Journal of Medical Case Reports最新文献

{"title":"External auditory canal obstruction due to osteoma in a Syrian male patient: long-standing neglect and delayed diagnosis in a rural setting-a case report.","authors":"Bilal Hasan, Zulfiqar Hamdan, Lina Mohamad, Nagham Salem","doi":"10.1186/s13256-025-05501-x","DOIUrl":"https://doi.org/10.1186/s13256-025-05501-x","url":null,"abstract":"<p><strong>Introduction: </strong>Osteomas are benign bone tumors most commonly found in the external auditory canal, often mistaken for exostoses. While typically asymptomatic, larger osteomas can cause hearing loss, tinnitus, or canal obstruction.</p><p><strong>Case presentation: </strong>A 20-year-old Syrian male presented with progressive right-sided hearing loss and difficulty inserting ear-cleaning tools, persisting since age 13 years. Previous conservative management with canal dilation was unsuccessful. Examination revealed partial occlusion of the external auditory canal, and otoscopy was not possible owing to the stenosis. Axial and three-dimensional computed tomography scans identified a bony bridge connecting the mastoid and zygomatic processes, obstructing the canal. Audiometry confirmed conductive hearing loss (40-50 dB air-bone gap). The patient underwent postauricular excision, bony drilling, and canal reconstruction. Postoperatively, the air-bone gap resolved, and canal patency was restored. Histopathology confirmed a benign osteoma.</p><p><strong>Conclusion: </strong>Despite being benign, this condition warrants more research to address knowledge gaps and improve diagnosis, especially in underserved areas. Better understanding and awareness could significantly enhance patient management and quality of life.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"418"},"PeriodicalIF":0.8,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957447","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}

{"title":"Sarcomatoid transformation of uterine myoma identified through physical examination: a case report.","authors":"Xiaohui Zhou, Chenyu Wu, Mingli Shi","doi":"10.1186/s13256-025-05447-0","DOIUrl":"https://doi.org/10.1186/s13256-025-05447-0","url":null,"abstract":"<p><strong>Background: </strong>Uterine myomas are the most common benign tumors in the female reproductive system. The incidence of malignant transformation within a uterine myoma is low, but once it occurs, the prognosis is usually poor. The clinical symptoms of this disease are not specific, which can easily lead to misdiagnosis or missed diagnosis. Therefore, early diagnosis and timely treatment are crucial for improving the prognosis of patients.</p><p><strong>Case presentation: </strong>A 58-year-old married Chinese female patient had undergone annual check-ups at our hospital from 2007 to 2024, totaling 18 visits. During her initial examination in 2007, uterine fibroids were detected. She experienced natural menopause in 2010. By 2019, no significant changes were observed in the size or characteristics of the uterine fibroids. In 2020, follow-up examinations revealed an increase in the size of the fibroids, although the patient reported no significant subjective symptoms. A preliminary diagnosis of sarcomatous transformation of uterine myomas was made. Subsequently, the patient underwent surgical intervention at an alternative medical facility. Postoperative pathology confirmed the diagnosis of sarcomatous transformation of uterine fibroids. As of the time of writing, she has been attending regular follow-up appointments annually since then, with the most recent visit occurring in November 2024. Currently, the patient's overall health status remains stable, with no reported discomfort. Gynecological examinations and tumor markers (carbohydrate antigen 125 [CA125], carbohydrate antigen 199 [CA199], alpha-fetoprotein [AFP], and carcinoembryonic antigen [CEA]) are all within normal limits.</p><p><strong>Conclusion: </strong>The malignant transformation of a uterine myoma is a rare but extremely serious complication. Timely and accurate diagnosis, followed by appropriate therapeutic interventions, is crucial for improving patient prognosis. Clinicians should maintain heightened vigilance for postmenopausal uterine fibroids that do not undergo expected regression but instead demonstrate growth.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"420"},"PeriodicalIF":0.8,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12369247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957434","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}

{"title":"Correction: Disseminated synovial chondromatosis of the knee treated by open radical synovectomy using staged combined anterior and posterior approaches: a case report.","authors":"Sileshi Serebe Zeleke, Koyachew Abate Nigussie, Yeab Mulat Mesfin, Wodage Mesele Fentie, Michael Stein, Daniel Kassie Molla","doi":"10.1186/s13256-025-05497-4","DOIUrl":"10.1186/s13256-025-05497-4","url":null,"abstract":"","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"416"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882977","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}

{"title":"Correction: Heterotopic ossification following total wrist arthroplasty: a case report.","authors":"Sonja Verena Schmidt, Jannik Hinzmann, Maximilian Völlmecke, Christoph Wallner, Marcus Lehnhardt, Patrick Stefan Harenberg","doi":"10.1186/s13256-025-05487-6","DOIUrl":"10.1186/s13256-025-05487-6","url":null,"abstract":"","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"413"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882978","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}

{"title":"A presentation of posterior reversible encephalopathy syndrome after heart transplantation: a case report and review of literature.","authors":"Daniel Grandmougin, Tristan Ehrlich, Yihua Liu, Juliette Piccoli, Pan Dan, Elodie Phamisith, Francesco Ferraro, Cristina Sirbu, Irina Klemina, Emmanuelle Schmitt, Ismaël Yahia, Michael Massin, Benjamin Lefèvre, Carine Thivilier, Fabrice Vanhuyse, Stéphane Zuily, Juan-Pablo Maureira","doi":"10.1186/s13256-025-05498-3","DOIUrl":"10.1186/s13256-025-05498-3","url":null,"abstract":"<p><strong>Background: </strong>Posterior reversible encephalopathy syndrome is a rare disorder encompassing multiple neurological symptoms usually corroborated by specific neuro magnetic resonance imaging features. Posterior reversible encephalopathy syndrome may be triggered by multiple clinical situations such as blood pressure fluctuations, ischemic stroke, inflammatory and autoimmune disorders, renal failure, pre-eclampsia and eclampsia, hematopoietic stem cell transplantation, cytotoxic drugs, calcineurin inhibitors (cyclosporine A), and other immunosuppressants, as well as a wide range of surgical procedures (mainly cranial and solid organ transplantation). Although rare after cardiac transplantation, posterior reversible encephalopathy syndrome remains a major adverse event among feared complications promoted by use of immunosuppressive drugs. Clinical symptomatology, imaging features, and evolution of posterior reversible encephalopathy syndrome as well therapeutic strategy and identification of contributing factors will be discussed on the basis of our experience and data from literature review.</p><p><strong>Case presentation: </strong>We report the case of a 59-year-old white male patient who was diagnosed with posterior reversible encephalopathy syndrome 3 months after cardiac transplantation. Neurologic complications gradually worsened within weeks after transplantation from an immediate postoperative paraparesis to seizures and coma requiring specific management in the intensive care unit. Initial brain computed tomography and magnetic resonance imaging were not contributive. Ultimately, magnetic resonance imaging characteristics of posterior reversible encephalopathy syndrome gradually appeared 10 weeks after transplantation and were concomitant with epileptic seizures, coma, and occurrence of Shiga toxin-producing Escherichia coli-hemolytic-uremic syndrome in a context of blood pressure variations and administration of cyclosporine A.</p><p><strong>Conclusion: </strong>This case highlighted the necessity for clinicians to be familiar with posterior reversible encephalopathy syndrome to prevent misdiagnosis and optimize neurological outcomes. In addition, it emphasized the underlying non-dose-dependent neurotoxicity of cyclosporine A.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"411"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12362904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882975","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}

{"title":"Correction: Adenoid cystic carcinoma of the breast, from diagnosis to management: a case report.","authors":"Diana Marcela Mendoza-Urbano, Diana Canon, Gloria Ines Palazuelos, Fabio Torres, Beatriz Wills, Paula Andrea Rodriguez-Urrego","doi":"10.1186/s13256-025-05495-6","DOIUrl":"10.1186/s13256-025-05495-6","url":null,"abstract":"","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"415"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882976","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}

{"title":"Correction: Ibrutinib as treatment for Bing-Neel syndrome reclassified as glioblastoma: a case report.","authors":"Charlotte Dahl Gravesen, Iman Chanchiri, Ida Bruun Kristensen, Martin Bang Jensen, Frederik Severin Gråe Harbo, Rikke Hedegaard Dahlrot","doi":"10.1186/s13256-025-05494-7","DOIUrl":"10.1186/s13256-025-05494-7","url":null,"abstract":"","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"414"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882979","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}

{"title":"Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.","authors":"Víctor Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodriguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg","doi":"10.1186/s13256-025-05480-z","DOIUrl":"10.1186/s13256-025-05480-z","url":null,"abstract":"<p><strong>Background: </strong>Spastic ataxia Charlevoix-Saguenay is a rare autosomal recessive neurodegenerative disorder characterized by a combination of spasticity, ataxia, and peripheral neuropathy. Although predominantly affecting individuals of French-Canadian descent, the geographic distribution of spastic ataxia Charlevoix-Saguenay-associated cases is expanding.</p><p><strong>Case presentation: </strong>This study presents the case of a 3-year-old Uruguayan girl with suspected autosomal recessive spastic ataxia of Charlevoix-Saguenay, demonstrating the disease's presence in previously unreported locations. Exome sequencing analysis revealed two compound heterozygous variants in the sacsin molecular chaperone gene, one of which was novel.</p><p><strong>Conclusion: </strong>This report highlights the genomic heterogeneity of spastic ataxia Charlevoix-Saguenay and emphasizes the importance of investigating the genetic landscape of the disease in diverse populations. Understanding the underlying genetic alterations and their geographic distribution contributes to improved diagnosis, management, and potentially targeted therapies for individuals affected by spastic ataxia Charlevoix-Saguenay worldwide.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"412"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12363115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882980","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}

{"title":"Lactic acidosis in hemophagocytic syndrome: diagnostic and therapeutic challenges in the intensive care unit-a case series.","authors":"Tianqi Xu, Ming Tang, Meiqing Wu, Xiaoyan Xue","doi":"10.1186/s13256-025-05335-7","DOIUrl":"10.1186/s13256-025-05335-7","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis is a life-threatening hyperinflammatory syndrome resulting from uncontrolled activation of T cells and macrophages, frequently leading to multiorgan failure. Severe lactic acidosis (lactate ≥ 10 mmol/L), a rare yet critical manifestation, poses unique diagnostic and therapeutic challenges in the intensive care unit. Here, we report two cases of Chinese men with hemophagocytic lymphohistiocytosis presenting with extreme lactic acidosis, highlighting the necessity of early hemophagocytic lymphohistiocytosis screening in intensive care unit patients with unexplained hyperlactatemia.</p><p><strong>Case presentation: </strong>Case 1: A 43-year-old Chinese male with diffuse large B cell lymphoma developed hemophagocytic lymphohistiocytosis, presenting with lactate 14.2 mmol/L, cytopenia, and hyperferritinemia. Etoposide therapy rapidly normalized lactate levels (within 24 hours) and led to complete recovery after autologous stem cell transplantation. Case 2: A 60-year-old Chinese male with chronic gout and soft tissue infection developed septic shock and reactive hemophagocytic lymphohistiocytosis (lactate 14.3 mmol/L). Despite initial response to etoposide, he succumbed to invasive aspergillosis due to treatment-related immunosuppression.</p><p><strong>Conclusion: </strong>Extreme lactic acidosis in intensive care unit patients should prompt urgent hemophagocytic lymphohistiocytosis evaluation, particularly in Chinese populations. Etoposide is effective for malignancy-associated hemophagocytic lymphohistiocytosis, while reactive hemophagocytic lymphohistiocytosis may require tailored immunosuppression with strict infection prophylaxis. Routine reporting of patient ethnicity aids epidemiological understanding of rare diseases such as hemophagocytic lymphohistiocytosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"417"},"PeriodicalIF":0.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882981","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}

{"title":"Postpartum colonic squamous cell carcinoma with a BRAF^V600E mutation: a case report.","authors":"Qin Wang, Huai-Gen Zhang, Wei-Rong Yao, Xi-Quan Zhang, Hua-Zhang Tong, Li Liu","doi":"10.1186/s13256-025-05491-w","DOIUrl":"10.1186/s13256-025-05491-w","url":null,"abstract":"<p><strong>Introduction: </strong>Primary squamous cell carcinoma of the colon is a rare malignancy, especially in the postpartum period. Currently, there are no recommended guidelines for this disease. BRAF^V600E-mutated metastatic colorectal cancer occurs in approximately 8-12% of patients with colorectal cancer.</p><p><strong>Case presentation: </strong>Herein, we report a case of a 37-year-old Chinese woman diagnosed with postpartum descending colon squamous cell carcinoma harboring the BRAF^V600E mutation, which was treated with radical resection and adjuvant chemotherapy combined with targeted therapy. Eight months later, a new lesion was detected in the colon 40 cm away from the first mass. The patient was enrolled in a clinical trial but withdrew following two treatment cycles because of rapid disease progression. Subsequently, the patient died approximately 6 months after enrolling in the trial.</p><p><strong>Conclusion: </strong>Squamous cell carcinoma of the colon, particularly in postpartum women, is uncommon and often associated with an advanced stage and poor prognosis. Presently, patients with colorectal cancer carrying the BRAF^V600E mutation typically exhibit a low ratio, an advanced stage, and limited response to existing treatment approaches, resulting in a poor prognosis. Considerable emphasis and effort must be devoted to colonic squamous cell carcinoma, specifically cases harboring the BRAF^V600E mutation.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"410"},"PeriodicalIF":0.8,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12362865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873601","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}