Journal of Medical Case Reports最新文献

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Shewanella putrefaciens, an emerging foe from climate change: a case report. 腐烂希瓦氏菌,气候变化的新敌人:一份病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-14 DOI: 10.1186/s13256-025-05100-w
Francesca Di Bartolomeo, Riccardo Ligresti, Sofia Pettenuzzo, Teresa Bini, Camilla Tincati, Giulia Carla Marchetti
{"title":"Shewanella putrefaciens, an emerging foe from climate change: a case report.","authors":"Francesca Di Bartolomeo, Riccardo Ligresti, Sofia Pettenuzzo, Teresa Bini, Camilla Tincati, Giulia Carla Marchetti","doi":"10.1186/s13256-025-05100-w","DOIUrl":"https://doi.org/10.1186/s13256-025-05100-w","url":null,"abstract":"<p><strong>Background: </strong>Shewanella putrefaciens is a Gram negative, facultatively anerobic bacterium commonly found in aquatic environments and is associated with decomposing organic matter. Although typically nonpathogenic, it has been recognized as an opportunistic pathogen capable of causing rare infections in humans, particularly immunocompromised individuals or those with underlying health conditions.</p><p><strong>Case presentation: </strong>We report the case of a 74-year-old white Italian female who developed a soft tissue infection after sustaining a leg injury and subsequently bathing in the coastal waters of Valencia, Spain. Despite initial treatment with amoxicillin/clavulanic acid and wound debridement, the infection persisted. Microbiological analysis revealed the presence of Shewanella putrefaciens and Bacteroides fragilis. The patient required a second-line antibiotic regimen with ciprofloxacin, which successfully resolved the infection, although the patient experienced chronic ankle edema owing to underlying lymphatic insufficiency.</p><p><strong>Conclusion: </strong>This case underscores several critical considerations: the emerging pathogenic potential of S. putrefaciens, the implications of environmental antibiotic resistance, and the increased risk of such infections in the context of global warming and rising sea temperatures. With climate change contributing to warmer aquatic environments, the proliferation of marine bacteria, such as S. putrefaciens, may lead to a growing number of opportunistic infections, emphasizing the need for vigilance in both clinical and environmental health settings.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"105"},"PeriodicalIF":0.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11995537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967958","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
Intestinal obstruction due to Ascaris lumbricoides in child: a case report. 儿童蛔虫致肠梗阻1例。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-10 DOI: 10.1186/s13256-025-05200-7
Supangat Supangat, Achmad Ilham Tohari, Rihhadatul Aisy, Muhammad Rijal Fahrudin Hidayat, Muhammad Yuda Nugraha, Nabil Athoillah, Nurul Ima Suciwiyati, Muhammad Ali Shodikin, Yunita Armiyanti
{"title":"Intestinal obstruction due to Ascaris lumbricoides in child: a case report.","authors":"Supangat Supangat, Achmad Ilham Tohari, Rihhadatul Aisy, Muhammad Rijal Fahrudin Hidayat, Muhammad Yuda Nugraha, Nabil Athoillah, Nurul Ima Suciwiyati, Muhammad Ali Shodikin, Yunita Armiyanti","doi":"10.1186/s13256-025-05200-7","DOIUrl":"https://doi.org/10.1186/s13256-025-05200-7","url":null,"abstract":"<p><strong>Background: </strong>Ascariasis in humans is one of the most significant neglected tropical diseases. Usually, the manifestation of ascariasis may vary in each case. In severe cases, ascariasis may lead to intestinal obstruction or perforation of the intestine due to the large number of worms. Here, we report a case of intestinal obstruction due to A. lumbricoides in a 3-year-old boy.</p><p><strong>Case presentation: </strong>A 3-year-old Maduranese boy was admitted to the pediatric division with constipation and an enlarged abdomen. During a day of in-hospital observation, the patient vomited worms, which were then identified, and he was diagnosed with ascariasis. The abdominal X-ray showed meteorism with suspected intestinal obstruction. The laboratory test showed anemia and leukocytosis. The exploration laparotomy and ileostomy were performed to extract the worms. The patient was given pyrantel pamoate and albendazole as antiparasitic treatment.</p><p><strong>Conclusion: </strong>Intestinal obstruction is a rare manifestation of ascariasis but still should be considered, especially in an endemic area. Detailed anamnesis and comprehensive therapy, including surgery and parasitic treatment, may be beneficial for the patient. Increasing hygiene and taking antihelminthic drugs every 6 months may reduce the infection and complications.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"171"},"PeriodicalIF":0.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11987414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022384","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
IUGR ambiguous genitalia in Iran: a case report. 伊朗IUGR暧昧的生殖器:一例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-10 DOI: 10.1186/s13256-025-05214-1
Mahsa Shirvani, Marzyeh Alipour, Ahmad Reza Mortajez
{"title":"IUGR ambiguous genitalia in Iran: a case report.","authors":"Mahsa Shirvani, Marzyeh Alipour, Ahmad Reza Mortajez","doi":"10.1186/s13256-025-05214-1","DOIUrl":"https://doi.org/10.1186/s13256-025-05214-1","url":null,"abstract":"<p><strong>Background: </strong>Pericentric inversion of Chromosome 9 is a common chromosomal abnormality, occasionally linked to clinical conditions such as ambiguous genitalia, warranting its inclusion in differential diagnoses. Sexual ambiguity is a tragic and highly distressing condition that imposes deep emotional and spiritual concerns on the family. Therefore, it is essential to adopt a rational and immediate approach, including clinical, hormonal, genetic, molecular, and radiographic investigations, to determine its cause and guide the therapeutic strategy.</p><p><strong>Case presentation: </strong>A 35-year-old gravida 1 Iranian woman at 37 weeks of pregnancy delivered a 1900-g newborn via cesarean section due to intrauterine growth restriction. The newborn exhibited ambiguous genitalia, including severe hypospadias and a micropenis. Karyotyping revealed a normal chromosomal count with a pericentric inversion of Chromosome 9 (46XY, inv (9) (p12q13)). Hormonal and ultrasound evaluations were normal, and no family history of sexual development disorders was noted.</p><p><strong>Conclusion: </strong>Pericentric inversion of Chromosome 9 can result in ambiguous genitalia, emphasizing the importance of karyotyping in the diagnostic evaluation for proper management and counseling.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"169"},"PeriodicalIF":0.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997349","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
Instrument retrieval using ultrasonics and minimally invasive guided endodontics using AReneto® system: a case report. 器械回收使用超声和微创引导牙髓治疗使用AReneto®系统:1例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-10 DOI: 10.1186/s13256-025-05121-5
Varun Prabhuji, Pucha Sai Manaswini, A Srirekha, C Champa, S Archana
{"title":"Instrument retrieval using ultrasonics and minimally invasive guided endodontics using AReneto<sup>®</sup> system: a case report.","authors":"Varun Prabhuji, Pucha Sai Manaswini, A Srirekha, C Champa, S Archana","doi":"10.1186/s13256-025-05121-5","DOIUrl":"https://doi.org/10.1186/s13256-025-05121-5","url":null,"abstract":"<p><strong>Introduction: </strong>Instrument separation during root canal treatment presents a significant challenge, particularly in the apical third of the canal. This case report highlights the use of ultrasonics for retrieving a separated instrument and demonstrates the application of augmented reality using the AReneto<sup>®</sup> system to perform a minimally invasive guided access opening through the dental prosthesis, allowing root canal treatment to be performed without the need for prosthesis removal.</p><p><strong>Case presentation: </strong>A 61-year-old Indian male presented with pain in the lower left front teeth, following root canal treatment on tooth 33. Clinical examination revealed tenderness on percussion, and radiographs showed a separated instrument in the apical third of tooth 33, along with periapical radiolucency involving teeth 33 and 32. Ultrasonics under magnification were used to successfully retrieve the separated instrument from tooth 33, followed by sectional obturation and anatomic post placement. Subsequently, guided access for root canal treatment was performed on tooth 32 using the AReneto<sup>®</sup> system without removing the existing porcelain-fused-to-metal bridge. The procedure was guided using augmented reality to assist the access opening through the bridge. At the 6-month follow-up, the patient was asymptomatic, and radiographs indicated healing.</p><p><strong>Conclusion: </strong>The use of ultrasonics combined with magnification enabled effective instrument retrieval, while the AReneto<sup>®</sup> system facilitated a minimally invasive approach to root canal treatment through an existing prosthesis. This case demonstrates the potential of augmented reality technology to enhance precision and preserve tooth structure in endodontics. Further advancements in augmented reality-guided systems will likely expand their clinical utility across various dental treatments.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"172"},"PeriodicalIF":0.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11987255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006101","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
The mystery of the missing P waves: a case report. 失踪的P波之谜:一个案例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-10 DOI: 10.1186/s13256-025-05212-3
Yuanguo Chen, Haibo Zhang, Changli Han, Peng Bai
{"title":"The mystery of the missing P waves: a case report.","authors":"Yuanguo Chen, Haibo Zhang, Changli Han, Peng Bai","doi":"10.1186/s13256-025-05212-3","DOIUrl":"https://doi.org/10.1186/s13256-025-05212-3","url":null,"abstract":"<p><strong>Background: </strong>This case highlights the diagnostic challenges of atrial flutter with concealed atrial activity on surface electrocardiograms, emphasizing the necessity of invasive electrophysiological study to avoid unnecessary pacemaker implantation in patients with structural heart disease-a scenario rarely documented in current literature.</p><p><strong>Case presentation: </strong>A 60-year-old ​Chinese woman with rheumatic mitral stenosis and prior maze procedure presented with fatigue and bradycardia (heart rate, 47 beats per minute). Surface electrocardiograms (including modified Lewis leads) revealed no discernible P waves, while echocardiography demonstrated atrial mechanical silence. Electrophysiological study identified cavotricuspid isthmus-dependent atrial flutter with extensive right atrial low-voltage zones (voltage < 0.5 mV), explaining the absent surface atrial activity. Radiofrequency ablation achieved bidirectional isthmus block, restoring sinus rhythm (heart rate, 59 beats per minute) without pacemaker requirement.</p><p><strong>Conclusion: </strong>In patients with bradycardia and electromechanical atrial dissociation, electrophysiological study proves indispensable for detecting atrial flutter obscured by severe fibrosis. This approach prevents inappropriate pacemaker implantation while restoring physiological rhythm, establishing a paradigm for managing complex arrhythmias in structural heart disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"170"},"PeriodicalIF":0.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970188","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
An infant inflammatory myofibroblastoma with TFG-ROS1 fusion: a case report. 婴儿炎症性肌成纤维细胞瘤合并TFG-ROS1融合1例。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-09 DOI: 10.1186/s13256-025-05203-4
Hui Jiang, Junnan Jiang, Baidong Feng, Yaxian Yang, Qi Li, Bin Lian, Xiao Ding, Zhaodong Pan, Mingjian Huang, Zhaowen Pan, Jian Huang
{"title":"An infant inflammatory myofibroblastoma with TFG-ROS1 fusion: a case report.","authors":"Hui Jiang, Junnan Jiang, Baidong Feng, Yaxian Yang, Qi Li, Bin Lian, Xiao Ding, Zhaodong Pan, Mingjian Huang, Zhaowen Pan, Jian Huang","doi":"10.1186/s13256-025-05203-4","DOIUrl":"https://doi.org/10.1186/s13256-025-05203-4","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myofibroblastic tumors are extremely rare in the neck of infants, and pathological diagnosis may be challenging. Kinase fusions play an important role in the biology of many inflammatory myofibroblastic tumors, becoming an effective diagnostic method.</p><p><strong>Case presentation: </strong>In this report, we present the case of an East Asian (Han Chinese) patient with rare infant inflammatory myofibroblastoma. DNA-based but not RNA-based next-generation sequencing was used to identify its targetable ROS1 fusions.</p><p><strong>Conclusion: </strong>This case highlights the importance of simultaneously detecting DNA and RNA using next-generation sequencing in clinical practice.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"167"},"PeriodicalIF":0.9,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11984052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988333","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
Melioidosis with venous thrombosis and cellulitis in the left lower limb: a case report. 左下肢类鼻疽伴静脉血栓形成及蜂窝织炎1例。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-09 DOI: 10.1186/s13256-025-05190-6
Anik Palit, Mahmudur Rahman, Md Mahfuzer Rahman, Zubair Akhtar, Mohammed Ziaur Rahman, Muntasir Alam, Arpita Shyama Deb, Sukanta Chowdhury, Md Mahfuzur Rahman, Pritimoy Das, Fahmida Chowdhury, Tanzir Ahmed Shuvo
{"title":"Melioidosis with venous thrombosis and cellulitis in the left lower limb: a case report.","authors":"Anik Palit, Mahmudur Rahman, Md Mahfuzer Rahman, Zubair Akhtar, Mohammed Ziaur Rahman, Muntasir Alam, Arpita Shyama Deb, Sukanta Chowdhury, Md Mahfuzur Rahman, Pritimoy Das, Fahmida Chowdhury, Tanzir Ahmed Shuvo","doi":"10.1186/s13256-025-05190-6","DOIUrl":"https://doi.org/10.1186/s13256-025-05190-6","url":null,"abstract":"<p><strong>Background: </strong>Melioidosis, which is caused by Burkholderia pseudomallei, is a disease with a high case fatality rate and a wide variety of disease manifestations causing diagnostic dilemmas for medical professionals. Risk factors such as diabetes contribute to a worse prognosis if not treated with appropriate antibiotics during the course of management. This case report describes a diabetic melioidosis case with a rare presentation of venous thrombosis of the lower limb and a successful course of treatment.</p><p><strong>Case presentation: </strong>The patient was a 48-year-old Bangladeshi male who was admitted with gradually increasing left knee pain and intermittent high-grade fever for 7 days. On examination, he had a palpable spleen, high body temperature (102 °F), and pitting edema in the left lower limb during admission. He was treated with empiric meropenem on admission considering his serious illness. Doppler ultrasound of the left lower limb revealed superficial venous thrombosis and thrombophlebitis involving the long saphenous vein and superficial veins of saphenous territory below the knee. The patient was enrolled as an eligible case in a research study called the Acute Febrile Illness study. Blood culture confirmed the diagnosis as melioidosis. Doxycycline was added to his treatment regimen when the research study team informed the treating physician at the hospital about the diagnosis of melioidosis. He was discharged with cotrimoxazole, which was advised to be taken for 3 months.</p><p><strong>Conclusion: </strong>This case report shows us the lack of diagnostics to detect melioidosis in hospital settings in Bangladesh. The successful treatment outcome proved the importance of routine surveillance for rare or unusual diseases, in addition to endemic pathogens. In addition, training is essential to improve knowledge and raise awareness among clinicians about the clinical diagnosis and management of melioidosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"168"},"PeriodicalIF":0.9,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11983746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007625","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
Benign versus sinister aetiologies underlying basal cistern subarachnoid haemorrhage: a case series. 基底池蛛网膜下腔出血的良性与恶性病因:一个病例系列。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-08 DOI: 10.1186/s13256-024-04950-0
Gilbert Gravino, Nasr Abdelsalam, Jay Patel, Saad Aamir, Feyi Babatola, Arun Chandran
{"title":"Benign versus sinister aetiologies underlying basal cistern subarachnoid haemorrhage: a case series.","authors":"Gilbert Gravino, Nasr Abdelsalam, Jay Patel, Saad Aamir, Feyi Babatola, Arun Chandran","doi":"10.1186/s13256-024-04950-0","DOIUrl":"10.1186/s13256-024-04950-0","url":null,"abstract":"<p><strong>Background: </strong>Subarachnoid hemorrhage in the basal cisterns is usually identified on an unenhanced computed tomography scan of the head in patients presenting acutely with a characteristic sudden onset headache.</p><p><strong>Case presentation: </strong>Using imaging examples from our tertiary neurosciences center, we present six cases demonstrating a variety of causes for subarachnoid hemorrhage in the basal cisterns, ranging from benign to sinister causes. These include a venous perimesencephalic hemorrhage (35 years, female), pontine perforator aneurysm (54 years, male), vertebral artery dissection (69 years, male), cervical dural arteriovenous fistula (65 years, male), posterior fossa arteriovenous malformation (45 years, male), and vertebral artery aneurysm (78 years, female). Ethnically, all these patients were white. Specific imaging features are described and demonstrated.</p><p><strong>Conclusion: </strong>A balance between avoiding excessive investigation and overlooking what may be a mimic of a venous perimesencephalic hemorrhage is important. To refine and establish more definitive indications on when to perform computed tomography angiogram, digital subtraction angiography, delayed angiography and magnetic resonance imaging in this context requires future research to focus on large-scale prospective multicenter studies with robust data.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"166"},"PeriodicalIF":0.9,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11980157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811498","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
Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report. 不寻常年龄和非典型部位的胚胎性横纹肌肉瘤一例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-07 DOI: 10.1186/s13256-025-05202-5
Ayla Kouli, Mouna Baddoura, Miriam Laflouf, Seham Sulaiman
{"title":"Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report.","authors":"Ayla Kouli, Mouna Baddoura, Miriam Laflouf, Seham Sulaiman","doi":"10.1186/s13256-025-05202-5","DOIUrl":"10.1186/s13256-025-05202-5","url":null,"abstract":"<p><strong>Background: </strong>Rhabdomyosarcoma is classified into histologic subtypes: embryonal, alveolar, pleomorphic, spindle, and mixed-type. Embryonal rhabdomyosarcoma is mainly a disease of children. It occurs rarely in adults. When rhabdomyosarcoma is found in adults, it usually exhibits worse outcomes than in pediatric patients.</p><p><strong>Case presentation: </strong>We present a case report of a 20-year-old Arab woman who presented with generalized musculoskeletal pain, unintended weight loss, and excessive night sweats. There was no remarkable history of medications, diseases, or surgeries. A positron emission tomography scan showed multiple osteolytic lesions with metabolic activity, as well as pleural effusion and soft tissue mass around the thoracic area. Following this, a bone marrow biopsy was performed and showed metastatic embryonal rhabdomyosarcoma according to immunochemistry stainings. Chemotherapy was started with 3 doses of vincristine, actinomycin D, and cyclophosphamide regimen for 3 months, after which a positron emission tomography scan showed a total disappearance of the soft tissue mass, but revealed metabolic activity of new foci. Therefore, the patient took another 3 doses of the vincristine, actinomycin D, and cyclophosphamide regimen, and received a total of 30 Gy of radiotherapy on the new foci.</p><p><strong>Conclusion: </strong>This paper describes a case of a patient diagnosed with adult rhabdosmyosarcoma at an uncommon age and in an uncommon site; therefore, it is important to consider rhabdomyosarcoma in the differential diagnosis of patients given an abnormal presentation and unexplained findings. Early detection of the disease, which is difficult with nonspecific symptoms, is crucial for improving outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"164"},"PeriodicalIF":0.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11977918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803630","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
Hidden behind the mask: misdiagnosis of a ruptured sinus of Valsalva aneurysm in a young male patient-a case report and review of literature. 隐藏在面具背后:一名年轻男性患者瓦尔萨尔瓦窦动脉瘤破裂的误诊--病例报告和文献综述。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-07 DOI: 10.1186/s13256-025-05143-z
Junqiao Mi, Xiaodan Cao, Jinfeng Zhou
{"title":"Hidden behind the mask: misdiagnosis of a ruptured sinus of Valsalva aneurysm in a young male patient-a case report and review of literature.","authors":"Junqiao Mi, Xiaodan Cao, Jinfeng Zhou","doi":"10.1186/s13256-025-05143-z","DOIUrl":"10.1186/s13256-025-05143-z","url":null,"abstract":"<p><strong>Background: </strong>Sinus of Valsalva aneurysm is a relatively rare disease accompanied by several severe complications. Patients with an unruptured sinus of Valsalva aneurysm are usually asymptomatic or present with symptoms of dyspnea, easy fatigability, palpitations, or chest pain, whereas a ruptured sinus of Valsalva aneurysm may cause severe symptoms including heart failure, myocardial ischemia, or even cardiac arrest. Misdiagnosis is common in clinical practice owing to the rarity of sinus of Valsalva aneurysm and its highly variable, often atypical clinical presentations, which can mimic more common conditions.</p><p><strong>Case presentation: </strong>We present a rare and interesting case of a patient with a ruptured sinus of Valsalva aneurysm, a 33-year-old Chinese man who was misdiagnosed owing to a series of atypical symptoms, including eyelid and facial edema and dyspepsia. Fortunately, the patient was finally diagnosed with ruptured sinus of Valsalva aneurysm, and transthoracic echocardiography showed the noncoronary sinus of Valsalva aneurysm, which ruptured into the right atrium, accompanied by cardiac enlargement and pericardial effusion.</p><p><strong>Conclusion: </strong>This case highlights the importance of obtaining a complete history and a standardized physical examination, and emphasizes the need to consider ruptured sinus of Valsalva aneurysm in young patients presenting with sudden heart failure without a prior cardiac history, and that transthoracic echocardiography is important in providing an accurate and rapid sinus of Valsalva aneurysm diagnosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"163"},"PeriodicalIF":0.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803631","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
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