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Degeneración walleriana del tracto corticoespinal por radioterapia: a propósito de un caso y revisión de la literatura 瓦勒氏放疗皮质脊髓性变性:以案例为基础的文献综述
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.07.003
José Fernando Robles Díaz
Wallerian degeneration (WD) refers to the pathological process of secondary degeneration of axons and myelin sheaths that occurs distal to the site of acute injury in the neuronal soma or proximal axon. A rare case is presented of a male patient with an intracerebral tumor who developed WD after receiving external radiotherapy. Clinically, he presented Weber syndrome. Magnetic resonance imaging of the brain in FLAIR and T2 sequences showed hyperintense corticospinal tract. Differential diagnoses and possible treatments are presented.
沃勒氏变性(Wallerian degeneration, WD)是指发生在急性损伤部位远端神经元体或近端轴突的轴突和髓鞘继发性变性的病理过程。一个罕见的病例提出了男性患者颅内肿瘤谁发展WD后接受外部放疗。临床表现为韦伯综合征。脑mri FLAIR和T2序列显示皮质脊髓束高信号。提出了鉴别诊断和可能的治疗方法。
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引用次数: 0
Neurosífilis: una enfermedad poco sospechada pero siempre presente 神经梅毒:一种很少被怀疑但始终存在的疾病
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.05.004
Cintia Pamela Rodriguez, Yobana Delina Lazarte, Cristian David Espona, Maria Laura Menichini, Jorge Pedro Capriotti

Introduction

Syphilis is a disease caused by Treponema Pallidum, usually presenting with nonspecific signs and symptoms. Neurosyphilis occurs in 40% of patients and its diagnosis continues to pose difficulties due to the lack of a sensitive and specific gold standard.

Patients and methods

We present a description of the clinical and analytical
1 ª página characteristics of cerebrospinal fluid in 10 patients with neurosyphilis who were hospitalized in a hospital in the city of Rosario.

Results

Seven patients were men and 3 were women. Mean age was 41.1. Seven of them were HIV carriers. Mean serum VDRL was 256 dils. Reactive VDRL was obtained in CSF in 4 patients, all of them HIV positive. CSF showed a mean of 48.3 elements/mm3 with mononuclear predominance. Proteinorraquia presented a mean of 1.1 g/l. Signs and symptoms were predominantly headache, 6 patients presented meningitis, 2 cerebrovascular events, 1 optic neuropathy and 1 cranial neuropathy. All patients received treatment with EV penicillin.

Conclusions

There is underdiagnosis of neurosyphilis, this may be due to limitations in the diagnostic methodology or to the approximation algorithms that seems to be unspecific. Although we were able to obtain some interesting approximations to the clinical and analytical characteristics of these patients, the small sample size prevents us from drawing conclusions with adequate statistical weight. Therefore, we consider it necessary to carry out new experiments in the future that will allow a better understanding of this type of patients, as well as to develop a sensitive and specific tool for the diagnosis of neurosyphilis.
梅毒是一种由梅毒螺旋体引起的疾病,通常表现为非特异性体征和症状。神经梅毒发生在40%的患者中,由于缺乏敏感和特定的金标准,其诊断仍然存在困难。患者和方法我们对罗萨里奥市一家医院住院的10例神经梅毒患者的脑脊液的临床和分析1ªpágina特征进行了描述。结果男性7例,女性3例。平均年龄为41.1岁。其中7人是艾滋病毒携带者。平均血清VDRL为256迪尔。4例患者脑脊液出现反应性VDRL,均为HIV阳性。脑脊液平均48.3个元素/mm3,单核优势。蛋白尿平均为1.1 g/l。体征和症状以头痛为主,出现脑膜炎6例,脑血管事件2例,视神经病变1例,颅神经病变1例。所有患者均接受EV青霉素治疗。结论神经梅毒的诊断不足,这可能是由于诊断方法的局限性或近似算法似乎不具体。虽然我们能够获得这些患者的临床和分析特征的一些有趣的近似,但小样本量使我们无法得出具有足够统计权重的结论。因此,我们认为有必要在未来开展新的实验,以便更好地了解这类患者,并开发一种敏感和特异性的神经梅毒诊断工具。
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引用次数: 0
Trombosis de senos durales como manifestación inusual de trombofilia hereditaria 硬膜性乳房血栓形成是遗传性血栓形成的一种罕见表现
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.08.002
Alejandro Arango , Julián Mauricio Jiménez Álvarez , Luisa Fernanda Giraldo Ballesteros , Juan Carlos Arrieta Bechara , Rafael Ignacio Herrera Ramos

Introduction

Cerebral venous thrombosis (CVT) is an uncommon condition with a multifactorial etiology, including hereditary thrombophilias. Hyperhomocysteinemia, secondary to MTHFR mutations, is a potential risk factor.

Case report

A 29-year-old woman with grade III obesity, preeclampsia, and a family history of cerebral thrombosis presented with progressive headache. Neuroimaging revealed extensive dural sinus thrombosis and intracranial hypertension. Hyperhomocysteinemia and an MTHFR (c.677C >T) heterozygous mutation were identified, leading to anticoagulation with dabigatran.

Conclusions

The association between CVT and MTHFR mutations remains controversial. There is no solid evidence supporting the systematic screening of hyperhomocysteinemia in cerebral thrombosis without a clear triggering factor.
脑静脉血栓形成(CVT)是一种罕见的疾病,其病因包括遗传性血栓形成。继发于MTHFR突变的高同型半胱氨酸血症是一个潜在的危险因素。病例报告:一名29岁女性,患有III级肥胖、先兆子痫和脑血栓家族史,表现为进行性头痛。神经影像学显示广泛的硬脑膜窦血栓形成和颅内高压。发现高同型半胱氨酸血症和MTHFR (c.677C >;T)杂合突变,导致使用达比加群抗凝。结论CVT与MTHFR突变之间的关系仍有争议。没有确凿的证据支持在没有明确触发因素的情况下对脑血栓患者进行高同型半胱氨酸血症的系统筛查。
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引用次数: 0
Compromiso bulbar en paciente con mieloma múltiple y neuropatía periférica secundaria 多发性骨髓瘤和继发性周围神经病变患者的球状病变
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.07.004
Martina Scicchitano, Maria Florencia Sica, Ludmila Ortiz, Agustina Babbicola, Daiana Barrio, Emilia Sanchez Toledo, Emilia Clement, Alejandra Heriz, Lucas Romano, Pablo Ioli, Macarena Bermejo
Multiple myeloma (MM) is a hematologic malignancy characterized by the proliferation of abnormal plasma cells and the production of monoclonal proteins, frequently leading to multisystem involvement. Neurological complications, including peripheral neuropathy and cranial nerve involvement, may occur during the course of the disease. We report the case of a patient diagnosed with MM in 2014, who underwent multiple lines of therapy due to successive relapses. Over time, he developed progressive muscle weakness, dysarthria, and bulbar symptoms. Neurological assessment revealed evidence of multifactorial involvement. Despite ongoing treatment, the patient's neurological condition deteriorated, and he ultimately died due to bronchoaspiration. This case underscores the clinical complexity of advanced MM and highlights its potential for atypical neurological manifestations.
多发性骨髓瘤(MM)是一种以异常浆细胞增殖和单克隆蛋白产生为特征的血液系统恶性肿瘤,经常导致多系统受累。神经系统并发症,包括周围神经病变和脑神经受累,可发生在病程中。我们报告了2014年诊断为MM的患者,由于连续复发,接受了多线治疗。随着时间的推移,他出现了进行性肌肉无力、构音障碍和球症状。神经学评估显示多因素累及的证据。尽管持续治疗,患者的神经系统状况恶化,最终死于支气管吸入。这个病例强调了晚期MM的临床复杂性,并强调了其潜在的非典型神经表现。
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引用次数: 0
Impacto de la fatiga sobre la calidad de vida y la funcionalidad en pacientes con esclerosis múltiple 疲劳对多发性硬化症患者生活质量和功能的影响
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.04.006
Francisco Peñalver , Ana Laura González Bellene , Graciana Galiana , Berenice Silva

Introduction

Multiple sclerosis (MS) is a central nervous system (CNS) disease with various physical, emotional, and cognitive symptoms, including fatigue, which deteriorates health perception. Our study aimed to determine the impact of fatigue on quality of life and its relationship with the Expanded Disability Status Scale (EDSS) in MS patients, as well as to evaluate the impact on work activity since diagnosis.

Materials and methods

We designed a multicenter, observational, descriptive, and cross-sectional study of our MS population. Data were collected using the Modified Fatigue Impact Scale (MFIS) and the International Quality of Life in MS Questionnaire (MusiQol). Parametric and non-parametric data were analyzed using EPI Info 7 and Java 2.5.6 software for binomial linear regression.

Results

We included 101 MS patients over a 4-month period. The median EDSS was 1.5. Fatigue was present in 34.7% of patients, with 45.5% of them showing high impact on the physical subscale. Among patients with fatigue, 62.9% experienced a reduction in their working hours. The global index (GI) of the MusiQol questionnaire revealed moderate quality of life in 62.9% of MS patients. The median EDSS was higher in patients with high fatigue impact in the physical and psychosocial domains compared to those with low impact (p = 0.0003 and p = 0.0001). Patients with moderate GI had a median EDSS of 2, while those with good GI had a median EDSS of 1 (p = 0.003). Non-parametric analysis showed that patients with fatigue had a median EDSS of 2, while those without fatigue had a median of 1 (p = 0.001). Parametric analysis indicated that patients with EDSS < 2 had a moderate GI in 51.7% and a good GI in 44.8%, whereas those with EDSS  2 had a moderate GI in 72.1% and a good GI in 20.9% (p = 0.004). Fatigue was present in 53.5% of patients with EDSS  2, compared to only 20.7% of those with EDSS < 2 (p = 0.0003).

Conclusion

Fatigue has a low prevalence but significantly impacts the physical subscale, affecting quality of life and work hours, even in patients with EDSS of 2 or higher.
多发性硬化症(MS)是一种中枢神经系统(CNS)疾病,伴有各种身体、情绪和认知症状,包括疲劳,从而恶化健康感知。本研究旨在确定疲劳对MS患者生活质量的影响及其与扩展残疾状态量表(EDSS)的关系,并评估自诊断以来对工作活动的影响。材料和方法我们设计了一项针对多发性硬化症人群的多中心、观察性、描述性和横断面研究。采用改良疲劳影响量表(MFIS)和国际MS生活质量问卷(musiol)收集数据。采用EPI Info 7和Java 2.5.6软件对参数和非参数数据进行二项线性回归分析。结果我们在4个月的时间内纳入了101例MS患者。中位EDSS为1.5。34.7%的患者存在疲劳,其中45.5%的患者对身体分量表有高影响。在疲劳患者中,62.9%的人工作时间减少。musikol问卷的全球指数(GI)显示62.9%的MS患者生活质量为中等。在身体和心理社会领域,高疲劳影响患者的中位EDSS高于低疲劳影响患者(p = 0.0003和p = 0.0001)。中度GI患者的中位EDSS为2,而良好GI患者的中位EDSS为1 (p = 0.003)。非参数分析显示,疲劳患者的EDSS中位数为2,而无疲劳患者的EDSS中位数为1 (p = 0.001)。参数分析显示,EDSS <; 2组患者中GI为中度的占51.7%,GI为良好的占44.8%,而EDSS≥2组患者中GI为中度的占72.1%,GI为良好的占20.9% (p = 0.004)。EDSS≥2的患者中有53.5%存在疲劳,而EDSS≥2的患者中只有20.7%存在疲劳(p = 0.0003)。结论即使在EDSS为2级及以上的患者中,疲劳的患病率较低,但对身体分量表有显著影响,影响生活质量和工作时间。
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引用次数: 0
Accidente cerebrovascular isquémico y síndrome de robo de la subclavia: más que un hallazgo incidental 缺血性脑卒中和锁骨下盗窃综合征:不仅仅是偶然发现
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.07.001
Alexandra Ferreirós, Carolina García-Alfonso, Lussiana Folleco Insuasty, Juliana Coral

Introduction

Subclavian steal syndrome occurs due to retrograde flow secondary to ipsilateral subclavian stenosis which leads to hemodynamic changes causing cerebrovascular lesions, specifically in the posterior arterial territory.

Case

A patient with acute weakness and hypoesthesia. MRI revealed a stroke in the left middle cerebral artery territory. Further studies reported subclavian steal syndrome.

Conclusion

Subclavian steal syndrome is associated with cerebrovascular disease, particularly in the posterior territory, hence, neurologists should be aware of the clinical picture, diagnosis approach and treatment options.
锁骨下窃血综合征的发生是由于继发于同侧锁骨下狭窄的逆行血流,导致血流动力学改变,导致脑血管病变,特别是在后动脉区域。1例急性虚弱和感觉减退患者。MRI显示左大脑中动脉区域中风。进一步的研究报道了锁骨下窃综合征。结论锁骨下窃血综合征与脑血管疾病有关,尤其与后脑区有关,因此神经科医师应了解其临床情况、诊断方法和治疗方案。
{"title":"Accidente cerebrovascular isquémico y síndrome de robo de la subclavia: más que un hallazgo incidental","authors":"Alexandra Ferreirós,&nbsp;Carolina García-Alfonso,&nbsp;Lussiana Folleco Insuasty,&nbsp;Juliana Coral","doi":"10.1016/j.neuarg.2025.07.001","DOIUrl":"10.1016/j.neuarg.2025.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Subclavian steal syndrome occurs due to retrograde flow secondary to ipsilateral subclavian stenosis which leads to hemodynamic changes causing cerebrovascular lesions, specifically in the posterior arterial territory.</div></div><div><h3>Case</h3><div>A patient with acute weakness and hypoesthesia. MRI revealed a stroke in the left middle cerebral artery territory. Further studies reported subclavian steal syndrome.</div></div><div><h3>Conclusion</h3><div>Subclavian steal syndrome is associated with cerebrovascular disease, particularly in the posterior territory, hence, neurologists should be aware of the clinical picture, diagnosis approach and treatment options.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"17 4","pages":"Pages 242-246"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lipomatosis múltiple simétrica y neuropatía axonal en paciente con enfermedad de Charcot-Marie-Tooth debida a mutación homocigota en MFN2 MFN2同位突变引起的腓骨-玛丽-牙髓病患者多发性对称脂肪瘤和轴突神经病变
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.09.001
Antonio Cristóbal Luque-Ambrosiani , Francisco Javier Gómez-Fernández
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引用次数: 0
Seudoparálisis del abducens 癫痫麻痹
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.07.002
Alejandra Heriz , Andrea Horsch , Jorge Norscini

Introduction

Abducens (sixth cranial nerve) pseudoparalysis is a rare condition, with few reported cases in the literature. There's no clear consensus on the precise anatomical mechanisms that cause it, though damage to structures like the mesencephalon, thalamus, or pons is suggested as a potential origin. It's hypothesized that an impairment of the descending pathways controlling convergence inhibition, specifically those descending through the paramedian thalamic area and decussating in the subthalamic region, could lead to hyperfunction of the contralateral medial rectus, mimicking a sixth nerve deficit.

Case report

This article presents a case of abducens pseudoparalysis in a patient with exquisite and isolated thalamic involvement. Magnetic resonance imaging (MRI) scans in coronal and sagittal views showed a lesion almost exclusively in the dorsomedial thalamic nucleus, with no involvement of other regions.

Discussion

This finding is crucial as it suggests that an isolated lesion in the dorsomedial thalamic nucleus is sufficient to cause this clinical presentation. Most previously reported cases involve multiple structures, making this report extremely rare and the first with such a circumscribed lesion.

Conclusion

Abducens pseudoparalysis results from the alteration of suprananclear pathways as they pass through the thalamus and mesencephalon. Our case highlights that a focal lesion in the dorsomedial thalamic nucleus can be the sole cause, representing an infrequent and unique presentation in medical literature.
外展神经(第六脑神经)假性麻痹是一种罕见的疾病,文献中很少报道病例。虽然中脑、丘脑或脑桥等结构的损伤被认为是潜在的原因,但关于导致这种疾病的精确解剖机制还没有明确的共识。据推测,控制收敛抑制的下行通路受损,特别是那些通过丘脑旁脉区下行并在丘脑下区交叉的下行通路,可能导致对侧内侧直肌功能亢进,类似于第六神经缺损。病例报告这篇文章提出一例外展假性麻痹的病人有精致和孤立的丘脑受累。磁共振成像(MRI)冠状面和矢状面扫描显示病变几乎完全发生在丘脑背内侧核,其他区域未受累。这一发现是至关重要的,因为它表明丘脑背内侧核的孤立病变足以引起这种临床表现。大多数先前报道的病例涉及多个结构,使得本报告极其罕见,并且是第一个有这种局限性病变的病例。结论外展肌假性麻痹是通过丘脑和中脑的核上通路发生改变所致。我们的病例强调,丘脑背内侧核的局灶性病变可能是唯一的原因,在医学文献中是一种罕见而独特的表现。
{"title":"Seudoparálisis del abducens","authors":"Alejandra Heriz ,&nbsp;Andrea Horsch ,&nbsp;Jorge Norscini","doi":"10.1016/j.neuarg.2025.07.002","DOIUrl":"10.1016/j.neuarg.2025.07.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Abducens (sixth cranial nerve) pseudoparalysis is a rare condition, with few reported cases in the literature. There's no clear consensus on the precise anatomical mechanisms that cause it, though damage to structures like the mesencephalon, thalamus, or pons is suggested as a potential origin. It's hypothesized that an impairment of the descending pathways controlling convergence inhibition, specifically those descending through the paramedian thalamic area and decussating in the subthalamic region, could lead to hyperfunction of the contralateral medial rectus, mimicking a sixth nerve deficit.</div></div><div><h3>Case report</h3><div>This article presents a case of abducens pseudoparalysis in a patient with exquisite and isolated thalamic involvement. Magnetic resonance imaging (MRI) scans in coronal and sagittal views showed a lesion almost exclusively in the dorsomedial thalamic nucleus, with no involvement of other regions.</div></div><div><h3>Discussion</h3><div>This finding is crucial as it suggests that an isolated lesion in the dorsomedial thalamic nucleus is sufficient to cause this clinical presentation. Most previously reported cases involve multiple structures, making this report extremely rare and the first with such a circumscribed lesion.</div></div><div><h3>Conclusion</h3><div>Abducens pseudoparalysis results from the alteration of suprananclear pathways as they pass through the thalamus and mesencephalon. Our case highlights that a focal lesion in the dorsomedial thalamic nucleus can be the sole cause, representing an infrequent and unique presentation in medical literature.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"17 4","pages":"Pages 247-251"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Síndrome de alarma capsular: reporte de un caso y revisión bibliográfica 胶囊警报综合征:病例报告和文献综述
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.08.004
Guillermo Bizantino , Ana Arduz , Alejandro Ceciliano , Santiago Farfán , Cristian Noriega , Agustina Palmero , Bruno Petrini , Sol Pratesi , Josefina Seguí , Francisco Villasante , Carolina Zúñiga
We present the case of a 76-year-old male diagnosed with capsular alarm syndrome, defined by at least three stereotyped, self-limiting neurological episodes within 72 hours, affecting the face, arm, or leg, without cortical signs and with full symptom resolution. This syndrome often precedes a symptomatic infarction in 40–60% of cases. The exact pathophysiological mechanism remains unclear. High-resolution MRI and MRA are the most precise diagnostic tools. Therapeutic management includes combined antiplatelet therapy, strict control of blood pressure, and intravenous thrombolysis in selected cases. Early recognition and intervention are essential to reduce the risk of progression to a disabling ischemic event.
我们报告一位76岁男性被诊断为囊膜报警综合征,其定义为在72小时内至少三次刻板的,自限性神经发作,影响面部,手臂或腿部,无皮质体征,症状完全消退。在40-60%的病例中,这种综合征通常先于症状性梗死。确切的病理生理机制尚不清楚。高分辨率MRI和MRA是最精确的诊断工具。治疗管理包括联合抗血小板治疗,严格控制血压,并在选定的病例静脉溶栓。早期识别和干预对于降低进展为致残缺血性事件的风险至关重要。
{"title":"Síndrome de alarma capsular: reporte de un caso y revisión bibliográfica","authors":"Guillermo Bizantino ,&nbsp;Ana Arduz ,&nbsp;Alejandro Ceciliano ,&nbsp;Santiago Farfán ,&nbsp;Cristian Noriega ,&nbsp;Agustina Palmero ,&nbsp;Bruno Petrini ,&nbsp;Sol Pratesi ,&nbsp;Josefina Seguí ,&nbsp;Francisco Villasante ,&nbsp;Carolina Zúñiga","doi":"10.1016/j.neuarg.2025.08.004","DOIUrl":"10.1016/j.neuarg.2025.08.004","url":null,"abstract":"<div><div>We present the case of a 76-year-old male diagnosed with capsular alarm syndrome, defined by at least three stereotyped, self-limiting neurological episodes within 72<!--> <!-->hours, affecting the face, arm, or leg, without cortical signs and with full symptom resolution. This syndrome often precedes a symptomatic infarction in 40–60% of cases. The exact pathophysiological mechanism remains unclear. High-resolution MRI and MRA are the most precise diagnostic tools. Therapeutic management includes combined antiplatelet therapy, strict control of blood pressure, and intravenous thrombolysis in selected cases. Early recognition and intervention are essential to reduce the risk of progression to a disabling ischemic event.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"17 4","pages":"Pages 272-275"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
No es un Birdshot: un debut atípico de sarcoidosis 这不是一个鸟拍:一个非典型的首次结节病
Q4 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.neuarg.2025.08.003
Alfredo Puy Núñez , Nuria Redondo Rafales , Francisco Javier Cores González , Julia Barreiro Honrado , Luis Anibarro García , Ana Rodríguez Regal

Introduction

Uveitis is one of the major causes of visual impairment and remains a challenge.

Clinical case

We present a case of a rapid bilateral visual acuity deficit in a patient with fundus compatible with Birdshot's chorioretinopathy (BCR) and human leukocyte antigen A29 (HLA-A29) positivity. We discuss the differential diagnosis and the tests performed that, together with the follow-up time with the established treatment, allow the diagnosis of neurosarcoidosis.

Conclusions

Screening for systemic clinical manifestations should be consubstantial with the findings of a fundus compatible with BCR. HLA-A29 positivity does not allow a diagnosis to be confirmed by itself.
葡萄膜炎是视力损害的主要原因之一,一直是一个挑战。我们报告一例眼底与鸟射氏脉络膜视网膜病变(BCR)相容且人白细胞抗原A29 (HLA-A29)阳性的快速双侧视力下降病例。我们讨论鉴别诊断和所做的测试,以及随访时间和既定治疗,允许诊断神经结节病。结论系统性临床表现的筛查应与眼底与BCR相符的结果一致。HLA-A29阳性不能单独确诊。
{"title":"No es un Birdshot: un debut atípico de sarcoidosis","authors":"Alfredo Puy Núñez ,&nbsp;Nuria Redondo Rafales ,&nbsp;Francisco Javier Cores González ,&nbsp;Julia Barreiro Honrado ,&nbsp;Luis Anibarro García ,&nbsp;Ana Rodríguez Regal","doi":"10.1016/j.neuarg.2025.08.003","DOIUrl":"10.1016/j.neuarg.2025.08.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Uveitis is one of the major causes of visual impairment and remains a challenge.</div></div><div><h3>Clinical case</h3><div>We present a case of a rapid bilateral visual acuity deficit in a patient with fundus compatible with Birdshot's chorioretinopathy (BCR) and human leukocyte antigen A29 (HLA-A29) positivity. We discuss the differential diagnosis and the tests performed that, together with the follow-up time with the established treatment, allow the diagnosis of neurosarcoidosis.</div></div><div><h3>Conclusions</h3><div>Screening for systemic clinical manifestations should be consubstantial with the findings of a fundus compatible with BCR. HLA-A29 positivity does not allow a diagnosis to be confirmed by itself.</div></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"17 4","pages":"Pages 259-263"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Neurologia Argentina
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