Brain and Development Case Reports最新文献_第6页

Au-Kline syndrome with a novel variant in a girl presenting with heat intolerance in the summer: A case report and literature review Au-Kline综合征伴一种新变异的女孩在夏季表现为热不耐：一例报告和文献复习

Brain and Development Case Reports

Pub Date : 2025-04-10 DOI: 10.1016/j.bdcasr.2025.100075

Kazuki Suemune, Hiroshi Yamaguchi, Hiroaki Hanafusa, Ming Juan Ye, Kandai Nozu, Hiroaki Nagase

Background

Au-Kline syndrome (AKS) is characterized by moderate-to-severe intellectual disability, hypotonia, and distinctive characteristic facies. Other features, such as cardiac malformations, feeding difficulties, hydronephrosis, high pain tolerance, recurrent fever, abnormal sweating, and heat intolerance, have also been reported. However, our understanding of the heat tolerance of AKS remains limited.

Objective

We present a rare case of AKS in a 3-year old girl who presented with poor oral intake during the summer due to heat intolerance. Furthermore, we conducted a detailed review of AKS and investigated the extent to which heat intolerance was reported in patients with AKS.

Methods

To evaluate the “heat intolerance” in patients with HNRNPK variants, the literature in English was reviewed for cases reported as patients with HNRNPK variants by searching the PubMed database.

Results

A total of 456 articles were identified. We thoroughly reviewed the abstracts and selected articles describing cases with variants in HNRNPK, including two original articles, eight clinical case reports, and two letters to the editor. The cohort consisted of 23 male and 23 female patients with HNRNPK variants. Seventeen patients harbored missense variants, 27 harbored a truncating variant, and two harbored an intron variant. All variants in all the cases were de novo. In this review, we found no reported cases of heat intolerance.

Conclusion

We identified a novel HNRNPK variant of AKS associated with heat intolerance symptoms caused by abnormal sweating. Whether heat intolerance in AKS is extremely rare or underreported remains unclear, and further investigation is required.

au - kline综合征（AKS）的特点是中重度智力障碍、张力低下和明显的特征相。其他特征，如心脏畸形、进食困难、肾积水、高疼痛耐受性、反复发热、异常出汗和热不耐受，也有报道。然而，我们对AKS耐热性的了解仍然有限。目的我们报告一例罕见的AKS病例，该病例发生在一名3岁的女孩，她在夏季因热不耐受而出现口服摄入不良。此外，我们对AKS进行了详细的回顾，并调查了AKS患者报告的热不耐受程度。方法为了评价HNRNPK变异体患者的“耐热性”，通过检索PubMed数据库，查阅英文文献中报道的HNRNPK变异体患者的病例。结果共鉴定出456篇。我们全面回顾了描述HNRNPK变异病例的摘要和精选文章，包括两篇原创文章、八份临床病例报告和两封致编辑的信。该队列包括23名男性和23名女性HNRNPK变异患者。17例患者携带错义变体，27例携带截断变体，2例携带内含子变体。所有病例的所有变异都是从头开始的。在这篇综述中，我们没有发现热不耐受的病例报告。结论我们发现了一种新的与异常出汗引起的热不耐受症状相关的AKS HNRNPK变异。AKS的热不耐受是否极为罕见或被低估尚不清楚，需要进一步调查。

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引用次数: 0

Alagille syndrome presenting with increased intracranial pressure caused by late-onset craniosynostosis Alagille综合征表现为迟发性颅缝闭闭引起的颅内压增高

Brain and Development Case Reports

Pub Date : 2025-04-03 DOI: 10.1016/j.bdcasr.2025.100074

Toyo Shimizu , Atsuko Harada , Shigeo Kyutoku , Yuki Wada , Yoshinori Kadono , Kazushige Maeno , Eitaro Hiejima , Koichi Ueda , Haruhiko Kishima

Background

Alagille syndrome is characterized by intrahepatic cholestasis and abnormalities in the cardiovascular system, eyes, and vertebrae, along with a characteristic facial appearance. The genes responsible are JAG1 and NOTCH2. Although craniosynostosis occurs in approximately 1 % of patients with Alagille syndrome, its pathogenesis remains unclear. We report a case of Alagille syndrome, with late-onset craniosynostosis, which was associated with JAG1 gene mutation.

Case presentation

A 6 years and 5 months old boy presented with severe headache and vomiting. Magnetic resonance (MR) and computed tomography (CT) imaging revealed cerebellar tonsillar herniation and craniosynostosis of the sagittal, bilateral lambdoid, and coronal sutures. Cranial radiography showed marked digital impressions, and ophthalmological assessment revealed bilateral papilledema and reduced visual acuity, resulting in increased intracranial pressure (ICP). The patient was diagnosed with Alagille syndrome, associated with JAG1 gene mutation (heterozygosis c.1492_1495delAATG p.Asn498Glyfs*65). The same pathogenic variant was confirmed in his mother and sister. Although he had a mild hepatic disorder and pulmonary artery stenosis, he had grown uneventfully without developmental delays or growth disorders. Two weeks after the first visit, wide coronal craniotomy was performed to reduce the ICP. The headache and vomiting disappeared immediately after surgery, and the visual acuity and papilledema gradually improved.

Conclusion

The NOTCH signaling pathway involving JAG1 and NOTCH2 genes interacts with fibroblast growth factor receptors and the TWIST1 gene contributing to syndromic craniosynostosis. It is important to consider the possibility of craniosynostosis and manage increased ICP early in Alagille syndrome, even at school-going age.

dalagille综合征的特征是肝内胆汁淤积，心血管系统、眼睛和椎骨异常，并伴有特征性的面部外观。负责的基因是JAG1和NOTCH2。虽然大约1%的Alagille综合征患者发生颅缝闭锁，但其发病机制尚不清楚。我们报告一例Alagille综合征，迟发性颅缝闭锁，这是与JAG1基因突变有关。病例表现：一名6岁5个月大的男孩出现严重头痛和呕吐。磁共振（MR）和计算机断层扫描（CT）成像显示小脑扁桃体突出和矢状、双侧小羔羊状和冠状缝合的颅缝闭塞。头颅x线摄影显示明显的指印，眼科检查显示双侧乳头水肿和视力下降，导致颅内压（ICP）升高。患者诊断为Alagille综合征，伴JAG1基因突变（杂合子c.1492_1495delAATG p.Asn498Glyfs*65）。在他的母亲和妹妹身上证实了相同的致病变异。虽然他有轻微的肝脏疾病和肺动脉狭窄，但他的成长很顺利，没有发育迟缓或生长障碍。首次就诊两周后，行冠状面宽开颅术以降低颅内压。术后头痛、呕吐立即消失，视力、视乳头水肿逐渐改善。结论NOTCH信号通路涉及JAG1和NOTCH2基因，与成纤维细胞生长因子受体和TWIST1基因相互作用，参与综合征性颅缝闭锁。在Alagille综合征早期，甚至在学龄期，考虑颅缝闭锁的可能性和处理颅内压增高是很重要的。

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引用次数: 0

Bilateral central retinal artery occlusion in a patient with Duchenne muscular dystrophy 杜氏肌营养不良患者双侧视网膜中央动脉闭塞1例

Brain and Development Case Reports

Pub Date : 2025-03-26 DOI: 10.1016/j.bdcasr.2025.100073

Fumihito Nozaki

Background

Central retinal artery occlusion (CRAO) is a rare emergency ophthalmological condition that causes sudden, acute, painless loss of vision. CRAO is a form of acute ischemic stroke and a harbinger of further cerebrovascular and cardiovascular events. We report the first case of Duchenne muscular dystrophy (DMD) patient with bilateral CRAO.

Case presentation

A 29-year-old DMD patient with dilated cardiomyopathy (DCM) presented with sudden, acute, painless loss of vision in the right eye. He was diagnosed with right CRAO by ophthalmological evaluation. Although anterior chamber paracentesis and ocular massage were performed for acute treatment, the patient developed right eye blindness. Due to the absence of thrombus formation, arrhythmia, infection, vasculitis and coagulopathy, antiplatelet therapy was initiated for secondary prevention. One month after the first unilateral CRAO, he developed left CRAO despite antiplatelet therapy.

Conclusions

DMD patients with DCM are at potential risk of cerebral infarction, including CRAO. Due to the potential for devastating and permanent complications from CRAO, clinicians should promptly recognize and treat cerebral infarction, including CRAO, in DMD patients.

背景：视网膜中央动脉闭塞（CRAO）是一种罕见的眼科急症，可导致突然、急性、无痛性视力丧失。CRAO是急性缺血性脑卒中的一种形式，是进一步脑血管和心血管事件的先兆。我们报告第一例杜氏肌营养不良（DMD）患者双侧CRAO。一例29岁的DMD患者合并扩张型心肌病（DCM）表现为右眼突然、急性、无痛性视力丧失。经眼科检查诊断为右眼cro。急性期虽行前房穿刺术及眼部按摩，患者仍发展为右眼失明。由于没有血栓形成、心律失常、感染、血管炎和凝血功能障碍，因此开始抗血小板治疗作为二级预防。在第一次单侧CRAO后一个月，尽管接受了抗血小板治疗，他还是出现了左侧CRAO。结论sdmd合并DCM患者存在包括CRAO在内的脑梗死潜在危险。由于CRAO可能导致破坏性和永久性并发症，临床医生应及时识别和治疗DMD患者的脑梗死，包括CRAO。

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引用次数: 0

Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus 纵向研究脑电图模式与KCNH1突变的儿童显示非癫痫性肌阵挛

Brain and Development Case Reports

Pub Date : 2025-03-24 DOI: 10.1016/j.bdcasr.2025.100069

Takeshi Inoue , Kei Ohashi , Ayako Hattori , Mariko Saito , Tomoshige Tanimura , Daisuke Ieda , Kyoko Ban , Fuyuki Miya , Shinji Saitoh

Introduction

The potassium voltage-gated channel subfamily H member 1 is encoded by the KCNH1 gene. Mutations in KCNH1 result in Temple-Baraitser (TBS) and Zimmermann-Laband (ZLS) syndromes, which are characterized by developmental delay, epilepsy, and nail dysplasia. These syndromes have clinical overlap and are found in patients with atypical TBS/ZLS phenotypic features. Although KCNH1-related diseases are associated with a high incidence of epilepsy, electroencephalogram (EEG) changes over time have not been studied. In this study, we investigated the longitudinal evolution of EEG findings and types of seizures from the neonatal period to 6 years of age in a patient with a KCNH1 variant.

Case report

A 6-year-old girl showed features of KCNH1-related disease. Exome analysis revealed a heterozygous de novo missense variant (NM_172362.3; c.1481T>C; p.Ile494Thr) in KCNH1. She presented generalized tonic-clonic seizures (GTCS) at the age of 3 years and 1 month. She also presented with myoclonus in the neonatal period, determined to be involuntary movement because of the absence of corresponding EEG discharges and persistence. The EEG findings evolved as follows: normal at 1 month of age, multifocal spikes started at 3 months of age, and high-voltage slow waves started at 3 months of age, which initially appeared during awake periods.

Conclusion

Patients with a KCNH1 variant may have GTCS and involuntary movements including myoclonus. Furthermore, high-voltage slow waves in EEG, which are characteristic of patients with KCNH1 variants, were not observed immediately after birth but appeared at several months of age.

钾电压门控通道亚家族H成员1由KCNH1基因编码。KCNH1突变导致坦普尔-巴雷茨（TBS）和齐默曼-拉班（ZLS）综合征，其特征是发育迟缓、癫痫和指甲发育不良。这些综合征具有临床重叠，见于具有非典型TBS/ZLS表型特征的患者。虽然kcnh1相关疾病与癫痫的高发病率相关，但脑电图（EEG）随时间的变化尚未得到研究。在这项研究中，我们调查了一名KCNH1变异患者从新生儿期到6岁的脑电图结果和癫痫发作类型的纵向演变。病例报告：1例6岁女童表现出kcnh1相关疾病的特征。外显子组分析显示一个杂合的新生错义变异(NM_172362.3；c.1481T> C;p.Ile494Thr)在KCNH1中的表达。她在3岁零1个月时出现全身性强直阵挛发作（GTCS）。她还在新生儿期出现肌阵挛，由于没有相应的脑电图放电和持续存在，确定为不自主运动。脑电图表现如下：1月龄时正常，3月龄时开始出现多焦点峰，3月龄时开始出现高压慢波，最初出现在清醒期。结论KCNH1变异患者可能有GTCS和肌阵挛等不自主运动。此外，作为KCNH1变异患者特征的脑电图高电压慢波在出生后并未立即观察到，而是在几个月大时出现。

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引用次数: 0

A case of developmental and epileptic encephalopathy with spike-and-wave activation in sleep with structural etiology treated with corpus callosotomy 结构性病因伴睡眠尖波激活的发展性癫痫性脑病行胼胝体切开术治疗1例

Brain and Development Case Reports

Pub Date : 2025-03-12 DOI: 10.1016/j.bdcasr.2025.100072

Haruka Nakata , Kiyohiro Kim , Shu Hamada , Kengo Kora , Ichiro Kuki , Noritsugu Kunihiro , Takehiro Uda , Toshiro Maihara

Background

Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is often refractory to antiseizure medications and steroids, and a longer disease duration is associated with intellectual disabilities. Surgical treatment is sometimes performed; however, there have been few reports of corpus callosotomy.

Case presentation

The patient was a 5-year-old girl; at 16 months of age, she experienced seizures that began in her left upper limb and then spread throughout her body. Since then, she has had recurrent episodes. Electroencephalography (EEG) revealed spike-and-wave discharges in the right occipital region. Brain magnetic resonance imaging showed right ventricular enlargement and hemosiderin deposition in the right thalamus. Around the age of 3, she became hyperactive and unable to speak. At 4 years of age, atypical absence seizures appeared and EEG during sleep showed continuous generalized spike-and-wave complexes, leading to the diagnosis of DEE-SWAS. At the time of diagnosis, her developmental quotient (DQ) was 51. However, despite medical treatment, including adrenocorticotropic hormone therapy, she was resistant to these interventions, and her DQ decreased to 39 within approximately 1 year. A total corpus callosotomy was performed at the age of 5 years and 5 months. Postoperatively, epileptic seizures were controlled and the epileptiform discharges was lateralized to the right hemisphere. Additionally, developmental improvements were observed, including increased speech and the ability to anticipate the need for defecation.

Conclusion

Early corpus callosotomy can improve seizures and intellectual outcomes in patients with drug-resistant DEE-SWAS with focal lesions that can take time to resolve spontaneously.

发育性和癫痫性脑病伴睡眠峰波激活（DEE-SWAS）通常对抗癫痫药物和类固醇难以治疗，且病程较长与智力残疾有关。有时进行手术治疗；然而，胼胝体切开术的报道很少。患者为一名5岁女童；在16个月大的时候，她经历了癫痫发作，从左上肢开始，然后扩散到全身。从那时起，她就反复发作。脑电图显示右侧枕区有峰波放电。脑磁共振成像显示右心室增大，右丘脑含铁血黄素沉积。大约在3岁时，她变得过度活跃，无法说话。4岁时出现非典型失神性癫痫发作，睡眠时脑电图显示连续广泛性峰波复合，诊断为DEE-SWAS。在诊断时，她的发展商（DQ）为51。然而，尽管进行了药物治疗，包括促肾上腺皮质激素治疗，但她对这些干预措施产生了耐药性，她的DQ在大约1年内降至39。在5岁零5个月时进行了全胼胝体切开术。术后癫痫发作得到控制，癫痫样放电向右半球偏侧。此外，还观察到发育方面的改善，包括言语能力的增强和预测排便需求的能力。结论早期胼胝体切开术可改善局灶性病变需时自行消退的耐药DEE-SWAS患者的癫痫发作和智力结局。

{"title":"A case of developmental and epileptic encephalopathy with spike-and-wave activation in sleep with structural etiology treated with corpus callosotomy","authors":"Haruka Nakata , Kiyohiro Kim , Shu Hamada , Kengo Kora , Ichiro Kuki , Noritsugu Kunihiro , Takehiro Uda , Toshiro Maihara","doi":"10.1016/j.bdcasr.2025.100072","DOIUrl":"10.1016/j.bdcasr.2025.100072","url":null,"abstract":"<div><h3>Background</h3><div>Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is often refractory to antiseizure medications and steroids, and a longer disease duration is associated with intellectual disabilities. Surgical treatment is sometimes performed; however, there have been few reports of corpus callosotomy.</div></div><div><h3>Case presentation</h3><div>The patient was a 5-year-old girl; at 16 months of age, she experienced seizures that began in her left upper limb and then spread throughout her body. Since then, she has had recurrent episodes. Electroencephalography (EEG) revealed spike-and-wave discharges in the right occipital region. Brain magnetic resonance imaging showed right ventricular enlargement and hemosiderin deposition in the right thalamus. Around the age of 3, she became hyperactive and unable to speak. At 4 years of age, atypical absence seizures appeared and EEG during sleep showed continuous generalized spike-and-wave complexes, leading to the diagnosis of DEE-SWAS. At the time of diagnosis, her developmental quotient (DQ) was 51. However, despite medical treatment, including adrenocorticotropic hormone therapy, she was resistant to these interventions, and her DQ decreased to 39 within approximately 1 year. A total corpus callosotomy was performed at the age of 5 years and 5 months. Postoperatively, epileptic seizures were controlled and the epileptiform discharges was lateralized to the right hemisphere. Additionally, developmental improvements were observed, including increased speech and the ability to anticipate the need for defecation.</div></div><div><h3>Conclusion</h3><div>Early corpus callosotomy can improve seizures and intellectual outcomes in patients with drug-resistant DEE-SWAS with focal lesions that can take time to resolve spontaneously.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100072"},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143611079","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 Chinese children with COVID-19 related acute encephalopathy with restricted diffusion 2例中国儿童新冠肺炎相关急性脑病扩散受限

Brain and Development Case Reports

Pub Date : 2025-03-07 DOI: 10.1016/j.bdcasr.2025.100070

Wing Ki CHAN, Eric Kin Cheong YAU, Mike Yat Wah KWAN, Grace Sui Fun NG, Kit Yan LEUNG

Introduction

Acute encephalopathy with biphasic seizure and late restricted diffusion (AESD) is a clinico-radiological syndrome with specific seizure pattern and delayed change in diffusion-weighted magnetic resonance imaging (MRI) of brain. Coronavirus disease 2019 (COVID-19) infection had been reported in association with neurological conditions or complications including AESD. Hereby we described two paediatric cases of definite AESD related to COVID-19 infection.

Case reports

Case-1 was a healthy 17-month-old boy presented with clusters of febrile status epilepticus on Day 1. His conscious state remained impaired despite initial seizure cessation. Seizures recurred on Day 6 and MRI brain showed extensive restricted diffusion over bilateral subcortical and deep white matter. He had significant motor regression and developed dystonia and intractable epilepsy subsequently. Case-2 was a 3-year-old girl with underlying developmental delay admitted for fever, coryza and status epilepticus on Day 2 illness. She improved initially but had seizure recurrence and deterioration in sensorium on Day 6. MRI brain showed restricted diffusion over bilateral fronto-temporo-parietal subcortical white matter with relative sparing over peri-rolandic region. Her function returned to baseline upon recovery. COVID-19 infection-associated AESD was diagnosed in both cases and they had been treated with immunotherapies including tocilizumab during acute disease.

Conclusion

Prompt seizure control and early immunotherapies are mainstay of treatment for AESD. Worse outcome was observed in patient with elevated interleukin-6 (IL-6) level in serum and cerebrospinal fluid, longer seizure duration in first-phase and more extensive MRI involvement in second-phase of disease. Early use of IL-6 receptor antibody did not improve the neurological outcome in patient with severe disease.

急性脑病伴两期发作和晚期弥散受限（AESD）是一种临床放射学综合征，具有特定的发作模式和脑弥散加权磁共振成像（MRI）延迟变化。据报道，2019年冠状病毒病（COVID-19）感染与神经系统疾病或包括AESD在内的并发症有关。在此，我们描述了两例明确与COVID-19感染相关的儿科AESD病例。病例报告：病例1是一名健康的17个月大的男孩，在第1天出现了一连串的发热性癫痫持续状态。他的意识状态仍然受损，尽管最初的癫痫停止。第6天癫痫复发，MRI显示双侧皮质下和深部白质弥散广泛受限。他有明显的运动退化，随后发展为肌张力障碍和顽固性癫痫。病例2为一名3岁女童，潜在发育迟缓，发病第2天因发热、鼻塞和癫痫持续状态入院。患者最初好转，但第6天癫痫复发，感觉功能恶化。脑MRI显示双侧额颞顶叶皮层下白质弥散受限，罗兰周围区域弥散相对较少。康复后，她的功能恢复到基线。两例患者均被诊断为COVID-19感染相关的AESD，并在急性疾病期间接受了包括托珠单抗在内的免疫疗法治疗。结论及时控制癫痫发作和早期免疫治疗是治疗AESD的主要方法。血清和脑脊液中白细胞介素-6 （IL-6）水平升高，第一阶段癫痫发作持续时间较长，第二阶段MRI受累范围更广的患者预后较差。早期使用IL-6受体抗体不能改善重症患者的神经预后。

{"title":"Two Chinese children with COVID-19 related acute encephalopathy with restricted diffusion","authors":"Wing Ki CHAN, Eric Kin Cheong YAU, Mike Yat Wah KWAN, Grace Sui Fun NG, Kit Yan LEUNG","doi":"10.1016/j.bdcasr.2025.100070","DOIUrl":"10.1016/j.bdcasr.2025.100070","url":null,"abstract":"<div><h3>Introduction</h3><div>Acute encephalopathy with biphasic seizure and late restricted diffusion (AESD) is a clinico-radiological syndrome with specific seizure pattern and delayed change in diffusion-weighted magnetic resonance imaging (MRI) of brain. Coronavirus disease 2019 (COVID-19) infection had been reported in association with neurological conditions or complications including AESD. Hereby we described two paediatric cases of definite AESD related to COVID-19 infection.</div></div><div><h3>Case reports</h3><div>Case-1 was a healthy 17-month-old boy presented with clusters of febrile status epilepticus on Day 1. His conscious state remained impaired despite initial seizure cessation. Seizures recurred on Day 6 and MRI brain showed extensive restricted diffusion over bilateral subcortical and deep white matter. He had significant motor regression and developed dystonia and intractable epilepsy subsequently. Case-2 was a 3-year-old girl with underlying developmental delay admitted for fever, coryza and status epilepticus on Day 2 illness. She improved initially but had seizure recurrence and deterioration in sensorium on Day 6. MRI brain showed restricted diffusion over bilateral fronto-temporo-parietal subcortical white matter with relative sparing over peri-rolandic region. Her function returned to baseline upon recovery. COVID-19 infection-associated AESD was diagnosed in both cases and they had been treated with immunotherapies including tocilizumab during acute disease.</div></div><div><h3>Conclusion</h3><div>Prompt seizure control and early immunotherapies are mainstay of treatment for AESD. Worse outcome was observed in patient with elevated interleukin-6 (IL-6) level in serum and cerebrospinal fluid, longer seizure duration in first-phase and more extensive MRI involvement in second-phase of disease. Early use of IL-6 receptor antibody did not improve the neurological outcome in patient with severe disease.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100070"},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563632","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 child with four episodes of recurrent reversible splenial lesions without an MYRF variant 无MYRF变异的四次复发可逆性脾脏病变的儿童

Brain and Development Case Reports

Pub Date : 2025-03-05 DOI: 10.1016/j.bdcasr.2025.100067

Haruna Mitsuya , Mitsuru Kashiwagi , Takuya Tanabe , Chizu Oba , Hirokazu Kurahashi , Akihisa Okumura , Akira Ashida

Background

Only a few cases of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) recur. The clinical findings of familial and/or MERS type 2 recurrent cases involving the myelin regulatory factor (MYRF) gene have recently been clarified, but it is unclear how the clinical findings of recurrent cases without an MYRF variant differ from those of cases with an MYRF pathogenic variant.

Case presentation

A 5-year-old girl with healthy parents and no previous developmental problems experienced four episodes of reversible splenial lesions. Each episode was observed with three to six recurrent seizures and persistent disturbance of consciousness. Based on magnetic resonance imaging (MRI) findings, the diagnosis was MERS type 2 in two episodes, MERS type 1 in one episode, and MERS type 2 lesions in one episode.

Discussion

Recurrent seizures, nonfamilial occurrence, recurrent lesions of different types, isolated splenial lesions in the corpus callosum (CC), and limited spread of white matter lesions were the characteristics of this case. Recurrent lesions of different types and lesions that do not always involve the entire CC or both genial and splenial lesions in the CC may characterize recurrent MERS cases without an MYRF variant. Further comparative investigations should be conducted with a larger number of patients to clarify the differences in clinical findings.

背景：只有少数伴有可逆性脾损害的轻度脑炎/脑病（MERS）复发。涉及髓磷脂调节因子（MYRF）基因的家族性和/或MERS 2型复发病例的临床表现最近已得到澄清，但不清楚无MYRF变异的复发病例的临床表现与MYRF致病变异病例的临床表现有何不同。一例5岁女童，父母健康，既往无发育问题，经历4次可逆性脾损害。每次发作伴有3 ~ 6次反复发作和持续性意识障碍。根据磁共振成像（MRI）结果，诊断为MERS 2型2次，MERS 1型1次，MERS 2型病变1次。反复发作，非家族性发生，不同类型的反复病变，胼胝体（CC）孤立性脾病变，白质病变有限扩散是本病例的特点。不同类型的复发病变和不总是累及整个CC的病变，或CC的温和和脾脏病变都可能是MERS复发病例的特征，没有MYRF变异。进一步的比较研究需要在更多的患者中进行，以澄清临床表现的差异。

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引用次数: 0

Sensory tricks initiating before skin contact: New observations in drug-induced tardive dystonia 皮肤接触前开始的感觉障碍：药物引起的迟发性肌张力障碍的新观察

Brain and Development Case Reports

Pub Date : 2025-02-26 DOI: 10.1016/j.bdcasr.2025.100068

Miwa Hagita , Masaya Kubota

Introduction

Dystonia is a movement disorder characterized by involuntary, sustained, or intermittent muscle contractions that often involve abnormalities in sensorimotor integration. Sensory tricks, in which a new sensory input can temporarily correct erroneous motor output, are hallmarks of dystonia. However, the underlying mechanism remains unclear. Here, we report a case of drug-induced tardive dystonia in which the sensory trick effect began before physical contact, providing new insights into its anticipatory processes.

Case report

A 17-year-old boy with intellectual disabilities, autism, and behavioral disorders developed torticollis and scoliosis after prolonged treatment with risperidone and levomepromazine. The symptoms included neck muscle co-contraction, leftward rotation, and compensatory scoliosis. A sensory trick was observed; light hand contact with the occiput improved the symptoms. However, the video analysis revealed that symptom relief began during arm movements before physical contact. This suggests the role of proprioception, motor preparation, and motor imagery in the sensory trick phenomenon. Discontinuation of the antipsychotics gradually resolved the symptoms.

Conclusion

This report highlights a crucial observation: sensory tricks begin before actual tactile contact, emphasizing the role of proprioceptive signals and motor planning in symptom relief. Anticipatory sensory processing suggests a broader mechanism that extends beyond tactile stimulation. These findings deepen our understanding of sensory tricks in dystonia and their neurophysiological basis, providing insights that could inform therapeutic strategies such as occupational therapy or biofeedback tailored to patients' self-discovered techniques for managing dystonia.

肌张力障碍是一种运动障碍，其特征是不自主的、持续的或间歇性的肌肉收缩，通常涉及感觉运动整合的异常。新的感觉输入可以暂时纠正错误的运动输出，这是肌张力障碍的标志。然而，其潜在机制尚不清楚。在这里，我们报告了一例药物引起的迟发性肌张力障碍，其中感觉欺骗效应在身体接触之前就开始了，为其预期过程提供了新的见解。病例报告一名患有智力障碍、自闭症和行为障碍的17岁男孩在长期使用利培酮和左旋丙嗪治疗后出现斜颈和脊柱侧凸。症状包括颈部肌肉共收缩、左旋和代偿性脊柱侧凸。观察到一种感官上的把戏；用手轻触枕部可改善症状。然而，视频分析显示，在身体接触之前，症状缓解始于手臂运动。这表明本体感觉、运动准备和运动意象在感觉欺骗现象中的作用。停用抗精神病药物后症状逐渐缓解。结论本报告强调了一个重要的观察结果：感觉技巧在实际触觉接触之前就开始了，强调了本体感觉信号和运动计划在症状缓解中的作用。预期感觉加工暗示了一种超越触觉刺激的更广泛的机制。这些发现加深了我们对肌张力障碍的感觉技巧及其神经生理学基础的理解，为治疗策略提供了见解，例如针对患者自我发现的管理肌张力障碍技术的职业治疗或生物反馈。

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引用次数: 0

A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1 由于SMN1都铎结构域的错义变异，1型严重脊髓性肌萎缩症对特异性治疗产生抗性

Brain and Development Case Reports

Pub Date : 2025-02-12 DOI: 10.1016/j.bdcasr.2025.100066

Tsuyoshi Aihara , Yuichi Abe , Atsushi Nishioka , Itaru Hayakawa

Introduction

Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle weakness and atrophy due to degeneration of anterior horn cells in the spinal cord. It typically results from the allele deletion of SMN1 alleles (null-SMN1). With the implementation of newborn screening for SMA (SMA-NBS), most null-SMN1 patients are diagnosed in a presymptomatic stage.

Case report

A full-term male infant initially had a negative SMA-NBS result but presented with muscle weakness within his first month. By two months, genetic testing identified a single allele deletion and a point variant in the Tudor domain of SMN1, along with three copies of SMN2, confirming SMA type I. The patient was treated with onasemnogene abeparvovec (OA) gene therapy. However, despite the presence of three SMN2 copies and OA treatment, he eventually required respiratory support, including tracheostomy and mechanical ventilation. At one year and seven months, risdiplam therapy was initiated.

Conclusion

SMA patients with SMN1 variants may bypass SMA-NBS and can develop severe SMA, depending on variant type, regardless of SMN2 copy number.

脊髓性肌萎缩症（SMA）是一种遗传性疾病，以脊髓前角细胞变性引起的肌肉无力和萎缩为特征。它通常是由SMN1等位基因缺失（null-SMN1）引起的。随着新生儿SMA筛查（SMA- nbs）的实施，大多数无smn1患者在症状前阶段被诊断出来。病例报告1例足月男婴最初有阴性SMA-NBS结果，但在第一个月内出现肌肉无力。两个月后，基因检测发现SMN1 Tudor结构域的单个等位基因缺失和一个点变异，以及SMN2的三个拷贝，确认为SMA i型。患者接受onasemnogene abeparvovec （OA）基因治疗。然而，尽管存在3个SMN2拷贝和OA治疗，他最终需要呼吸支持，包括气管造口术和机械通气。在1岁零7个月时，开始了瑞斯迪普兰治疗。结论SMN1变异的SMA患者可能会绕过SMA- nbs，并可能发展为严重的SMA，这取决于变异类型，与SMN2拷贝数无关。

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引用次数: 0

A case of selective developmental impairment of musical ability: Tone, beat, and chord deafness 选择性发育性音乐能力障碍一例：音、拍、和弦聋

Brain and Development Case Reports

Pub Date : 2025-01-31 DOI: 10.1016/j.bdcasr.2025.100064

Masayuki Satoh , Yoshito Mizoguchi , Katsuyuki Matsui , Makiko Abe , Ken-ichi Tabei

Introduction

This report explores a rare case of musical disability, highlighting the profound impact it can have on an individual's life.

Case presentation

Because of the necessity of a medical note for school, a 21-year-old right-handed man received an evaluation at our institute for his musical abilities, which have been severely impaired since birth. He complained about a complete inability to march and dance in time with music. Moreover, his singing was off-key, though he did not notice this on his own. He made a great effort to improve his musical skills with his parents and teachers, but was unable to, which led him to accept these deficits as a personal characteristic. Neurological examination revealed no abnormal findings in his motor, sensory, and coordination systems. His cognitive functions, including general intelligence, memory, constructional ability, frontal lobe, and executive function, were normal. Brain magnetic resonance imaging/magnetic resonance angiography (MRI/MRA) scans were also normal. Neuromusicological assessments revealed severe impairments in pitch perception and expression; rhythm, meter, and beat perception and expression; and chord perception. He was diagnosed with tone, beat, and chord deafness. He also had difficulty perceiving the esthetic characteristics of music, though he did still enjoy listening to it.

Conclusion

These musical challenges caused trouble to the patient in many school and daily life scenarios, and the symptoms were often difficult to be understood by teachers. Thus, it is important to raise awareness of such symptoms and conditions, particularly among educators.

本报告探讨了一个罕见的音乐残疾案例，强调了它对个人生活的深远影响。由于上学需要医疗证明，一名21岁的右撇子在我们的研究所接受了他的音乐能力的评估，他的音乐能力自出生以来就严重受损。他抱怨自己完全不能随着音乐及时行进和跳舞。此外，他唱歌跑调，虽然他自己没有注意到这一点。他在父母和老师的指导下努力提高自己的音乐技能，但却无能为力，这使他接受了这些缺陷作为个人特征。神经学检查未见运动、感觉和协调系统异常。他的认知功能，包括一般智力、记忆、构造能力、额叶和执行功能，都是正常的。脑磁共振成像/磁共振血管造影（MRI/MRA）扫描也正常。神经音乐学评估显示音调感知和表达严重受损；节奏、拍子和节拍的感知和表达；还有和弦感知。他被诊断为音调、节拍和和弦耳聋。他也很难感知音乐的审美特征，尽管他仍然喜欢听音乐。结论这些音乐挑战在许多学校和日常生活场景中给患者带来了麻烦，并且症状往往难以被教师理解。因此，提高特别是教育工作者对这些症状和状况的认识是很重要的。

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