SAGE Open Medical Case Reports最新文献

{"title":"Zanubrutinib for high-risk Waldenström macroglobulinemia with complex karyotype and hyperleukocytosis: A case report and literature review.","authors":"Jiale Chen, Jieyi Zhou, Chengyang Xu, Bo Zheng, Jie He, Rong Li","doi":"10.1177/2050313X251381565","DOIUrl":"10.1177/2050313X251381565","url":null,"abstract":"<p><p>To report the management and outcome of an elderly, high-risk lymphoplasmacytic lymphoma/Waldenström macroglobulinemia patient presenting with severe symptomatic anemia, marked hyperleukocytosis, a complex karyotype, dual <i>MYD88/CXCR4</i> mutations, and significant comorbidities, highlighting the therapeutic challenges and the efficacy of targeted therapy after chemoimmunotherapy intolerance. This case report details a 78-year-old male diagnosed with high-risk lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (<i>MYD88</i> L265P⁺, pathogenic <i>CXCR4</i> ⁺, complex karyotype: 46,X,-Y,add(6)(q224),+18/47,XY,+18/47,X,Y,+4,+18/48,XY,+4,+18/48,XY,+3,+18/46,XY) and significant comorbidities including hypertension and suspected cardiac amyloidosis. Initial treatment with bendamustine-rituximab was administered but led to significant toxicity. Subsequently, therapy was switched to the second-generation Bruton's tyrosine kinase inhibitor, zanubrutinib. Clinical progress, hematologic response, and adverse events were monitored. Initial treatment with bendamustine-rituximab was discontinued due to severe toxicity, including a grade 3 infusion reaction and subsequent neutropenic fever. Following the switch to zanubrutinib, he achieved a sustained partial hematologic response and clinical improvement. Disease-related complications (hyperviscosity retinopathy) and treatment-related adverse events (neutropenia) occurred but were managed appropriately while continuing zanubrutinib. Zanubrutinib demonstrated efficacy and manageable toxicity in an elderly, high-risk lymphoplasmacytic lymphoma/Waldenström macroglobulinemia patient with a complex karyotype, dual <i>MYD88/CXCR4</i> mutations, hyperleukocytosis, and significant comorbidities, following intolerance to standard chemoimmunotherapy. This case supports the use of targeted Bruton's tyrosine kinase inhibition in achieving favorable outcomes in complex lymphoplasmacytic lymphoma/Waldenström macroglobulinemia presentations and contributes to understanding the significance of complex karyotypes in the era of novel therapies.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251381565"},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12489237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233504","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":"Transradial angioplasty and stent placement for total occlusion of aberrant right subclavian artery: A case report.","authors":"Jiayin Zhang, Zhe Wang, Long Yan","doi":"10.1177/2050313X251381645","DOIUrl":"10.1177/2050313X251381645","url":null,"abstract":"<p><p>Aberrant right subclavian artery is one of the most common congenital anatomical variations of the aortic arch, but its occlusion is extremely rare. Although femoral artery access for endovascular treatment has become the mainstream approach for subclavian artery stenosis or occlusion, when the femoral artery approach fails to identify the arterial stump, the radial artery approach becomes an alternative. This report presents a case in which, after failure to treat via the femoral artery, a self-expanding stent was successfully deployed through the radial artery approach to treat a long segment occlusion of the aberrant right subclavian artery. The case involved a 71-year-old female patient who presented with a 3-month history of recurrent dizziness, right upper limb weakness, and episodic coldness in the right hand. Clinical and Duplex ultrasound findings confirmed subclavian steal syndrome secondary to aberrant right subclavian artery occlusion. The patient underwent successful stent implantation via the radial artery approach, and postoperatively, the symptoms resolved, and antegrade flow in the vertebral artery was restored. This case highlights the rare long-segment occlusion of the aberrant right subclavian artery and suggests that the radial artery approach may serve as a potential method for occlusion recanalization.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251381645"},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200583","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":"Ethical challenges in treating family members: A case study on confidentiality and clinical decision-making in the Indian context.","authors":"Mohamed Ali Kalathingal, Nazia Edathola Kottasseri, Jasim Uluvan, Shajitha Thekke Veettil","doi":"10.1177/2050313X251380521","DOIUrl":"10.1177/2050313X251380521","url":null,"abstract":"<p><p>This case report explores the ethical complexities faced by physicians when providing medical advice and care to close family members. It focuses on a 29-year-old Indian woman residing in Western Europe who, while visiting family in Kerala, India, was diagnosed with IgA nephropathy during a routine health check. Several family members involved in her care are also practicing physicians, raising significant ethical questions about confidentiality, professional objectivity, and the boundaries of familial care. The case highlights the tension between patient autonomy and informal medical involvement by relatives, especially in a country such as India, where cultural expectations encourage familial responsibility. Although clinical care was efficiently delivered, the situation raised concerns about the formal decision-making process, the lack of clinical documentation, and the absence of established ethical frameworks within the Indian healthcare context. This report emphasizes the need for clearer guidelines and practical tools to help physicians navigate dual-role relationships while upholding confidentiality and clinical integrity. The patient's perspective and the follow-up are discussed, with implications for both policy and practice.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251380521"},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200643","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":"Iptacopan treatment for recurrent dense deposit disease after kidney transplant: A case report.","authors":"Lean AlKhatib, Rahaf Omaish, Neriman Gokden, Sushma Bhusal","doi":"10.1177/2050313X251380533","DOIUrl":"10.1177/2050313X251380533","url":null,"abstract":"<p><p>C3 glomerulopathies, including dense deposit disease, are rare kidney disorders caused by dysregulation of the alternative complement pathway. Recurrence after kidney transplantation is common and can threaten graft survival. Iptacopan, an oral factor B inhibitor, was recently Food and Drug Administration-approved as the first targeted therapy for C3 glomerulopathies. We describe a 19-year-old woman with childhood-onset dense deposit disease who progressed to kidney failure and underwent deceased donor transplantation. Post-transplant, she experienced delayed graft function and persistently low serum C3. A biopsy on day 7 revealed C3-only deposits, indicating early recurrent disease. Iptacopan was initiated at 200 mg twice daily. Her serum C3 normalized within 1 week and remained stable over 6 months. Proteinuria decreased significantly, and renal function improved and stabilized. This case highlights the potential of iptacopan as a disease-specific therapy for post-transplant C3 glomerulopathies recurrence, reinforcing its clinical utility and mirroring outcomes from the APPEAR-C3G trial.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251380533"},"PeriodicalIF":0.6,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192633","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":"Pseudothrombotic microangiopathy resulting from severe vitamin B12 deficiency in a pediatric patient with autism: A case report.","authors":"Ilana Walters, Caroline Malcolmson, Renee Potashner, Cassandra Nelson, Romy Cho","doi":"10.1177/2050313X251377265","DOIUrl":"10.1177/2050313X251377265","url":null,"abstract":"<p><p>Vitamin B12 deficiency is typically characterized by megaloblastic anemia, but can also rarely present with pseudomicroangiopathic hemolytic anemia or multilineage cytopenias secondary to dyserythropoiesis and apoptotic cell death. We describe a 12-year-old male with autism spectrum disorder who presented with fever, night sweats, and weight loss. Laboratory testing identified severe neutropenia and hemolytic anemia, and an undetectably low vitamin B12 level. Dietary history confirmed significant food restriction over the preceding 6 months. He received 1000 µg of intramuscular vitamin B12 daily for 7 days and subsequently transitioned to oral therapy. His hemoglobin, hemolytic markers, and neutrophil count normalized within 13 days of vitamin B12 initiation. Our report describes a rare and severe manifestation of vitamin B12 deficiency in a patient with autism spectrum disorder and emphasizes the importance of screening for micronutrient deficiencies among vulnerable pediatric populations to avoid unnecessary and invasive testing.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251377265"},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12464435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186640","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":"Purtscher-like retinopathy following mechanical thrombectomy: A case report.","authors":"Shuangyun Lv, Ronghui Liu, Jiapeng Sun, Hongmei Liu, Kun Li, Chong Li, Jinhui Bian, Changxia Ding, Xin Guo","doi":"10.1177/2050313X251381564","DOIUrl":"10.1177/2050313X251381564","url":null,"abstract":"<p><p>Stroke is the leading cause of death among Chinese residents, a common form of which is acute large-vessel occlusion ischemic stroke, characterized by high incidence, disability, and mortality rates. To improve stroke prognosis, mechanical thrombectomy has been promoted as an effective treatment, but it involves risks of such complications as hemorrhagic transformation (symptomatic or asymptomatic bleeding), new distal embolism, reocclusion, restenosis, intraoperative vascular dissection, perforation, spasm, and hyperperfusion syndrome. As a case study, this article reports a 66-year-old male patient who suddenly developed acute cerebral infarction with acute occlusion of the left middle cerebral artery M1 segment. After mechanical thrombectomy, the patient experienced a rare complication of Purtscher-like retinopathy, causing significant vision loss in the left eye. Fundus fluorescein angiography indicated occlusion of the branch retinal artery, considered to be caused by microemboli fragmentation, escape, and blockage of the branch retinal artery during mechanical thrombectomy. Follow-up at 1, 6 months, and 1 year after discharge showed no significant improvement in the patient's vision. An in-depth analysis of its mechanism and imaging features suggests that optimization of mechanical thrombectomy devices can significantly improve procedural outcomes. For instance, the use of intermediate catheters-such as the Penumbra ACE series or Navien catheters-in combination with stent retrievers can enhance thrombus engagement and retrieval efficiency, thereby reducing the risk of distal embolization and lowering the incidence of procedure-related complications.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251381564"},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12464436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186657","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 case of neonatal essential tongue tremor diagnosed due to poor feeding.","authors":"Mirei Sasai, Sakina Kuge, Kana Ogino, Yuhei Konishi, Shin Nabatame, Norihisa Wada, Keisuke Sugimoto","doi":"10.1177/2050313X251380136","DOIUrl":"10.1177/2050313X251380136","url":null,"abstract":"<p><p>We encountered a case of a neonate diagnosed with essential tongue tremor due to involuntary movements of the tongue and poor oral feeding immediately after birth. Reports of pediatric-onset essential tongue tremor, particularly neonatal-onset, are extremely rare. Neonatal-onset essential tongue tremor can result in feeding difficulties and poor weight gain, potentially affecting subsequent growth and development. Given the importance of early diagnosis and medical intervention, we report our case. A boy born at 40 weeks and 5 days of gestation, weighing 3252 g, normal delivery with an Apgar Score of 8/9. He exhibited poor feeding and tongue tremor since birth. A thorough examination was performed to differentiate involuntary tongue movements. Videofluoroscopic examination of swallowing showed stagnation of contrast medium in the oral cavity, suggesting that it was due to poor tongue movement. Based on clinical findings and various exclusion diagnoses, a diagnosis of essential tongue tremor was made. Primidone, a barbiturate anticonvulsant drug, was started with a therapeutic diagnosis. Treatment resulted in marked improvement in feeding ability, and the primidone was tapered off and discontinued without any side effects after weaning was introduced. We plan to carefully follow up on growth and developmental assessment (especially language development) and continue to provide support to patients and their families.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251380136"},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12464427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186721","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":"Simultaneous repair of pectus excavatum with congenital heart surgery for a 72-year-old patient: Case report.","authors":"Naruhito Watanabe, Ashley Hapak, Teimour Nasirov","doi":"10.1177/2050313X251377213","DOIUrl":"10.1177/2050313X251377213","url":null,"abstract":"<p><p>Over the last decade, pectus excavatum deformities have been advocated for correction in cardiac surgery procedures due to their effectiveness and reliability. However, it is uncertain for adult congenital cardiac disease. This is the first article to describe a simultaneous repair for a 72-year-old female who had adult congenital heart disease and pectus excavatum. Preoperative cardiac catheterization found her systolic peak-to-peak gradient at the right ventricular outflow tract stenosis was 69 mmHg, caused by a severely hypertrophied muscle bundle in the right ventricle. She also had a severe pectus excavatum with a Haller Index of 5.09. We performed resection of hypertrophied right muscle bundle at the ostium infundibulum with patch augmentation of the right ventriculotomy and Nuss procedure with bilateral cryoablation. She achieved excellent outcomes in both cardiac repair and chest wall repair in the year after this simultaneous surgery.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251377213"},"PeriodicalIF":0.6,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12450259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126059","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":"Exercise-induced rhabdomyolysis with acute kidney injury resulting from strenuous activities among military trainees: A case report.","authors":"Jesse M Mnyune, Samira O Mgumia, Cesilia J Mosha","doi":"10.1177/2050313X251375523","DOIUrl":"10.1177/2050313X251375523","url":null,"abstract":"<p><p>Rhabdomyolysis is a syndrome marked by rapid skeletal muscle breakdown, leading to the release of intracellular components such as myoglobin and creatine kinase into the bloodstream, which may result in acute kidney injury. We report the case of a 31-year-old female army trainee with no prior medical history who developed generalized malaise, muscle pain, fever, and dark urine following intense physical exercise. Laboratory tests revealed elevated creatinine, urea, and liver enzymes, along with hematuria. The patient was treated successfully with intravenous fluids, resulting in clinical and biochemical improvement. Contributing factors included poor physical fitness, intense and prolonged exercise, dehydration, and a hot environment. As 10%-30% of such cases may lead to acute kidney injury, preventive strategies, such as proper hydration, gradual training, and warming-up, are essential. This case highlights the need for early recognition and timely fluid therapy to prevent severe complications, especially in low-resource settings that lack gold standard biomarkers, such as creatine kinase, and also high-risk groups such as military personnel and athletes.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251375523"},"PeriodicalIF":0.6,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12450272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126045","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":"Usage of cervical cerclage in pregnancy with Mullerian anomalies and cervical insufficiency: A case report.","authors":"Widya Maulida, Alfonsus Zeus Suryawan, Dani Setiawan, Andi Rinaldi, Tiffanie Almas Santoso","doi":"10.1177/2050313X251377288","DOIUrl":"10.1177/2050313X251377288","url":null,"abstract":"<p><p>Usage of cervical cerclage in Mullerian anomalies remains unclear due to the few studies and reports conducted on such cases. This case report wishes to highlight the usage of cervical cerclage in Mullerian abnormalities and repeated preterm labour. A 26-year-old G3P2A0 with 13 weeks of pregnancy came with a history of repeated preterm birth, which ended at 23-24 and 28-29 weeks consecutively. Ultrasound examination revealed that she had 14-15 weeks of pregnancy and cervical length 2.2 cm. The patient was diagnosed with cervical insufficiency, and cervical cerclage was performed. The patient then presented at 36th-37th weeks of pregnancy with labour pain and fetal distress, emergency cesarean section was performed. During the operation bicorporeal uterus was found. The fetus was delivered weighing 2.690 g with 1-min APGAR score of 7 and 5 min at 9. We performed ultrasonography and pelvic MRI 2 months after delivery, which identified a U3bC0V0 as in the European Society of Human Reproduction and Embryology classification and a bicornuate uterus (serosal indentation >1 cm) as in the 2021 American Society of Reproductive Medicine classification. Patient presented with two preterm births and fulfilled classic historic features of cervical insufficiency which history-indicated cerclage is mandatory. Uterine anomalies themselves increase the risk of recurrent pregnancy loss, preterm birth, and cervical insufficiency. Only half of a pregnancy with a bicorporeal uterus lasts till term, and half of it ends up as early preterm pregnancy loss. It is important to diagnose or exclude Mullerian abnormalities in cases of repeated preterm labour or second-trimester pregnancy loss. Usage of cerclage has been useful in some cases, including this case; further research should be conducted for stabilizing the guidelines of cerclage in pregnancy with Mullerian abnormalities.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251377288"},"PeriodicalIF":0.6,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12450273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126034","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}