育性癫痫脑病，钠通道阻滞剂联合疗法缓解了癫痫症状

Brain and Development Case Reports

Pub Date : 2024-04-11 DOI: 10.1016/j.bdcasr.2024.100015

Yoshitaka Mitsui , Hitoshi Sato , Sumihito Togi , Hiroki Ura , Yo Niida

Background

SCN8A-related epilepsy and/or neurodevelopmental disorders encompass a very broad spectrum of phenotypes. The most severe form, SCN8A developmental and epileptic encephalopathy (DEE), develops intractable epilepsy from early infancy and can lead to sudden death. Early diagnosis and therapeutic intervention are essential, but diagnosis is based on genetic testing and definitive diagnosis is often delayed.

Case report

A 4-month-old girl presented with intractable epilepsy. Most antiepileptic drugs were ineffective, but high doses of phenytoin suppressed seizures, so a sodium channelopathy was suspected and targeted DNA sequencing was performed, which revealed a pathogenic missense variant Val1315Met in the SCN8A gene. Based on the diagnosis, combination therapy with sodium channel blockers (SCBs) was initiated and the seizures resolved.

Conclusion

We experienced SCN8A-DEE, which led to early diagnosis based on clinical course and improved prognosis. It is noteworthy that even when the effect of a single SCB is insufficient, as in this case, combination therapy can lead to seizure free in SCN8A-DEE.

背景SCN8A相关癫痫和/或神经发育障碍包括非常广泛的表型。最严重的形式是 SCN8A 发育性癫痫脑病（DEE），从婴儿早期就会出现难治性癫痫，并可能导致猝死。早期诊断和治疗干预是至关重要的，但诊断是以基因检测为基础的，明确诊断往往被延迟。大多数抗癫痫药物无效，但大剂量苯妥英可抑制癫痫发作，因此怀疑是钠通道病变，并进行了有针对性的 DNA 测序，结果发现 SCN8A 基因中存在致病性错义变异 Val1315Met。根据诊断结果，患者开始接受钠通道阻滞剂（SCBs）联合治疗，癫痫发作得到缓解。值得注意的是，即使像本病例一样单用一种钠通道阻滞剂效果不佳，联合治疗也能使 SCN8A-DEE 不再发作。

{"title":"A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy","authors":"Yoshitaka Mitsui , Hitoshi Sato , Sumihito Togi , Hiroki Ura , Yo Niida","doi":"10.1016/j.bdcasr.2024.100015","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100015","url":null,"abstract":"<div><h3>Background</h3><p><em>SCN8A</em>-related epilepsy and/or neurodevelopmental disorders encompass a very broad spectrum of phenotypes. The most severe form, <em>SCN8A</em> developmental and epileptic encephalopathy (DEE), develops intractable epilepsy from early infancy and can lead to sudden death. Early diagnosis and therapeutic intervention are essential, but diagnosis is based on genetic testing and definitive diagnosis is often delayed.</p></div><div><h3>Case report</h3><p>A 4-month-old girl presented with intractable epilepsy. Most antiepileptic drugs were ineffective, but high doses of phenytoin suppressed seizures, so a sodium channelopathy was suspected and targeted DNA sequencing was performed, which revealed a pathogenic missense variant Val1315Met in the <em>SCN8A</em> gene. Based on the diagnosis, combination therapy with sodium channel blockers (SCBs) was initiated and the seizures resolved.</p></div><div><h3>Conclusion</h3><p>We experienced SCN8A-DEE, which led to early diagnosis based on clinical course and improved prognosis. It is noteworthy that even when the effect of a single SCB is insufficient, as in this case, combination therapy can lead to seizure free in <em>SCN8A</em>-DEE.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000114/pdfft?md5=c2b03afa5c9c502e8a31a1152be803d9&pid=1-s2.0-S2950221724000114-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140546103","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

Long-term follow-up case of 14q12 deletion syndrome: A case report 14q12 缺失综合征的长期随访病例：病例报告

Brain and Development Case Reports

Pub Date : 2024-04-05 DOI: 10.1016/j.bdcasr.2024.100013

Yu Aihara , Noriko Sumitomo , Yuko Shimizu-Motohashi , Ken Inoue , Yu-ichi Goto , Hirofumi Komaki

Background

14q12 deletion syndrome is characterized by hypotonia, postnatal microcephaly, intellectual disability, epilepsy, involuntary movements, and loss of corpus callosum. Reported cases described only the childhood period, resulting in the scarcity of information on its long-term clinical course up to adulthood.

Case presentation

We herein present a 40-year-old man with 14q12 deletion. He has never acquired head control and speech and is bedridden with spastic quadriplegia, joint contractures, scoliosis, and chorea. During the first few years, functional movements were observed, which gradually disappeared. Brain magnetic resonance imaging revealed partial hypoplasia of the corpus callosum. At 19 years, a feeding tube was placed, and at 21 years, tracheostomy was introduced due to recurrent aspiration pneumonia. Although the patient experienced tonic seizures from infancy, they disappeared at 20 years of age. Microarray comparative genomic hybridization (CGH) test at age 40 confirmed a 3.95-Mb heterozygous deletion on 14q12, encompassing FOXG1, NOVA1, C14orf23, and PRKD1. The deletion was considered to be the cause of this case.

Conclusion

The present case describes the characteristic features and long-term clinical course of a patient with 14q12 deletion syndrome. Health issues associated with dysphagia and respiration could be prominent in the mid- to late teens, and seizures may be less problematic at adulthood.

背景14q12缺失综合征以肌张力低下、出生后小头畸形、智力障碍、癫痫、不自主运动和胼胝体缺失为特征。已报道的病例仅描述了儿童期的情况，因此有关该病直至成年期的长期临床过程的资料很少。他从未学会控制头部和说话，因痉挛性四肢瘫痪、关节挛缩、脊柱侧弯和舞蹈症而卧床不起。在最初几年，他曾有过功能性运动，但后来逐渐消失。脑磁共振成像显示胼胝体部分发育不良。19 岁时，患者被安置了喂食管，21 岁时，由于反复出现吸入性肺炎，患者被实施了气管切开术。虽然患者从婴儿期开始就有强直性癫痫发作，但在 20 岁时这种症状消失了。40岁时进行的微阵列比较基因组杂交（CGH）检测证实，14q12上有一个3.95兆的杂合缺失，包括FOXG1、NOVA1、C14orf23和PRKD1。本病例描述了一名 14q12 缺失综合征患者的特征和长期临床过程。与吞咽困难和呼吸困难相关的健康问题可能在十几岁中后期比较突出，而癫痫发作可能在成年后问题较少。

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引用次数: 0

First reported pediatric case of left internal carotid artery stenosis in myelin oligodendrocyte glycoprotein antibody-associated disease 首例报道的髓鞘少突胶质细胞糖蛋白抗体相关疾病左侧颈内动脉狭窄儿科病例

Brain and Development Case Reports

Pub Date : 2024-04-03 DOI: 10.1016/j.bdcasr.2024.100014

Eri Hasegawa , Jun Kubota , Taku Gomi , Shuntaro Terayama , Taiki Homma , Haruna Suzuki , Yoichi Takemasa , Ryota Saito , Kenta Horimukai , Noriko Takahata

Background

Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) mimics the clinical and imaging findings of small-vessel central nervous system (CNS) angiitis. An adult case of MOGAD causing right middle cerebral artery stenosis was reported in 2023. Here, we present the first reported pediatric case of left internal carotid artery stenosis in a patient with MOGAD.

Case presentation

A previously healthy 13-year-old boy presented with a two-day history of fever and headache. He experienced sudden focal-onset impaired awareness tonic seizures on the right side, with right ocular deviation. Seizure activity ceased within 5 min, but unconsciousness and paralysis of the right face and right upper extremity persisted on admission. There were no other abnormal neurological findings. Blood tests revealed mildly elevated levels of inflammatory markers. Cerebrospinal fluid examination revealed a normal protein level of 39.3 mg/dL but an elevated cell count of 154/µL and an oligoclonal band. Fluid-attenuated inversion recovery MRI sequences revealed hyperintensities in the left basal ganglia and left frontoparietal cortex. Magnetic resonance angiography revealed left internal carotid artery stenosis. Subsequently, MOGAD was diagnosed based on a positive MOG antibody test result. He received three courses of methylprednisolone pulse therapy followed by oral prednisolone for 10 weeks. His symptoms, parenchymal brain lesions, and vascular stenosis all improved with treatment.

Discussion/Conclusion

MOGAD may be associated with vascular stenosis by inducing a perivascular immune response. MOGAD may mimic CNS angiitis, including that of medium- and large-sized vessels. The presence of vascular stenosis does not rule out MOGAD.

背景髓鞘少突胶质细胞糖蛋白（MOG）抗体相关疾病（MOGAD）模仿小血管中枢神经系统（CNS）血管炎的临床和影像学表现。2023 年报道了一例 MOGAD 导致右侧大脑中动脉狭窄的成人病例。在此，我们介绍首例MOGAD患者左侧颈内动脉狭窄的儿科病例。病例介绍一名之前身体健康的13岁男孩，两天前出现发热和头痛。他突然出现右侧局灶性意识障碍强直发作，伴右眼偏斜。发作活动在 5 分钟内停止，但入院时仍昏迷不醒，右脸和右上肢瘫痪。神经系统没有其他异常发现。血液检查显示炎症标志物水平轻度升高。脑脊液检查显示蛋白质水平正常，为 39.3 mg/dL，但细胞计数升高至 154 个/μL，并出现一条寡克隆带。体液减弱反转恢复磁共振成像序列显示左侧基底节和左侧额顶叶皮层高密度。磁共振血管造影显示左侧颈内动脉狭窄。随后，根据 MOG 抗体检测阳性结果，他被诊断为 MOGAD。他接受了三个疗程的甲基强的松龙脉冲治疗，随后口服强的松龙10周。讨论/结论MOGAD可能通过诱导血管周围免疫反应而与血管狭窄有关。MOGAD 可模拟中枢神经系统血管炎，包括中型和大型血管炎。血管狭窄的存在并不能排除 MOGAD 的可能性。

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引用次数: 0

Paraneoplastic neurological syndromes presenting with paraneoplastic ptosis in an infant with acute lymphoblastic leukemia: A case report 患有急性淋巴细胞白血病的婴儿出现副肿瘤性上睑下垂的副肿瘤性神经综合征：病例报告

Brain and Development Case Reports

Pub Date : 2024-03-14 DOI: 10.1016/j.bdcasr.2024.100011

Eri Ohashi, Itaru Hayakawa, Yuichi Abe

Background

Paraneoplastic neurological syndromes (PNS) are rare in children. Unlike adults, children present with a variety of atypical neurological symptoms that are difficult to diagnose. Consequently, PNS remains an underrecognized disorder. Nevertheless, appropriate immunomodulatory therapy is crucial for neurological prognosis and should not be overlooked. We report a case in which intravenous immunoglobulin therapy effectively treated PNS while treating leukemia.

Case report

A 1.5-year-old girl with B-cell precursor acute lymphoblastic leukemia was referred to our neurology department with ptosis that developed 6 weeks after leukemia treatment and worsened over 8 days. Neurological evaluation revealed normal pupils, no ocular paralysis, no proximal muscle weakness, normal tendon reflexes, and no autonomic neuropathy. Cerebrospinal fluid and brain magnetic resonance imaging findings were normal. Antibodies against the acetylcholine receptor and P/Q-type voltage-gated calcium channels were negative. Low- and high-frequency repetitive median nerve stimulation tests revealed normal findings. We suspected PNS at the neuromuscular junction due to the persistent ptosis that occurred during leukemia treatment. Intravenous immunoglobulin therapy was effective, and ptosis disappeared after 2 weeks. The patient received standard chemotherapy for leukemia, and the ptosis did not relapse for 1 year.

Conclusion

Persistent ptosis in cancer patients requires appropriate evaluation and extensive differentiation for myasthenic syndrome. Timely treatment with immunomodulatory therapy improves neurological prognosis when PNS is suspected.

背景副肿瘤性神经综合征（PNS）在儿童中非常罕见。与成人不同，儿童会出现各种非典型神经症状，难以诊断。因此，PNS 仍是一种未得到充分认识的疾病。然而，适当的免疫调节治疗对神经系统的预后至关重要，不容忽视。我们报告了一例在治疗白血病的同时通过静脉注射免疫球蛋白有效治疗 PNS 的病例。病例报告一名患有 B 细胞前体急性淋巴细胞白血病的 1.5 岁女孩因眼睑下垂转诊至我院神经内科，她在白血病治疗 6 周后出现眼睑下垂，并在 8 天后病情恶化。神经系统评估显示瞳孔正常，无眼球麻痹，无近端肌无力，腱反射正常，无自主神经病变。脑脊液和脑磁共振成像结果正常。乙酰胆碱受体和P/Q型电压门控钙通道抗体呈阴性。低频和高频重复性正中神经刺激测试结果显示正常。由于白血病治疗期间出现持续性上睑下垂，我们怀疑是神经肌肉接头处的 PNS。静脉注射免疫球蛋白治疗有效，眼睑下垂在两周后消失。患者接受了标准的白血病化疗，眼睑下垂在 1 年内没有复发。结论癌症患者出现持续性上睑下垂需要进行适当的评估，并与肌无力综合征进行广泛鉴别。如果怀疑存在肌无力综合征，及时进行免疫调节治疗可改善神经系统的预后。

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引用次数: 0

Electroencephalographic features in a case of hypersomnia due to an optic nerve glioma 一例视神经胶质瘤导致的嗜睡症的脑电图特征

Brain and Development Case Reports

Pub Date : 2024-03-14 DOI: 10.1016/j.bdcasr.2024.100010

Azusa Shinozaki , Norimichi Higurashi , Haruka Takami , Takaya Honda , Erika Hiwatari , Takaaki Yanagisawa , Takashi Kanbayashi

Background

Orexin is secreted in the lateral hypothalamic area and is essential for wakefulness. Impaired secretion of orexin in patients with hypothalamic lesions results in secondary hypersomnia. However, reports on the EEG features of secondary hypersomnia are limited.

Case presentation

A 16-year-old boy experienced hypersomnia, cognitive impairment, and memory deficits during maintenance treatment for an optic nerve glioma involving the optic chiasm. Brain MRI revealed that the tumor had enlarged beyond the suprasellar region and compressed the hypothalamus, midbrain, suprasellar nucleus, and basal forebrain. EEG recording during hypersomnia showed repetitive high-voltage, frontal dominant delta wave bursts regardless of whether the patient was sleeping or awake, indistinct sleep humps and spindles, and disruption of sleep architecture. Additional chemotherapy alleviated the hypersomnia, and delta wave bursts were no longer observed on EEG. Orexin levels in the cerebrospinal fluid were extremely low on admission but increased after the disappearance of hypersomnia.

Discussion and Conclusion

Hypersomnia in this case may be associated not only with impaired orexin production due to hypothalamic lesions, but also with dysfunction of the other arousal networks, including the basal forebrain and brainstem. The association between repetitive high-voltage delta wave bursts on EEG and secondary hypersomnia has not been previously described. Although the pathophysiological basis remains unclear, the damage to such multiple wake-promoting networks may be involved in the characteristic EEG finding.

背景奥曲肽在下丘脑外侧区域分泌，对觉醒至关重要。下丘脑病变患者的奥曲肽分泌受损会导致继发性嗜睡症。病例介绍一名 16 岁男孩在接受视神经胶质瘤（累及视交叉）的维持治疗期间出现嗜睡、认知功能障碍和记忆力减退。脑部核磁共振成像显示，肿瘤已扩大到鞍上区域以外，并压迫了下丘脑、中脑、鞍上核和基底前脑。嗜睡症期间的脑电图记录显示，无论患者是睡着还是醒着，都会出现重复的高电压、前额占主导地位的德尔塔波爆发，睡眠驼峰和棘波模糊不清，睡眠结构紊乱。额外的化疗缓解了嗜睡症，脑电图上也不再出现德尔塔波阵。入院时脑脊液中的奥曲肽水平极低，但嗜睡症消失后奥曲肽水平有所上升。讨论与结论该病例的嗜睡症可能不仅与下丘脑病变导致的奥曲肽分泌受损有关，还与包括基底前脑和脑干在内的其他唤醒网络功能障碍有关。脑电图上重复出现的高压三角波阵列与继发性嗜睡症之间的联系以前从未描述过。虽然其病理生理基础尚不清楚，但这种多重唤醒促进网络的损伤可能与特征性脑电图发现有关。

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引用次数: 0

Delayed visual improvement in a pediatric patient with anti-AQP4 antibody-positive neuromyelitis optica spectrum disorder after acute immunomodulatory treatment: A case report 一名抗 AQP4 抗体阳性的神经脊髓炎视网膜频谱紊乱儿科患者在接受急性免疫调节治疗后视力改善延迟：病例报告

Brain and Development Case Reports

Pub Date : 2024-03-13 DOI: 10.1016/j.bdcasr.2024.100012

Megumi Yonekawa , Makoto Nishioka , Shiori Yazawa , Manami Yabe , Tsubasa Murase , Daisuke Matsuoka , Toru Kurokawa , Tetsuhiro fukuyama

Background

Neuromyelitis optica spectrum disorder (NMOSD) requires early therapeutic intervention to prevent relapse and further complications. Studies in adult patients with steroid-resistant NMOSD have indicated that the duration between disease onset and plasma exchange (PE) initiation significantly impacts prognosis, and that symptoms resolve within one month after PE in most cases. However, research assessing the prognostic factors of pediatric NMOSD is limited.

Case presentation

We report a 14-year-old boy presenting with progressive visual loss in the left eye and diagnosed with anti-aquaporin-4 antibody-positive NMOSD four months after symptom onset. As the patient proved steroid resistant, PE was performed seven times per month over a three-month period. Although his vision initially continued to deteriorate, magnetic resonance imaging indicated optic nerve lesion regression by the third month of PE. Gradual improvement in visual acuity was observed following combined maintenance treatment with prednisolone and satralizumab from three months after completing acute-phase treatment.

Conclusion

Despite the delayed initiation of PE and lack of initial response, acute-phase treatment can contribute to the recovery of visual acuity, which has significant implications, particularly in pediatric NMOSD cases.

背景脊髓灰质炎视谱系障碍（NMOSD）需要早期治疗干预，以防止复发和进一步的并发症。对类固醇耐药的成人 NMOSD 患者进行的研究表明，发病与开始血浆置换（PE）之间的持续时间对预后有很大影响，而且大多数病例的症状在 PE 后一个月内缓解。我们报告了一名 14 岁男孩的病例，他出现左眼进行性视力下降，在症状出现四个月后被诊断为抗喹诺酮-4 抗体阳性的 NMOSD。由于患者对类固醇耐药，在三个月的时间里，每月进行七次 PE。虽然他的视力起初持续恶化，但磁共振成像显示，在进行 PE 的第三个月，视神经病变已经消退。在完成急性期治疗三个月后，泼尼松龙和沙妥珠单抗联合维持治疗后，患者的视力逐渐得到改善。结论尽管开始 PE 的时间较晚且缺乏初始反应，但急性期治疗有助于视力的恢复，这具有重要意义，尤其是在儿童 NMOSD 病例中。

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引用次数: 0