Brain and Development Case Reports最新文献

Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome 一名利氏综合征患者的脑部顺序磁共振成像显示出广泛的变化和后可逆性脑病综合征的发展

Brain and Development Case Reports Pub Date : 2024-09-13 DOI: 10.1016/j.bdcasr.2024.100040

{"title":"Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome","authors":"","doi":"10.1016/j.bdcasr.2024.100040","DOIUrl":"10.1016/j.bdcasr.2024.100040","url":null,"abstract":"<div><p>Background: The majority of Leigh syndrome cases exhibit fulminant clinical courses, and magnetic resonance imaging (MRI) typically reveals evolutionary changes. We present a case of Leigh syndrome in which MRI of the brain revealed extensive changes along with the development of posterior reversible encephalopathy syndrome (PRES).</p><p>Patient: An 8-year-old Japanese girl presented with gait disturbance. MRI revealed high-intensity areas in the bilateral basal ganglia and the ventral midbrain in T2-weighted images (T2WIs) and fluid attenuated inversion recovery (FLAIR). We identified the mitochondrial DNA homozygous mutation 9176 T > C. The patient gradually recovered. One month after symptom onset, she developed respiratory and circulatory failure accompanied by lactic acidosis and disturbances of consciousness. A repeat MRI did not reveal any new lesions. Subsequently, 1 month later, she presented with disturbances of consciousness, headache, and vision disturbances. Her blood pressure was 210/140 mmHg; MRI revealed many spotty high-intensity areas, predominantly located in the parietal and occipital lobes in T2WIs and FLAIR. She was treated with hypotensive drugs and gradually recovered with improved MRI findings. This episode was diagnosed as PRES.</p><p>Conclusion: This case revealed extensive changes in MRI findings of the brain, as well as disturbances of consciousness due to respiratory and circulatory failure and PRES. Sequential brain MRI is useful for the evaluation of patients with Leigh syndrome and for the detection of unexpected complications, such as PRES.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000369/pdfft?md5=a91eabdb445cbf7572b141218d7d13d7&pid=1-s2.0-S2950221724000369-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142229385","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

Frequent breath-hold while awakening in SATB1 missense variant: A case report SATB1 错义变异体在觉醒时经常憋气：病例报告

Brain and Development Case Reports Pub Date : 2024-09-12 DOI: 10.1016/j.bdcasr.2024.100036

{"title":"Frequent breath-hold while awakening in SATB1 missense variant: A case report","authors":"","doi":"10.1016/j.bdcasr.2024.100036","DOIUrl":"10.1016/j.bdcasr.2024.100036","url":null,"abstract":"<div><p><em>Introduction: SATB1</em> encodes a protein of the same name, and its genetic alteration causes SATB1 (special AT-rich sequence-binding protein 1) dysfunction, which clinically presents as developmental delay, intellectual disability, facial features, and epilepsy. However, detailed clinical information, especially regarding respiratory disorders, has not yet been fully described.</p><p><em>Case Presentation:</em> We report the case of a 3-year-old Japanese girl with a <em>de novo</em> variant of <em>SATB1</em>, c.1588G > A:p.(Glu530Lys), who presented with a frequent breath-holding and hyperventilation while awake, in addition to typical phenotype. The long-term EEG showed no corresponding epileptiform changes, and breath-holding was considered non-epileptic rather than epilepsy, such as ictal central apneas. Valproic acid and acetazolamide alleviated breath-holding; however, it was intractable.</p><p><em>Conclusion:</em> Respiratory disorders were thought to be non-epileptic, not reported in <em>SATB1</em> disorders, and were resistant to treatment. The case was considered critical and may provide new research clues to this severe and not yet fully understood phenomenon.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000321/pdfft?md5=7b06a36254beacba17e0007f42f80e1b&pid=1-s2.0-S2950221724000321-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172882","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

Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature 一名中国脊髓性肌萎缩症3型患者脑室腹腔分流术后的鞘内奴西那生治疗：病例报告和文献综述

Brain and Development Case Reports Pub Date : 2024-09-12 DOI: 10.1016/j.bdcasr.2024.100039

{"title":"Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature","authors":"","doi":"10.1016/j.bdcasr.2024.100039","DOIUrl":"10.1016/j.bdcasr.2024.100039","url":null,"abstract":"<div><h3>Background</h3><p>There is a risk of secondary communicating hydrocephalus in patients with 5q spinal muscular atrophy (SMA) treated with intrathecal nusinersen. The benefits and risks of intrathecal nusinersen treatment in SMA type 3 patients with ventriculoperitoneal shunt (VPS) due to hydrocephalus are unknown.</p></div><div><h3>Case report</h3><p>A female patient was diagnosed with hydrocephalus at 6 months owing to a progressive increase in head circumference and underwent VPS treatment at 7 months. Motor function development was delayed, and she was diagnosed with SMA type 3 at 41 months. Intrathecal nusinersen treatment was initiated when the patient was 51 months old. The results of the motor function rating scales showed significant improvement after 28 months of follow-up, and a CT scan of the head showed relief of the hydrocephalus. Serious adverse reactions were not observed.</p></div><div><h3>Conclusion</h3><p>Intrathecal nusinersen treatment is effective and safe after VPS surgery in SMA type 3 patients. Hydrocephalus is not a contraindication for intrathecal nusinersen treatment in SMA patients.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000357/pdfft?md5=a43000bcbdca06f80a06e7fc3860978e&pid=1-s2.0-S2950221724000357-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172841","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

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

{"title":"Pediatric Opsoclonus myoclonus syndrome with improvement of symptoms and decrease in cerebrospinal fluid B cell percentage after Rituxmab administration: Case report","authors":"","doi":"10.1016/j.bdcasr.2024.100037","DOIUrl":"10.1016/j.bdcasr.2024.100037","url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Case report</h3><p>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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000333/pdfft?md5=7d9f9ef0bdf7851f1dc683fc7ae070c9&pid=1-s2.0-S2950221724000333-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162283","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

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

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

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

{"title":"Two cases of cerebrospinal fluid hypovolemia that had been interpreted as orthostatic dysregulation","authors":"","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":null,"pages":null},"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}

引用次数: 0

Brain and Development Case Reports Pub Date : 2024-08-13 DOI: 10.1016/j.bdcasr.2024.100034

{"title":"GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement","authors":"","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":null,"pages":null},"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}

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

{"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":"","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":null,"pages":null},"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}

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

{"title":"Case Report: Successful complete open corpus callosotomy for refractory epilepsy in Rett syndrome","authors":"","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":null,"pages":null},"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}

引用次数: 0