Diagnostic challenges

诊断挑战
  • 文章类型: Case Reports
    免疫球蛋白G4相关疾病(IgG4-RD)是一种全身性纤维炎性疾病,其特征是受影响组织内免疫球蛋白G4(IgG4)阳性浆细胞的明显浸润,有或没有升高的血清IgG4水平。由于诊断挑战,IgG4-RD的患病率仍未确定。因为这种情况经常无法识别或误诊。本报告描述了一名63岁男子的病例,该男子在经历了长达两年的难以捉摸的症状后最终被诊断出患有这种罕见疾病。最初表现为间歇性身体疼痛和波动性发热,他的病情逐渐演变为包括严重的右眶肿胀,伴有明显的压痛和瘀斑,他手臂上反复出现的非触痛结节,视力下降。对他的病史的详细回顾促使人们考虑IgG4-RD,导致血清人IgG4水平的测量,在1504mg/L(正常范围:39.2-864mg/L)时发现显着升高。根据他的诊断,开始糖皮质激素治疗(0.6mg/kg,持续一个月),导致积极的临床反应。该案例强调了在对表现为复杂,多系统症状。
    Immunoglobulin G4-related disease (IgG4-RD) is a systemic fibroinflammatory condition characterized by significant infiltration of immunoglobulin G4 (IgG4)-positive plasma cells within affected tissues, with or without elevated serum IgG4 levels. The prevalence of IgG4-RD remains largely undetermined due to diagnostic challenges, as the condition is frequently unrecognized or misdiagnosed. This report describes a case of a 63-year-old man who was ultimately diagnosed with this rare condition after an extensive two-year period of elusive symptoms. Initially presenting with intermittent body pains and fluctuating fever, his condition progressively evolved to include severe right orbital swelling with marked tenderness and ecchymosis, recurrent non-tender nodules on his arm, and diminished vision. A detailed review of his medical history prompted the consideration of IgG4-RD, leading to the measurement of serum human IgG4 levels, which were found to be significantly elevated at 1504 mg/L (normal range: 39.2-864 mg/L). Following his diagnosis, treatment with glucocorticoids (0.6 mg/kg for one month) was initiated, resulting in a positive clinical response. This case emphasizes the critical importance of considering less common conditions in the differential diagnosis of patients presenting with complex, multi-system symptoms.
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  • 文章类型: Case Reports
    肉芽肿性乳腺炎(GM)是一种罕见的,良性炎症性乳腺疾病,主要影响育龄妇女,通常模仿乳腺癌。由于非特异性影像学发现,诊断需要组织病理学检查。治疗包括抗生素,皮质类固醇,和手术,但是没有标准化的协议。这份自传病例报告描述了一名34岁的女性,在创伤后乳房肿块发嫩,最初误诊为单纯脓肿。尽管切开和引流,她出现了结节性红斑,持续发烧,和关节炎,对皮质类固醇有反应。进一步调查,包括超声引导活检和MRI,确认GM。用泼尼松龙和多西环素治疗复发症状,导致显著改善。本病例报告旨在强调与转基因相关的诊断挑战,强调进行详细的组织病理学检查以实现准确诊断的必要性。它还引起了对面临罕见和复杂诊断的患者的重大情感影响的关注。通过介绍这个案例,我们的目标是强调全面和多学科的患者护理方法在有效管理GM中的至关重要性.
    Granulomatous mastitis (GM) is a rare, benign inflammatory breast disease that predominantly affects women of childbearing age and often mimics breast carcinoma. The diagnosis requires histopathological examination due to nonspecific imaging findings. Treatment includes antibiotics, corticosteroids, and surgery, but no standardized protocols exist. This autobiographical case report describes a 34-year-old woman with a tender breast lump following trauma, initially misdiagnosed as a simple abscess. Despite incision and drainage, she developed erythema nodosum, persistent fever, and arthritis, which responded to corticosteroids. Further investigation, including an ultrasound-guided biopsy and MRI, confirmed GM. Recurrent symptoms were managed with prednisolone and doxycycline, leading to significant improvement. This case report aims to highlight the diagnostic challenges associated with GM, emphasizing the necessity for a detailed histopathological examination to achieve an accurate diagnosis. It also brings attention to the significant emotional impact on patients facing a rare and complex diagnosis. By presenting this case, we aim to highlight the critical importance of a comprehensive and multidisciplinary approach to patient care in managing GM effectively.
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  • 文章类型: Case Reports
    静脉汞中毒是一种罕见但严重的医疗紧急情况,通常是由于意外暴露或故意自残造成的。我们介绍了一名30岁的男性,有镰状细胞性贫血病史,并伴有高烧,呕吐,头晕,静脉注射水银后呼吸困难。诊断挑战包括将急性汞毒性的症状与他的镰状细胞特征的慢性症状区分开。显著升高的血清汞水平证实了诊断,高分辨率计算机断层扫描(HRCT)成像研究显示汞沉积和肺泡肺损伤。管理涉及汞中毒的解毒剂,包括无创通气和输血,与多个专业的咨询。患者表现出明显的临床改善,并通过计划的随访出院。该病例强调了诊断和管理静脉内汞中毒的复杂性,强调综合多学科方法对最佳患者预后的重要性。
    Intravenous mercury poisoning is a rare but severe medical emergency, often resulting from accidental exposure or intentional self-harm. We present the case of a 30-year-old male with a history of sickle cell anemia who presented with high-grade fever, vomiting, giddiness, and breathlessness following intravenous mercury self-administration. Diagnostic challenges included distinguishing symptoms of acute mercury toxicity from those of his chronic condition of sickle cell trait. Markedly elevated serum mercury levels confirmed the diagnosis, with high-resolution computed tomography (HRCT) imaging studies revealing mercury deposits and alveolar lung injury. Management involved antidote of mercury poisoning, including non-invasive ventilation and transfusions, with consultations from multiple specialties. The patient demonstrated significant clinical improvement and was discharged with scheduled follow-ups. This case underscores the complexity of diagnosing and managing intravenous mercury poisoning, highlighting the importance of a comprehensive multidisciplinary approach for optimal patient outcomes.
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  • 文章类型: Journal Article
    骨髓炎(OM)是骨科手术中的主要挑战。OM的诊断基于影像学和实验室检查,但它仍然存在一些局限性。因此,对致病机制的更深入理解可以增强诊断和治疗方法。OM的发病机制是基于对病原体感染的炎症反应,导致骨质流失。本研究旨在研究一组骨免疫血清生物标志物在临床OM方法中的潜在诊断作用。重点是新兴的感染生物标志物sCD14-ST,以及骨免疫和炎症血清生物标志物,为多面手的OM方法定义一个全面的生物标志物小组。结果,根据我们的知识,首次证明了sCD14-ST在OM患者中的诊断和早期预后作用,表明这种生物标志物可以解决当前实验室测试的局限性,比如传统的炎症标志物,诊断OM。此外,该研究强调了SuPAR的相关诊断作用,趋化因子CCL2,抗炎细胞因子IL-10,Wnt抑制剂DKK-1和硬化蛋白,和RANKL/OPG比率。此外,CCL2和SuPAR也表现出早期预后价值。
    Osteomyelitis (OM) is a major challenge in orthopedic surgery. The diagnosis of OM is based on imaging and laboratory tests, but it still presents some limitations. Therefore, a deeper comprehension of the pathogenetic mechanisms could enhance diagnostic and treatment approaches. OM pathogenesis is based on an inflammatory response to pathogen infection, leading to bone loss. The present study aims to investigate the potential diagnostic role of a panel of osteoimmunological serum biomarkers in the clinical approach to OM. The focus is on the emerging infection biomarker sCD14-ST, along with osteoimmunological and inflammatory serum biomarkers, to define a comprehensive biomarker panel for a multifaced approach to OM. The results, to our knowledge, demonstrate for the first time the diagnostic and early prognostic role of sCD14-ST in OM patients, suggesting that this biomarker could address the limitations of current laboratory tests, such as traditional inflammatory markers, in diagnosing OM. In addition, the study highlights a relevant diagnostic role of SuPAR, the chemokine CCL2, the anti-inflammatory cytokine IL-10, the Wnt inhibitors DKK-1 and Sclerostin, and the RANKL/OPG ratio. Moreover, CCL2 and SuPAR also exhibited early prognostic value.
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  • 文章类型: Journal Article
    背景:本研究旨在探讨人口统计学特征,诊断挑战,治疗模式,和线粒体疾病的照顾者负担。
    方法:本回顾性横断面研究纳入了2010年1月至2021年12月北京大学第一医院神经内科诊断为线粒体疾病的患者。一份涵盖人口统计特征的问卷,诊断困境,治疗,经济方面,和照顾者的压力,使用改良的Rankin量表(mRS)评估残疾。
    结果:共183名患者(平均年龄:16(IQR:12-25),49.72%的男性)被登记,包括124名儿科患者和59名成人患者。麦拉斯(106。57.92%)和Leigh综合征(37,20.22%)在线粒体疾病亚型中占主导地位。其中,132例(72.13%)患者最初被误诊为其他疾病,58(31.69%)患者在确认为线粒体疾病之前访问了2家医院,39例(21.31%)患者在确认为线粒体疾病之前曾去过3家医院。代谢调节剂是最常见的药物类型,包括几种膳食补充剂,如左旋肉碱(117,63.93%),辅酶Q10(102,55.74%),艾地苯醌(82,44.81%),和维生素(99,54.10%)适当的线粒体功能。母亲是儿童(36.29%)和成人(38.98%)的主要照顾者。mRS评分0~5分,92.35%的患者因线粒体疾病出现不同程度的残疾。儿童每月平均治疗费用为3000元人民币,成人为3100元人民币。
    结论:这项研究为线粒体疾病的特征和挑战提供了有价值的见解,这强调了提高意识的必要性,诊断效率,以及对患者和护理人员的全面支持。
    BACKGROUND: This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases.
    METHODS: This retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS).
    RESULTS: A total of 183 patients (mean age: 16 (IQR: 12-25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults.
    CONCLUSIONS: This study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.
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  • 文章类型: Journal Article
    媒介传播的病毒在全球范围内构成了重大的健康问题,因为它们通过被感染的节肢动物如蚊子和蜱的叮咬传播给人类。近年来,新出现和重新出现的媒介传播疾病引起了人们的关注,因为它们可以引起广泛的神经系统表现。媒介传播病毒的神经系统表现包括一系列临床表现,从轻度和自限性症状到严重和危及生命的疾病。常见的神经系统并发症包括病毒性脑炎,急性弛缓性麻痹,无菌性脑膜炎,和各种神经肌肉疾病。负责这些神经系统后遗症的特定病毒因地理区域而异,包括正氟病毒,寨卡病毒,登革热病毒,基孔肯雅病毒,日本脑炎病毒,和蜱传脑炎病毒.这篇综述着重于这些神经系统并发症的发病机理,并强调了媒介传播病毒侵入中枢神经系统并引发神经炎症反应的机制。讨论了早期发现神经系统表现的诊断挑战和策略。强调临床怀疑和高级实验室检测的重要性。
    Vector-borne viruses pose a significant health problem worldwide, as they are transmitted to humans through the bite of infected arthropods such as mosquitoes and ticks. In recent years, emerging and re-emerging vector-borne diseases have gained attention as they can cause a wide spectrum of neurological manifestations. The neurological manifestations of vector-borne viruses encompass a board spectrum of clinical manifestations, ranging from mild and self-limiting symptoms to severe and life-threatening conditions. Common neurological complications include viral encephalitis, acute flaccid paralysis, aseptic meningitis, and various neuromuscular disorders. The specific viruses responsible for these neurological sequelae vary by geographic region and include Orthoflavivirus nilense, Zika virus, dengue virus, chikungunya virus, Japanese encephalitis virus, and tick-borne encephalitis virus. This review focuses on the pathogenesis of these neurologic complications and highlights the mechanisms by which vector-borne viruses invade the central nervous system and trigger neuroinflammatory responses. Diagnostic challenges and strategies for early detection of neurological manifestations are discussed, emphasising the importance of clinical suspicion and advanced laboratory testing.
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  • 文章类型: Case Reports
    喉梭形细胞癌(SpCC),一种罕见的亚型,仅占0.5%的病例,由于其双相性质和与其他肿瘤的组织学相似性,对诊断提出了挑战。我们的研究探索了独特的观察,包括单克隆上皮起源和异常大的肿瘤引发呼吸窘迫。
    方法:在这份综合病例报告中,一名62岁的男性,有结核病史和广泛吸烟,出现呼吸窘迫和白色声带肿块,诊断为梭形细胞癌(SpCC)。喉镜和影像学评估显示,来自右声门上喉的肿块不明确。组织病理学检查和免疫组织化学证实了诊断。管理包括立即气管造口术,手术切除,辅助放射治疗,和化疗。定期随访和多学科方法有助于成功的三年结果,而不会复发。
    喉部梭形细胞癌(SpCC),历史上称为癌肉瘤和肉瘤样癌,罕见,主要影响中老年男性。这些双相肿瘤由上皮细胞和梭形细胞元件产生,并伴有声音嘶哑和吞咽困难等症状。风险因素包括烟草使用,酒精,和病毒感染。准确的诊断依赖于组织学和免疫组织化学分析。早期发现有助于获得有利的结果,5年生存率从65%到95%不等。
    结论:喉部梭形细胞癌,起源于上皮细胞和梭形细胞元素,需要通过组织学和免疫组织化学分析进行早期检测。早期诊断可导致明显乐观的五年生存预后。
    UNASSIGNED: Laryngeal Spindle Cell Carcinoma (SpCC), a rare subtype constituting only 0.5% of cases, poses diagnostic challenges due to its biphasic nature and histological resemblance to other neoplasms. Our study explores unique observations, including monoclonal epithelial origin and an unusually large tumor triggering respiratory distress.
    METHODS: In this comprehensive case report, a 62-year-old male with a history of tuberculosis and extensive smoking presented with respiratory distress and a white vocal cord mass, diagnosed as spindle cell carcinoma (SpCC). Laryngoscopic and imaging evaluations revealed an ill-defined mass originating from the right supraglottic larynx. Histopathological examination and immunohistochemistry confirmed confirming the diagnosis. The management included immediate tracheostomy, surgical resection, adjuvant radiation therapy, and chemotherapy. Regular follow-ups and a multidisciplinary approach contributed to a successful three-year outcome without recurrence.
    UNASSIGNED: Spindle Cell Carcinomas (SpCCs) of the larynx, historically termed carcinosarcoma and sarcomatoid carcinoma, are rare and predominantly affect middle-aged to elderly males. These biphasic tumors arise from both epithelial and spindle cell elements and present with symptoms like hoarseness and dysphagia. Risk factors include tobacco use, alcohol, and viral infections. Accurate diagnosis relies on histological and immunohistochemical analysis. Early detection facilitates favorable outcomes, with five-year survival rates ranging from 65 to 95%.
    CONCLUSIONS: Spindle Cell Carcinoma (SpCC) of the larynx, originating from epithelial and spindle cell elements, requires early detection through histological and immunohistochemical analysis. Early diagnosis leads to a notably optimistic five-year survival prognosis.
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  • 文章类型: Case Reports
    颈动脉间隙病变由于其不同的病因和不同的临床表现而提出了诊断挑战。本文批判性地回顾了颈动脉空间的解剖结构,并强调了这个复杂区域内的病理谱,由三个案例研究说明。这些病例进行了超声检查(USG),计算机断层扫描(CT),磁共振成像(MRI)。神经鞘瘤在平扫CT上出现不均匀低密度,在对比增强CT(CECT)上出现部分高密度,邻近船只的位移。迷走神经鞘瘤引起颈内动脉前内侧移位。副神经节瘤通常在CECT上均匀高密度,颈内动脉侧向位移时,颈动脉体起源。颈动脉间隙病变的治疗取决于肿瘤的可切除性;不可切除的肿瘤可通过化疗进行治疗。此概述增强了临床理解和诊断准确性,促进改善患者治疗颈动脉间隙病变的结果。
    Carotid space lesions present diagnostic challenges due to their diverse etiology and varied clinical manifestations. This article critically reviews the anatomy of the carotid space and highlights the spectrum of pathologies within this complex region, illustrated by three case studies. The cases were examined with ultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI). Schwannomas appeared heterogeneously hypodense on plain CT and partially hyperdense on contrast-enhanced CT (CECT), with displacement of adjacent vessels. Vagal-origin schwannomas caused the anteromedial displacement of the internal carotid artery. Paragangliomas were typically homogeneously hyperdense on CECT, with lateral displacement of the internal carotid artery when of carotid body origin. The management of carotid space lesions depends on the resectability of the tumors; unresectable tumors are managed with chemotherapy. This overview enhances clinical understanding and diagnostic accuracy, facilitating improved patient outcomes in managing carotid space lesions.
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  • 文章类型: Journal Article
    这篇详细的综述集中在腹膜后未分化的多形性肉瘤(UPS),一种特别侵袭性的软组织肉瘤,由于其罕见和复杂的表现,提出了独特的诊断和治疗挑战。通过记录一个新的腹膜后UPS病例,并对所有已知病例进行全面审查,本文旨在扩大现有的流行病学知识体系,分子发病机制,以及与这种罕见疾病相关的治疗策略。强调了诊断UPS的复杂性,因为它很少发生在腹膜后空间中,并且其组织学和分子复杂性常常使其识别变得复杂。这篇综述强调了对专业诊断方法的需求,包括先进的成像技术和组织病理学研究,准确诊断和分期疾病。在治疗方面,本文提倡结合手术的多学科方法,放疗和化疗,并根据患者个体进行调整,以优化治疗结果。这篇综述重点介绍了案例研究,这些案例研究说明了手术干预在治疗这些肿瘤中的有效性,并强调了实现清晰的手术切缘以防止复发的重要性。此外,这篇综述讨论了新的分子靶标的潜力以及对创新疗法的需求,这些疗法可以为受这种具有挑战性的肉瘤影响的患者带来新的希望。
    This detailed review focuses on retroperitoneal undifferentiated pleomorphic sarcoma (UPS), a particularly aggressive soft-tissue sarcoma that poses unique diagnostic and therapeutic challenges due to its rarity and complex presentation. By documenting a new case of retroperitoneal UPS and conducting a comprehensive review of all known cases, this article aims to expand the existing body of knowledge on the epidemiology, molecular pathogenesis, and treatment strategies associated with this rare disease. The complexity of diagnosing UPS is emphasized given that it rarely occurs in the retroperitoneal space and its histological and molecular complexity often complicates its recognition. This review highlights the need for specialized diagnostic approaches, including advanced imaging techniques and histopathological studies, to accurately diagnose and stage the disease. In terms of treatment, this paper advocates a multidisciplinary approach that combines surgery, radiotherapy and chemotherapy and tailors it to individual patients to optimize treatment outcomes. This review highlights case studies that illustrate the effectiveness of surgical intervention in the treatment of these tumors and emphasize the importance of achieving clear surgical margins to prevent recurrence. Furthermore, this review discusses the potential of new molecular targets and the need for innovative therapies that could bring new hope to patients affected by this challenging sarcoma.
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  • 文章类型: Case Reports
    作者介绍了一例迟发性慢性硬膜下血肿,在创伤性脑损伤后3年出现的罕见事件,伴有意想不到的尿失禁症状。慢性硬膜下血肿(CSDH)是一种众所周知的疾病,其特征是老,硬脑膜下液化的血液,通常是在轻微的头部外伤之后.然而,在没有诱发因素的年轻患者中,CSDH的非典型表现以及与尿失禁的关联挑战了传统的理解。本报告探讨了临床表现,放射学发现,以及对这种特殊情况的管理,为这个不寻常的演示提供有价值的见解。
    在本报告中,作者介绍了一名23岁男性的病例,病史不明显,没有先前的神经缺陷,他表现出持续的头痛,记忆障碍,左右迷失方向,含糊不清的讲话,和尿失禁,在过去的一个月里困扰着他。该患者有3年前道路交通事故造成的创伤性脑损伤史,最初没有相关症状。影像学检查显示,左额顶叶有一个巨大的异质性肿块,与慢性硬膜下血肿一致。该患者接受了手术疏散和血肿切除术,导致症状的成功解决。
    按惯例,在轻度头部创伤后的老年人中观察到慢性硬膜下血肿。然而,该病例强调了其在没有已知诱发因素的年轻患者中的延迟发生,从而挑战了传统的理解。这种情况强调了即使没有立即的神经功能缺损,也需要考虑延迟演示。尿失禁的意外症状强调了全面评估以了解CSDH的相关神经系统作用的必要性。手术方法对于诊断和治疗都至关重要,强调在这种非典型病例中迅速干预的重要性。
    这一特殊病例揭示了一名年轻患者在创伤性脑损伤后数年发生的迟发性慢性硬膜下血肿,而没有已知的危险因素。作为症状的尿失禁的存在进一步放大了这种情况的独特性。理解和识别CSDH的非典型表现对于准确诊断和及时干预至关重要。该报告强调了警惕和综合方法管理硬膜下血肿患者的重要性。特别是在意外的人口统计学和情况下,以确保最佳结果和患者福祉。
    UNASSIGNED: The authors present a case of a delayed chronic subdural haematoma, a rare occurrence that manifested 3 years after a traumatic brain injury, accompanied by an unexpected symptom of urinary incontinence. Chronic subdural haematoma (CSDH) is a well-known condition characterised by the accumulation of old, liquefied blood under the dura mater, usually following minor head trauma. However, the atypical presentation of CSDH in a young patient without predisposing factors and the association with urinary incontinence challenge conventional understanding. This report explores the clinical manifestations, radiological findings, and management of this exceptional case, providing valuable insights into this unusual presentation.
    UNASSIGNED: In this report, the authors present the case of a 23-year-old male with an unremarkable medical history, devoid of prior neurological deficits, who presented with persistent headaches, memory impairment, left-right disorientation, slurred speech, and urinary incontinence, troubling him for the past month. The patient had a history of a traumatic brain injury from a road traffic accident 3 years earlier, initially devoid of concerning symptoms. Imaging revealed a large heterogeneous mass lesion in the left fronto-parietal lobe consistent with a chronic subdural haematoma. The patient underwent surgical evacuation and excision of the haematoma, leading to the successful resolution of symptoms.
    UNASSIGNED: Conventionally, chronic subdural haematoma is observed in elderly individuals following minor head trauma. However, this case challenges the traditional understanding by highlighting its delayed occurrence in a young patient without known predisposing factors. This case emphasises the need to consider delayed presentations even without immediate neurological deficits. The unexpected symptom of urinary incontinence underscores the necessity of comprehensive evaluations to understand the associated neurological effects of CSDH. A surgical approach was crucial for both diagnosis and treatment, underscoring the significance of prompt intervention in such atypical cases.
    UNASSIGNED: This exceptional case sheds light on a delayed chronic subdural haematoma occurring years after traumatic brain injury in a young patient without known risk factors. The presence of urinary incontinence as a symptom further amplifies the uniqueness of this case. Understanding and recognising atypical presentations of CSDH is vital for accurate diagnosis and timely intervention. This report underscores the importance of vigilance and an integrated approach to managing patients with subdural haematomas, particularly in unexpected demographics and circumstances, to ensure optimal outcomes and patient well-being.
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