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Acquired multiple acyl-CoA dehydrogenase deficiency (MADD) provoked by sertraline: an emerging and treatable disorder. 舍曲林引起的获得性多重酰基辅酶a脱氢酶缺乏症(MADD):一种新出现的可治疗的疾病。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-09 DOI: 10.1136/pn-2025-005016
Anca Loredana Alungulese, Irene Catalina Alvarez, Ignacio Millán Arredondo, Pedro Ruiz Sala, Francisco Arias, Julio Prieto Montalvo, María Isabel Esteban Rodriguez
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引用次数: 0
Clinicopathological conference: a pregnant woman with headache and migratory sensory symptoms. 临床病理会议:1例孕妇头痛伴移动性感觉症状。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-02 DOI: 10.1136/pn-2025-004926
Neil Watson, Jeremy Darryl Isaacs, Ana Casado, David Dorward, Karin Purshouse, Melanie Mackean, Colin Smith, Tim Wilkinson, Siddharthan Chandran, Richard Davenport

A 34-year-old woman developed recurrent headaches with left-sided sensory and visual disturbances and was found to have multiple cystic brain lesions. This report documents the clinicopathological conference at the 45th Edinburgh Advanced Clinical Neurology course in 2025.

一名34岁女性复发性头痛,左侧感觉和视觉障碍,并发现多发性囊性脑损伤。本报告记录了2025年第45届爱丁堡高级临床神经病学课程的临床病理会议。
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引用次数: 0
A Body Made of Glass: A History of Hypochondria by Caroline Crampton. 《玻璃制成的身体:疑病症史》卡洛琳·克兰普顿著。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-30 DOI: 10.1136/pn-2025-005077
Joseph Henry Stewart Thompson, Matilda Mabel Madonna Barnes-Harris
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引用次数: 0
Ophthalmoplegia: when the tests are all negative, where next? 眼麻痹:当检查结果都是阴性时,下一步怎么办?
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-30 DOI: 10.1136/pn-2025-005005
Gashirai K Mbizvo, Anna Visca, Ian Marsh, Mark Radon, Dinesh Damodaran, Andrew J Larner

When persistent neurological symptoms and signs defy diagnostic explanation despite repeated rounds of investigation, how should the clinician proceed? We present a case of this type with an eventual and unusual diagnosis. As well as being an exercise in awareness raising, the case serves as a prelude to considering what practical management strategies might be adopted in the face of persistent diagnostic uncertainty with its consequent frustrations for patient, significant others and physicians. We consider these approaches first with respect to the specific finding of ophthalmoplegia, the principal feature in this case, and second with respect to any neurological diagnosis.

当持续的神经症状和体征无视诊断解释,尽管反复调查,临床医生应该如何处理?我们提出一个这种类型的最终和不寻常的诊断的情况。作为一个提高认识的练习,这个案例作为一个前奏,考虑在面对持续的诊断不确定性及其对患者、重要他人和医生的挫折时,可能采用什么样的实际管理策略。我们考虑这些方法首先与具体发现的眼麻痹,主要特征在这个情况下,其次与任何神经学诊断。
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引用次数: 0
One-and-a-half spectrum syndrome. 一个半谱综合症。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1136/pn-2025-004791
Velia Men, Zofia Esme Karasinska-Stanley, David Hutchinson
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引用次数: 0
Ring-enhancing lesions in an immunocompetent patient. 免疫功能正常患者的环增强病变。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1136/pn-2025-004914
Vaibhav Bhandari, M C Sharma, Ajay Garg, Aneesh Joshi, Ashwinee Kumar, Madhavi Tripathi, Jasmine Parihar, Deepti Vibha, Rajesh K Singh, Manjari Tripathi, Arunmozhimaran Elavarasi

Ring-enhancing brain lesions present a common radiological conundrum, especially in immunocompetent hosts where there is a broad differential diagnosis. Toxoplasma gondii, an obligate intracellular protozoan, typically causes encephalitis in immunocompromised patients, especially those with HIV/AIDS. Toxoplasma cerebral lesions in apparently immunocompetent people pose a diagnostic dilemma. The clinical features may mimic neoplastic or fungal causes, particularly when there are atypical radiological and histological presentations. We report an immunocompetent patient with toxoplasma encephalitis causing multiple cerebral lesions, with persistent clinical deterioration, ambiguous radiological findings and delayed response to treatment. The case emphasises the importance of tissue diagnosis and multidisciplinary management in this condition.

环增强脑病变是一个常见的放射学难题,特别是在免疫能力强的宿主中,有广泛的鉴别诊断。刚地弓形虫是一种专性细胞内原生动物,通常在免疫功能低下的患者,特别是艾滋病毒/艾滋病患者中引起脑炎。弓形虫脑病变在明显免疫能力的人造成诊断困境。临床特征可能与肿瘤或真菌原因相似,特别是当有不典型的放射学和组织学表现时。我们报告一个免疫功能正常的弓形虫脑炎患者,引起多发性脑损伤,持续的临床恶化,模糊的放射学表现和治疗反应延迟。该病例强调了在这种情况下组织诊断和多学科管理的重要性。
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引用次数: 0
Nutrition in Parkinson's disease: what neurologists need to know. 帕金森病的营养:神经学家需要知道的。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1136/pn-2025-004998
Marshal Spenser Shuler, Aakash Prasad, Richelle Flanagan, Viswas Dayal, Fiona Eileen Lithander

Optimal nutrition is a fundamental determinant of a healthy life. Many non-motor symptoms in Parkinson's disease (PD) adversely affect nutritional status. Although current resources, including the 'Clinical nutrition in neurology guidelines' from the European Society for Clinical Nutrition and Metabolism, provide valuable recommendations, there is a need for updated, PD-specific dietary guidelines. This article aims to support neurologists by providing a concise and comprehensive overview of the most important nutritional considerations for PD: (1) body weight regulation; (2) guidance on micronutrient monitoring and supplementation; (3) strategies to ensure adequate protein intake while minimising nutrient-drug interactions; (4) dietary approaches for gastrointestinal issues and (5) promising dietary strategies for PD symptom management.

最佳营养是健康生活的基本决定因素。帕金森病(PD)的许多非运动症状对营养状况有不利影响。尽管目前的资源,包括来自欧洲临床营养与代谢学会的“神经病学临床营养指南”,提供了有价值的建议,但仍需要更新pd特定的饮食指南。本文旨在通过对帕金森病最重要的营养因素提供一个简明而全面的概述来支持神经科医生:(1)体重调节;(2)微量营养素监测和补充指南;(3)确保足够的蛋白质摄入,同时尽量减少营养药物相互作用的策略;(4)胃肠道问题的饮食方法;(5)PD症状管理的有希望的饮食策略。
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引用次数: 0
Oxygen desaturation in patients with functional seizures: pitfalls for the unwary. 功能性癫痫患者的氧饱和度:粗心者的陷阱。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-27 DOI: 10.1136/pn-2025-004868
Takamichi Kanbayashi, Kirsteen Brown, Jon Stone

Functional seizures are one of the most common presentations of functional neurological disorder and frequently generate diagnostic uncertainty in emergency settings. We are experiencing increasing reports of oxygen desaturation during functional seizures, particularly with widespread use of consumer oximeters and wearable devices. We describe a case of recurrent functional seizures with documented desaturation that prompted cardiopulmonary investigations and repeat video-electroencephalogram evaluation. In a controlled setting, apparent desaturations were attributable to artefact and brief breath-holding, with saturations remaining within the expected physiological range. We review common artefactual causes of low oxyhaemoglobin saturation in functional seizures, including motion, excessive pressure due to clenched fingers, excessive ambient light, poor probe placement and low perfusion, as well as the potential role of posthyperventilation apnoea. Recognising these pitfalls is essential to avoid misinterpretation, unnecessary investigations and anxiety for patients and clinicians. Understanding oximetry waveform quality and artefact sources is key to distinguishing true hypoxia from misleading readings.

功能性癫痫发作是功能性神经障碍最常见的表现之一,在紧急情况下经常产生诊断不确定性。我们正在经历越来越多的功能性癫痫发作期间氧饱和度下降的报告,特别是随着消费者血氧仪和可穿戴设备的广泛使用。我们描述了一个反复的功能性癫痫发作与记录的去饱和,促使心肺调查和重复视频脑电图评估。在受控环境下,明显的低饱和度可归因于人为因素和短暂的屏气,饱和度保持在预期的生理范围内。我们回顾了功能性癫痫发作中常见的低氧血红蛋白饱和度的人为原因,包括运动,紧握手指造成的过度压力,过度的环境光,不良的探针放置和低灌注,以及通气后呼吸暂停的潜在作用。认识到这些陷阱对于避免误解、不必要的调查以及患者和临床医生的焦虑至关重要。了解血氧仪波形质量和伪影来源是区分真实缺氧和误导读数的关键。
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引用次数: 0
Linear scleroderma 'en coup de sabre'. 线性硬皮病“刀下政变”。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-23 DOI: 10.1136/pn-2025-004882
Patxi Zavala Gottau, Francisco Caiza-Zambrano, Luis Ariel Miquelini, Maria Sol Pacha, Diego Tripodi, Yemina Neme, Mauricio Agustin Benetti, Andrea Dolores Ezquiaga, Mauricio Jiménez, Andrea Gomez, Félix Vigovich, Oscar Adolfo Martínez

Linear scleroderma 'en coup de sabre' is a rare condition characterised by inflammation and fibrosis of the skin and underlying tissues; it rarely presents in adults. The adult-onset form seldom has extracutaneous manifestations, but those that occur are usually neurological. A 43-year-old woman with epilepsy had a scar-like lesion on her forehead. The MR brain scan showed focal cortical atrophy and white matter changes on the same side as the skin lesion. Skin biopsy identified hyaline sclerosis of the reticular dermis consistent with scleroderma. Her clinical condition stabilised on mycophenolate mofetil. Although uncommon in adults, it is important to consider this rare disease in adults with scalp lesions who have epileptic seizures.

线性硬皮病是一种罕见的疾病,其特征是皮肤和底层组织的炎症和纤维化;它很少出现在成人身上。成人发病的形式很少有皮外表现,但那些发生通常是神经系统。一名患有癫痫症的43岁女性,额头上有一处疤痕状病变。MR脑部扫描显示局灶性皮质萎缩和与皮肤病变同侧的白质改变。皮肤活检发现网状真皮的透明硬化与硬皮病一致。她的临床情况在霉酚酸酯治疗后稳定下来。虽然在成人中不常见,但重要的是要考虑这种罕见的疾病在成人头皮病变有癫痫发作。
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引用次数: 0
Radiologically isolated syndrome: a practical guide. 放射孤立综合征:实用指南。
IF 2.3 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-20 DOI: 10.1136/pn-2025-004811
Audrey Reynolds, Rory O'Donohoe, Chris McGuigan

Radiologically isolated syndrome (RIS) is the incidental finding of MRI evidence of demyelination suggesting multiple sclerosis in someone with no corresponding clinical signs or symptoms. RIS can be challenging for neurologists to manage. In this article, we discuss its diagnosis and misdiagnosis and how to approach and manage a suspected case, as well as potential therapies. We also discuss how the updated 2024 McDonald criteria have changed the diagnosis and management of some patients with RIS.

放射孤立综合征(RIS)是在没有相应临床体征或症状的情况下偶然发现脱髓鞘提示多发性硬化症的MRI证据。RIS对神经科医生来说是一个挑战。在本文中,我们讨论其诊断和误诊,以及如何处理疑似病例,以及潜在的治疗方法。我们还讨论了更新的2024年麦当劳标准如何改变了一些RIS患者的诊断和管理。
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引用次数: 0
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