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Thalamic and dentate nuclei involvement in an infant with propofol related infusion syndrome: A case report
Pub Date : 2024-12-01 DOI: 10.1016/j.hmedic.2024.100141
Tomas Leng , Bowen Song , Benjamin L. Hamel , Matthew Di Giusto , Marc Patterson
Propofol related infusion syndrome is a rare and potentially lethal complication of propofol infusion. The syndrome is clinically characterized by multiorgan failure and brain injury has also been reported. We report the case of symmetric thalami, innominate substance and dentate nuclei involvement with left middle cerebral artery stroke in a five-month-old infant who presented with multiorgan failure concerning for propofol related infusion syndrome.
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引用次数: 0
Gorlin-Goltz syndrome – Report of a case with review of literature 戈林-戈尔茨综合征--一例病例报告及文献综述
Pub Date : 2024-11-17 DOI: 10.1016/j.hmedic.2024.100137
Snehanjan Sarangi , Basudev Mahato , Samir Mandal , Shreya S. Saha
Gorlin-Goltz syndrome (GGS), also known as the basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome (NBCCS), is a multisystem autosomal dominant disorder, characterized by the presence of numerous odontogenic keratocysts (OKC), along with variable cutaneous, dental, skeletal, muscular, neurological, sexual and ophthalmologic anomalies. Mostly mutation of the patched 1 (PTCH1) gene is responsible, while in a few instances germline mutation of suppressor of fused homolog (SUFU) gene is evident. Timely diagnosis and proper management of the various systemic abnormalities associated with NBCCS, is of utmost significance, owing to its susceptibility towards malignant transformation to basal cell carcinoma (BCC). Herein, we describe GGS in a 22 years old male patient, with relevant diagnostic aspects.
戈林-戈尔茨综合征(GGS)又称基底细胞痣综合征(BCNS)或痣样基底细胞癌综合征(NBCCS),是一种多系统常染色体显性遗传病,其特征是存在大量牙源性角化囊肿(OKC),同时伴有不同程度的皮肤、牙齿、骨骼、肌肉、神经、性和眼科异常。大多数情况下,病因是斑块 1(PTCH1)基因突变,少数情况下,融合同源基因抑制剂(SUFU)基因的种系突变也很明显。由于 NBCCS 易恶变为基底细胞癌 (BCC),因此及时诊断和妥善处理与 NBCCS 相关的各种系统异常至关重要。在此,我们描述了一名 22 岁男性患者的 GGS 以及相关诊断方面的情况。
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引用次数: 0
Overlap of nephrotic syndrome with nephritic syndrome and its relation to microscopic polyangiitis in a seventeen-year-old young female 一名 17 岁年轻女性的肾病综合征与肾炎综合征的重叠及其与显微镜下多血管炎的关系
Pub Date : 2024-11-15 DOI: 10.1016/j.hmedic.2024.100133
Bilawal Abbas , Fiza Shafi , Muhammad Usama bin Shabbir , Sijel Husseini
The medical condition termed as nephrotic syndrome (NS) is defined by excessive excretion of proteins in the urine, called proteinuria, and lack of circulating albumin, called hypoalbuminemia. The value for proteinuria in NS is more than 40 mg/m^2 per hour, and the cut-off value for albumin is less than 30 g/L. A rare form of vasculitis, called microscopic polyangiitis mainly affects the kidneys and lungs. We have an instance of a seventeen-year-old girl with the involvement of the renal and central nervous systems as a manifestation of microscopic polyangiitis on the background of overlap. Renal biopsies and perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) suggested microscopic polyangiitis. After receiving cyclophosphamide and pulse steroids, the patient's symptoms resolved, and the patient was discharged. To help with early disease detection and treatment, this case emphasizes the importance of considering ANCA-associated vasculitis during diagnostic processes and highlights the concept of nephrotic-nephritic overlap.
肾病综合征(NS)是指尿液中蛋白质排泄过多,称为蛋白尿,而循环白蛋白缺乏,称为低白蛋白血症。肾病综合征的蛋白尿值为每小时 40 毫克/米^2 以上,白蛋白的临界值为 30 克/升以下。一种罕见的血管炎称为显微镜下多血管炎,主要累及肾脏和肺部。我们有一个 17 岁女孩的病例,她的肾脏和中枢神经系统均受累,这是显微镜下多血管炎重叠背景下的一种表现。肾活检和核周抗中性粒细胞胞浆抗体(p-ANCA)提示她患有显微镜下多血管炎。在接受环磷酰胺和脉冲类固醇治疗后,患者的症状缓解并出院。为了帮助早期发现和治疗疾病,本病例强调了在诊断过程中考虑 ANCA 相关血管炎的重要性,并突出了肾病-肾炎重叠的概念。
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引用次数: 0
Unmasking parvovirus B19: An atypical case of hepatitis with rash and arthralgia 揭开 parvovirus B19 的神秘面纱:伴有皮疹和关节痛的非典型肝炎病例
Pub Date : 2024-11-15 DOI: 10.1016/j.hmedic.2024.100138
Antonio Al Hazzouri , Christopher Sleiman , Rose-Mary Daou , Karam Karam , Elias Fiani
Parvovirus B19 is a common virus, typically known for causing erythema infectiosum in children and polyarthritis in adults. In rare cases, parvovirus can cause hepatitis. We present the case of a 40-year-old previously healthy woman who presented with fever, fatigue, arthralgia, and a reticular erythematous rash. Physical examination revealed mild hepatomegaly and right upper quadrant tenderness. Further laboratory analysis was unremarkable except for elevated liver enzymes. Viral serologies for hepatotrophic viruses were negative, but parvovirus B19 IgM and IgG were positive and suggestive of parvovirus B19-induced hepatitis. In the medical literature, parvovirus B19 has been associated with acute and fulminant hepatitis, especially in immunocompromised patients. The outcomes can range from asymptomatic transaminase elevations to liver failure requiring transplantation. Nonetheless, our case highlights the possibility of atypical infection with no hematological abnormalities. It is important to recognize and treat parvovirus B19 as a potential cause of hepatitis, regardless of classic presentations or hematological results.
Parvovirus B19 是一种常见的病毒,通常在儿童中引起感染性红斑,在成人中引起多发性关节炎。在极少数情况下,副病毒可引起肝炎。我们为您介绍一例 40 岁的健康女性病例,她出现发热、乏力、关节痛和网状红斑皮疹。体检发现轻度肝肿大和右上腹压痛。进一步的实验室分析除了肝酶升高外没有其他异常。肝营养病毒的病毒血清学检测结果为阴性,但 parvovirus B19 IgM 和 IgG 呈阳性,提示为 parvovirus B19 引起的肝炎。在医学文献中,副病毒 B19 与急性和暴发性肝炎有关,尤其是在免疫力低下的患者中。结果可能从无症状转氨酶升高到需要移植的肝功能衰竭不等。不过,我们的病例强调了无血液学异常的非典型感染的可能性。重要的是,无论典型表现或血液学结果如何,都要将 parvovirus B19 作为肝炎的潜在病因加以识别和治疗。
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引用次数: 0
A rare case of neonatal measles: Reevaluating maternal immunity in the vaccination era 新生儿麻疹罕见病例:重新评估疫苗接种时代的母体免疫力
Pub Date : 2024-11-14 DOI: 10.1016/j.hmedic.2024.100134
Faiqa Taj , Chitturi Sai Sujana , Jawaria Amin , Babar Naeem

Background

Measles is a highly contagious, vaccine-preventable viral disease characterized by fever, rash, and respiratory symptoms. While measles is generally rare in neonates due to the protective effect of transplacental maternal antibodies, cases in early infancy can occur, raising concerns about the efficacy of maternal immunity.

Case presentation

We report a case of a 15-day-old male neonate who presented with high-grade fever, maculopapular rash, and respiratory distress. Despite the mother’s vaccination history, the infant was diagnosed with measles through serological testing. The disease progressed rapidly, leading to severe respiratory compromise and significant ocular involvement, requiring intensive care management.

Conclusion

This case underscores potential gaps in neonatal protection, even in infants of vaccinated mothers, suggesting that waning maternal immunity may result in insufficient antibody transfer. It highlights the need for re-evaluating vaccination strategies in women of reproductive age and emphasizes the importance of stringent infection control measures in postpartum care settings to prevent neonatal measles.
背景麻疹是一种传染性极强、可通过接种疫苗预防的病毒性疾病,以发热、皮疹和呼吸道症状为特征。虽然由于经胎盘母体抗体的保护作用,麻疹一般很少发生在新生儿身上,但婴儿早期也会出现麻疹病例,这引起了人们对母体免疫有效性的担忧。尽管母亲有疫苗接种史,但通过血清学检测,婴儿被确诊为麻疹。该病例强调,即使是接种过疫苗的母亲所生的婴儿,对新生儿的保护也可能存在缺陷,这表明母体免疫力下降可能导致抗体转移不足。它强调了重新评估育龄妇女疫苗接种策略的必要性,并强调了在产后护理环境中采取严格的感染控制措施以预防新生儿麻疹的重要性。
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引用次数: 0
Total hip arthroplasty as a single procedure for subtrochanteric femur fracture with concurrent hip osteoarthritis: A case report 股骨转子下骨折并发髋关节骨性关节炎的全髋关节置换术:病例报告
Pub Date : 2024-11-14 DOI: 10.1016/j.hmedic.2024.100131
Adam Maestas , Parsa Charkhchi , Farbod Malek
Femoral subtrochanteric (ST) fractures have a bimodal age distribution and often the result of high-energy trauma in young patients and minor trauma in elderly patients. Intramedullary nailing (IMN) has been the mainstay for repair and is favorable over fixed angle plating due to greater stability and decreased complications. Many elderly patients with femoral fractures also suffer from other general bone-related comorbidities such as osteoarthritis (OA). Traditionally, concurrent ST femur fractures and severe hip osteoarthritis have been treated separately, but there is growing evidence supporting the use of total hip arthroplasty (THA) as a viable treatment choice. Here the case of a 71-year-old female with a right femoral ST spiral fracture and advanced hip OA is presented. The patient was treated for her fracture and hip OA simultaneously through a THA with a long stem prosthesis and FiberTape cerclage wires. The patient followed up in good condition and was able to ambulate with the assistance of a walker then transitioned to a cane. It is proposed that patients with ST femur fractures and hip OA would significantly benefit from THA as a single procedure, and its consideration is recommended in future cases with similar presentations.
股骨转子下(ST)骨折呈双峰年龄分布,通常是年轻患者高能量创伤和老年患者轻微创伤的结果。髓内钉(IMN)一直是主要的修复方法,与固定角钢板相比,其稳定性更高,并发症更少。许多股骨骨折的老年患者还患有骨关节炎(OA)等其他与骨相关的并发症。传统上,并发 ST 股骨骨折和严重的髋关节骨关节炎是分开治疗的,但越来越多的证据支持将全髋关节置换术(THA)作为一种可行的治疗选择。这里介绍的是一名 71 岁女性的病例,她患有右股骨 ST 螺旋形骨折和晚期髋关节 OA。患者同时接受了骨折和髋关节 OA 的治疗,采用长柄假体和 FiberTape 黏附钢丝进行全髋关节置换术。患者术后情况良好,能够在助行器的帮助下行走,然后过渡到使用拐杖。我们认为,股骨ST段骨折合并髋关节OA的患者可从THA单次手术中显著获益,建议今后在类似病例中考虑采用这种手术。
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引用次数: 0
A hidden duodenal neuroendocrine tumor: A case report 隐匿性十二指肠神经内分泌肿瘤:病例报告
Pub Date : 2024-11-13 DOI: 10.1016/j.hmedic.2024.100135
Karam Karam , Alaa Taha , Melissa Kyriakos Saad , Khaled Soukarieh , Rafca Challita , Joseph Amara , Elias Fiani , Elias Saikaly
Duodenal neuroendocrine tumor is a rare tumor mostly asymptomatic and found incidentally on radiography or endoscopy. Treatment options include endoscopic or surgical resection. The incidence of D-NET is increasing due to advanced detection techniques. The diagnosis of duodenal neuroendocrine tumor is a challenge due to the vague presenting symptoms. Herein, we report a rare case of duodenal neuroendocrine tumor in a middle-aged woman who presented with recurrent episodes of melena and anemia.
十二指肠神经内分泌瘤是一种罕见的肿瘤,大多无症状,在放射摄影或内窥镜检查中偶然发现。治疗方法包括内镜或手术切除。由于采用了先进的检测技术,D-NET 的发病率正在上升。由于十二指肠神经内分泌肿瘤的症状比较模糊,因此诊断难度很大。在此,我们报告了一例罕见的十二指肠神经内分泌肿瘤病例,患者为一名中年女性,反复出现血便和贫血。
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引用次数: 0
Hemorrhagic pre-Descemet’s membrane detachment after nonpenetrating deep sclerectomy 非穿透性深层巩膜切除术后的出血性前脱落
Pub Date : 2024-11-13 DOI: 10.1016/j.hmedic.2024.100136
Anna Soldevila , Marina García , Halima Berrada Zizzi , Francisco Ruíz Tolosa

Introduction

Hemorrhagic Descemet’s membrane (DM) detachment is a rare complication after glaucoma surgery. Related to nonpenetrating deep sclerectomy (NPDS), it is postulated to be caused due to blood reflux from the Schlemm’s canal or from a hemorrhage originated under the scleral flap. Different therapeutic approaches are described: from observation to Nd:YAG laser, ab interno membranotomy or evacuation through corneal incision. This condition might compromise the patient’s visual acuity so the treatment must be done early.

Case report

A 69-year-old black male underwent a phacoemulsification and a NPDS without incidents. In the early postoperative period, an hemorrhagic pre- Descemet detachment associated to an hemorrhagic bleb and an uncontrolled intraocular pressure (IOP) were observed. A Nd:YAG laser endothelial puncture and a suturolysis were performed without an optimal IOP control. After 10 days, an anterior chamber lavage combined with a needling achieved a complete transparent cornea and a controlled IOP without topical treatment.

Discussion

The pathophysiology of the presented case could be explained by an hemorrhage originated from vessels under the scleral flap due to an elevated intrableb pressure that favored the dissection of the weakest connected site, the DM. A Nd:YAG laser puncture was capital to avoid corneal staining and to lower the pressure from the filtration bleb (FB). Nevertheless, IOP was not controlled because of hypema and fibrosis of the trabeculo-descemetic membrane. After anterior chamber lavage and a needling with piercing of the TDM the IOP normalized and the FB was functional again.
The treatment in a hemorrhagic pre-Descemet detachment is personalized and it is very important to understand the pathophysiology to approach it properly.
导言出血性戴斯麦膜(DM)脱离是青光眼手术后的一种罕见并发症。它与非穿透性深巩膜切除术(NPDS)有关,推测是由于 Schlemm 管的血液回流或巩膜瓣下的出血引起的。目前有多种不同的治疗方法:从观察到 Nd:YAG 激光、ab interno 膜切开术或通过角膜切口排空。这种情况可能会影响患者的视力,因此必须及早治疗。病例报告 一位 69 岁的黑人男性接受了超声乳化手术和 NPDS,未发生意外。在术后早期,观察到出血性前去膜脱离,伴有出血眼泡和无法控制的眼压(IOP)。在无法控制眼压的情况下,进行了 Nd:YAG 激光内皮穿刺和缝合术。讨论本病例的病理生理学可以解释为巩膜瓣下血管出血,原因是巩膜瓣内压升高,有利于剥离最薄弱的连接部位--DM。为了避免角膜染色并降低滤过瓣(FB)的压力,医生采用了 Nd:YAG 激光穿刺。然而,由于小梁-止血膜水肿和纤维化,眼压没有得到控制。经过前房灌洗和穿刺 TDM 后,眼压恢复正常,滤过睫状体也恢复了功能。
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引用次数: 0
Gallbladder glandular proliferation mimicking an adenocarcinoma – A case report 胆囊腺增生模拟腺癌--病例报告
Pub Date : 2024-11-12 DOI: 10.1016/j.hmedic.2024.100132
Tiziana Salviato , Stefania Caramaschi , Giuseppe Esposito , Volkan Adsay
This case report presents a 39-year-old woman with a history of abdominal discomfort, gastroesophageal reflux disease, and previous biliary colic. Radiological investigations suggested a suspicious infundibular lesion in the gallbladder, prompting further examinations including magnetic resonance cholangiopancreatography, endoscopic retrograde cholangiopancreatography, and PET/CT scan. Despite inconclusive findings, the patient underwent robot-assisted cholecystectomy, revealing a fistula between the gallbladder infundibulum, and the common bile duct. Histological examination revealed a complex conglomerate of non-neoplastic processes, including gastric heterotopia, pseudo-pyloric glandular proliferation, and traumatic neuroma-like neural proliferation within the gallbladder wall. Discussion highlights the developmental anomalies and reactive mechanisms potentially underlying these findings, suggesting a connection between gastric heterotopia, glandular proliferation, and neural proliferation. The presence of three different 'pathological entities' in the same case represents the uniqueness of our case report, and the type of growth that sometimes appears to simulate an infiltration is an important element to consider as its misdiagnosis could lead to erroneous considerations and incorrect treatment.
本病例报告介绍了一名 39 岁的女性,她有腹部不适、胃食管反流病和胆绞痛病史。放射学检查提示胆囊内有可疑的胆囊底病变,促使患者接受进一步检查,包括磁共振胰胆管造影、内镜逆行胰胆管造影和 PET/CT 扫描。尽管没有得出结论,患者还是接受了机器人辅助胆囊切除术,结果发现胆囊底和胆总管之间有一个瘘管。组织学检查显示,胆囊壁内有复杂的非肿瘤性过程,包括胃异位、假性幽门腺增生和创伤性神经瘤样神经增生。讨论强调了这些发现背后潜在的发育异常和反应机制,表明胃异位、腺体增生和神经增生之间存在联系。在同一病例中出现三种不同的 "病理实体 "代表了我们病例报告的独特性,而有时看似模拟浸润的增生类型是需要考虑的重要因素,因为误诊可能导致错误的考虑和错误的治疗。
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引用次数: 0
Maintenance Electroconvulsive Therapy (ECT) for the management of bipolar disorder in pregnancy and the post-partum period: A case report 维持性电休克疗法(ECT)用于治疗妊娠期和产后双相情感障碍:病例报告
Pub Date : 2024-11-04 DOI: 10.1016/j.hmedic.2024.100128
Matthew Batliner , Rebecca Frost , Marnie Welch , Julia Knight
The management of bipolar disorder during pregnancy and in the post-partum period can often be a challenge for psychiatrists. Psychiatrists and patients must consider both the elevated risks of break-through mood episodes during pregnancy and the post-partum period as well as the potential side effects associated with ongoing pharmacotherapy. Electroconvulsive therapy (ECT) may offer an alternative to pharmacotherapy during pregnancy, though there is very limited information on the use of ECT as a monotherapy or maintenance treatment during pregnancy and in the post-partum period. We present a case of 32 year old woman with bipolar disorder who received maintenance ECT without adjunctive mood stabilizing medications throughout her pregnancy, per patient preference. ECT was found to provide adequate mood stabilization with no adverse effects noted throughout the pregnancy. During the post-partum period which coincided with a brief hiatus of ECTs, the patient experienced a manic episode which resulted in hospitalization, an acute ECT course, and re-initiation of mood stabilizing medications. This case provides a framework for considering the role of ECT as a maintenance option for pregnant patients and emphasizes the need for further information on protocols for ECT treatment in the post-partum period.
妊娠期和产后双相情感障碍的治疗往往是精神科医生面临的一项挑战。精神科医生和患者必须同时考虑到妊娠期和产后情绪爆发的高风险,以及持续药物治疗的潜在副作用。电休克疗法(ECT)可能是孕期药物治疗的替代疗法,但有关在孕期和产后使用电休克疗法作为单一疗法或维持疗法的资料非常有限。我们介绍了一例 32 岁的双相情感障碍女性患者,她在整个孕期都根据患者的意愿接受了电痉挛疗法的维持治疗,而没有辅助使用稳定情绪的药物。在整个孕期,电痉挛疗法都能充分稳定情绪,没有发现任何不良反应。产后期间,恰逢电痉挛疗法短暂中断,患者出现躁狂发作,导致住院治疗、急性电痉挛疗法疗程和重新开始服用情绪稳定药物。本病例为考虑将电痉挛疗法作为妊娠期患者的维持治疗方案提供了一个框架,并强调了进一步了解产后电痉挛疗法治疗方案的必要性。
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引用次数: 0
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