Journal of medical cases最新文献

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Pregnancy After In Vitro Fertilization in Budd-Chiari Syndrome Secondary to Polycythemia Vera: Multidisciplinary Management and Perioperative Considerations. 真性红细胞增多症继发于Budd-Chiari综合征的体外受精后妊娠:多学科管理和围手术期考虑。
IF 0.5
Journal of medical cases Pub Date : 2026-05-25 eCollection Date: 2026-07-01 DOI: 10.14740/jmc5319
Nikolina Musulin, Sonja Krofak, Aleksandra Jokic, Ivana Petra Kolarek, Milan Pavlovic, Ivanka Bekavac Vlatkovic
{"title":"Pregnancy After <i>In Vitro</i> Fertilization in Budd-Chiari Syndrome Secondary to Polycythemia Vera: Multidisciplinary Management and Perioperative Considerations.","authors":"Nikolina Musulin, Sonja Krofak, Aleksandra Jokic, Ivana Petra Kolarek, Milan Pavlovic, Ivanka Bekavac Vlatkovic","doi":"10.14740/jmc5319","DOIUrl":"10.14740/jmc5319","url":null,"abstract":"<p><p>Budd-Chiari syndrome (BCS) is a rare hepatic vascular disorder frequently associated with prothrombotic conditions such as myeloproliferative neoplasms. Pregnancy and assisted reproductive technologies further increase thrombotic and portal-hypertensive risk. We report a successful <i>in vitro</i> fertilization-conceived pregnancy in a 35-year-old woman with chronic BCS secondary to JAK2-positive polycythemia vera. The pregnancy was complicated by ovarian hyperstimulation syndrome and severe intrahepatic cholestasis of pregnancy. Progressive portal hypertension with worsening esophageal varices prompted planned preterm delivery at 34 weeks' gestation. A multidisciplinary team performed cesarean delivery under epidural anesthesia with prophylactic perioperative terlipressin administration and thromboprophylaxis. Maternal and neonatal outcomes were favorable. With careful multidisciplinary management, pregnancy in women with stable BCS is feasible.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"340-343"},"PeriodicalIF":0.5,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298036","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
Vertebral Artery Dissection and Cerebellar Stroke in a Young Patient Following Neck Manipulation. 年轻患者颈部操作后的椎动脉夹层和小脑卒中。
IF 0.5
Journal of medical cases Pub Date : 2026-05-20 eCollection Date: 2026-07-01 DOI: 10.14740/jmc5304
Ella Lahart, Linda Akbarshahi, Jacob Tadros, Eric Evans
{"title":"Vertebral Artery Dissection and Cerebellar Stroke in a Young Patient Following Neck Manipulation.","authors":"Ella Lahart, Linda Akbarshahi, Jacob Tadros, Eric Evans","doi":"10.14740/jmc5304","DOIUrl":"10.14740/jmc5304","url":null,"abstract":"<p><p>Vertebral artery dissection (VAD) is an uncommon but critical cause of ischemic stroke in young adults. While some cases of VAD are associated with trauma, many occur spontaneously or without clearly identifiable precipitating events. This case report describes a 33-year-old male with a history of migraines and attention deficit hyperactivity disorder (ADHD) who presented with worsening left-side headache, neck pain, nausea, and left arm paresthesia. His initial presentation to urgent care resulted in conservative treatment without improvement. The patient later presented to the emergency department following persistent symptoms and a recent history of chiropractic visits, based solely on patient self-report. Computed tomography angiography (CTA) revealed vertebral artery aneurysm and pseudoaneurysm, magnetic resonance imaging (MRI) demonstrated an acute lacunar infarct in the left cerebellar hemisphere, and magnetic resonance angiography (MRA) confirmed bilateral VAD. Transesophageal echocardiography (TEE) later revealed a patent foramen ovale (PFO), though no immediate intervention was required. The patient was managed with dual antiplatelet therapy and supportive medications for migraine and vertigo. This case warrants reporting due to the patient's atypical age, absence of clear trauma, and the diagnostic delay caused by overlapping migraine symptoms. While a temporal association with recent neck manipulation was noted, causation cannot be established. Early recognition and appropriate imaging are essential to prevent disabling outcomes and guide proper management in at-risk populations.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"326-329"},"PeriodicalIF":0.5,"publicationDate":"2026-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298252","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
Prolonged Fever of Unknown Origin With Suspicion of Adult-Onset Still's Disease: A Diagnostic Challenge. 疑为成人发病斯蒂尔氏病的不明原因长时间发热:一个诊断挑战。
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5291
Janice Tong, Jerry Yue
{"title":"Prolonged Fever of Unknown Origin With Suspicion of Adult-Onset Still's Disease: A Diagnostic Challenge.","authors":"Janice Tong, Jerry Yue","doi":"10.14740/jmc5291","DOIUrl":"10.14740/jmc5291","url":null,"abstract":"<p><p>We report a 72-year-old patient with intermittent fever for 7 months, accompanied by leukocytosis, tachycardia, myalgias and arthralgias. Prior evaluations-including imaging, cultures, bone marrow biopsy, serologies, and autoimmune panels-were unrevealing. The patient's persistent fever was previously diagnosed as fever of unknown origin (FUO), which is defined by a core temperature exceeding 38.0 °C for more than 3 weeks with no defined causes during ≥ 3 inpatient days or ≥ 3 outpatient visits. The patient's fever initially improved with steroids. During the hospital course, empiric antibiotics were started and discontinued following negative blood cultures, and prednisone was reinitiated at discharge. There was high suspicion for atypical adult-onset Still's disease (AOSD), and the patient was treated in the outpatient setting with steroids and tocilizumab. This case highlights the importance of systematic evaluation, multidisciplinary collaboration, and careful selection of pharmacological therapy and invasive procedures in the workup of FUO, especially in an elderly patient. The case also illustrates the challenges in diagnosing AOSD due to the highly variable clinical presentation and low prevalence, and further outlines current treatment recommendations for AOSD, which include corticosteroid therapy in combination with an interleukin (IL)-6 inhibitor.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"251-257"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147965986","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 Effect of Laparoscopic Dermoid Cystectomy on Anti-Mullerian Hormone: A Case Series. 腹腔镜下皮样膀胱切除术对抗苗勒管激素的影响:一个病例系列。
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5276
Praneel Kumar, Harry Merkur, Peter Russell, Clare Wong
{"title":"The Effect of Laparoscopic Dermoid Cystectomy on Anti-Mullerian Hormone: A Case Series.","authors":"Praneel Kumar, Harry Merkur, Peter Russell, Clare Wong","doi":"10.14740/jmc5276","DOIUrl":"10.14740/jmc5276","url":null,"abstract":"<p><p>Laparoscopic cystectomy for benign ovarian pathologies overall has been shown to reduce anti-Mullerian hormone (AMH), an important biomarker of ovarian reserve and fertility; however, the effect of dermoid cystectomy on ovarian reserve remains unclear. We sought to measure the change in AMH from before and after planned laparoscopic dermoid cystectomy at our surgical center in a case series. Females of reproductive age between 18 and 40 years presenting with a pre-operative diagnosis of a unilateral dermoid cyst on pelvic ultrasound and an indication for laparoscopic cystectomy were recruited. AMH levels were measured pre-operatively and repeated post-operatively between 6 and 8 weeks and the histology was checked to confirm a dermoid cyst. The laparoscopic surgery was undertaken using a standard technique at our center by senior gynecologists. A non-parametric Wilcoxon signed-rank test was performed to assess the difference between paired serum AMH samples. Of the seven females with dermoid cyst on final histopathology, there was no statistically significant difference observed between the pre-operative and post-operative AMH levels (W-value 13, P-value not less than 0.05). Our case series did not show any difference between pre-operative and post-operative AMH results following laparoscopic dermoid cystectomy and more data are required on the impact on ovarian reserve from future studies.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"239-243"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147966297","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
Trans-Endometrial Cesarean Myomectomy for a Large Anterior Lower-Segment Intramural Fibroid Preventing Hysterotomy Closure. 经子宫内膜剖宫产子宫肌瘤切除术预防子宫切开术。
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5308
Monchai Suntipap, Potsanop Kassayanan, Kasidis Nontaprom
{"title":"Trans-Endometrial Cesarean Myomectomy for a Large Anterior Lower-Segment Intramural Fibroid Preventing Hysterotomy Closure.","authors":"Monchai Suntipap, Potsanop Kassayanan, Kasidis Nontaprom","doi":"10.14740/jmc5308","DOIUrl":"10.14740/jmc5308","url":null,"abstract":"<p><p>Cesarean myomectomy has traditionally been avoided because of hemorrhage risk, but removal at cesarean delivery (CD) may be required when a fibroid distorts the lower uterine segment or prevents secure hysterotomy closure. A 35-year-old primigravida with fetal growth restriction at 38 + 2 weeks' gestation had a large anterior intramural fibroid in the lower uterine segment. Intraoperatively, the fibroid caused distortion and traction along the hysterotomy line, and prevented approximation of the myometrial edges, precluding secure closure without excision. A trans-endometrial myomectomy was performed. The lesion was enucleated using combined blunt and sharp dissection, and the myoma bed was repaired with targeted hemostatic suturing. Hemostasis was supported with continuous intravenous oxytocin infusion, followed by multilayer uterine closure. Estimated blood loss was 1,300 mL and one unit of packed red blood cells was transfused. Histopathology confirmed leiomyoma. At 6 weeks postpartum, the patient reported no secondary postpartum hemorrhage, fever, or pelvic pain, and transvaginal ultrasonography was normal. This case highlights that a trans-endometrial approach can be considered in selected situations, particularly when a large lower-segment intramural fibroid prevents secure uterine closure during CD.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"275-279"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147966414","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
Tardive Oropharyngeal Dyskinesia Associated With Antipsychotic Use in the Management of Behavioral and Psychological Symptoms of Dementia. 迟发性口咽运动障碍与抗精神病药在痴呆行为和心理症状管理中的作用
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5277
Zahira Zohari, Nurulakmal Obet, Nurul Huda Mohd Zambri, Reena Nadarajah, Dato' Tunku Muzafar Shah Tunku Jaafar
{"title":"Tardive Oropharyngeal Dyskinesia Associated With Antipsychotic Use in the Management of Behavioral and Psychological Symptoms of Dementia.","authors":"Zahira Zohari, Nurulakmal Obet, Nurul Huda Mohd Zambri, Reena Nadarajah, Dato' Tunku Muzafar Shah Tunku Jaafar","doi":"10.14740/jmc5277","DOIUrl":"10.14740/jmc5277","url":null,"abstract":"<p><p>Behavioral and psychological symptoms of dementia (BPSD) are prevalent in up to 90% of people with dementia. Management of BPSD often includes non-pharmacological approaches, supplemented by psychotropic medications when necessary. However, these medications can lead to adverse reactions, including extrapyramidal symptoms (EPS). This report describes the case of an older adult presenting with BPSD secondary to vascular dementia. The management of the BPSD included various psychotropic and antipsychotic medications, which led to the development of orofacial dyskinesias. The development and recurrence of tardive dyskinesia in this patient were explored, considering the delayed effects of typical antipsychotics, the potentiating effects of atypical antipsychotics, and interactions with selective serotonin uptake inhibitors and acetylcholinesterase inhibitors. The case highlights the complexities of managing BPSD in dementia and the risk of EPS. It emphasizes the importance of early recognition and the value of teleconsultation for close monitoring and medication review, thereby improving patient well-being and treatment adherence. An evidence-informed approach, combined with regular medication review and early identification of adverse effects, is essential to optimize therapeutic outcomes and mitigate long-term morbidity associated with the pharmacological management of BPSD.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"244-250"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147966260","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
Relapsed Immune Thrombocytopenic Purpura Following COVID-19 Vaccination in a Patient With Autoimmune Cytopenias. 自身免疫性血小板减少患者在COVID-19疫苗接种后复发的免疫性血小板减少性紫癜
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5305
Ella Lahart, Linda Akbarshahi, Mariya Barbarovich, Eric Evans
{"title":"Relapsed Immune Thrombocytopenic Purpura Following COVID-19 Vaccination in a Patient With Autoimmune Cytopenias.","authors":"Ella Lahart, Linda Akbarshahi, Mariya Barbarovich, Eric Evans","doi":"10.14740/jmc5305","DOIUrl":"10.14740/jmc5305","url":null,"abstract":"<p><p>Immune thrombocytopenic purpura (ITP) is a rare autoimmune condition characterized by isolated thrombocytopenia in the absence of an identifiable secondary cause. While most cases respond to first-line therapy, relapsed or refractory forms, particularly in patients with coexisting autoimmune disorders, pose significant diagnostic and treatment challenges. Recent reports have identified rare instances of autoimmune cytopenias following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccination, raising concern for potential immune reactivation in predisposed individuals with prior immune dysregulation. We present the case of a 68-year-old male with a history of ITP and autoimmune hemolytic anemia who developed a severe relapse of thrombocytopenia, epistaxis, and suspected gastrointestinal hemorrhage shortly after coronavirus disease 2019 (COVID-19) vaccination. Despite initial treatment with corticosteroids, intravenous immunoglobulin, and platelet transfusions, the patient experienced a second relapse requiring escalation of care with additional immunosuppressive therapy and close hematologic follow-up. Ultimately, his condition improved with a multimodal approach and coordinated outpatient management. This case is clinically significant due to its temporal association with COVID-19 vaccination and the relapsing nature of ITP in the setting of systemic autoimmunity. It underscores the importance of early recognition, timely intervention, and vigilant monitoring in preventing life-threatening complications. The report adds to a growing body of literature highlighting the need for individualized care strategies and post-vaccine surveillance in patients at heightened risk of autoimmune reactivation.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"280-284"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147966325","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
Bivalirudin for Recurrent Pediatric Venous Thromboembolism: A Case Report of Heparin Resistance and Thrombectomy. 比伐鲁定治疗复发性儿童静脉血栓栓塞:肝素抵抗和血栓切除术1例报告。
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5306
Sarah Shelley, Leslie Matthews Richards
{"title":"Bivalirudin for Recurrent Pediatric Venous Thromboembolism: A Case Report of Heparin Resistance and Thrombectomy.","authors":"Sarah Shelley, Leslie Matthews Richards","doi":"10.14740/jmc5306","DOIUrl":"10.14740/jmc5306","url":null,"abstract":"<p><p>Venous thromboembolism (VTE) is rare in pediatric patients, and spontaneous thrombosis in otherwise healthy children presents unique diagnostic and therapeutic challenges. We describe a 15-year-old male who presented with abrupt right leg pain and swelling. Imaging revealed extensive deep venous thrombosis (DVT) involving the right iliac, femoral, and popliteal systems, along with bilateral pulmonary emboli (PEs). He was started on an unfractionated heparin (UFH) infusion but therapeutic anticoagulation was never achieved despite escalating doses, consistent with heparin resistance. During hospitalization, the patient developed worsening clot burden and limb swelling. His hospital course was complicated by worsening clot burden requiring two mechanical thrombectomies. Given failure of UFH, anticoagulation was transitioned to bivalirudin, which stabilized his clinical course and improved perfusion and clot burden on follow-up imaging. He was discharged on enoxaparin, though repeat evaluation at 3 months showed recurrent thrombosis and persistent pulmonary emboli. He was subsequently transitioned to oral dabigatran, after which follow-up ultrasound demonstrated improvement. This case highlights the importance of recognizing heparin resistance in pediatric patients with persistently subtherapeutic anticoagulation, considering mechanical thrombectomy for extensive or limb-threatening thrombosis, and using direct thrombin inhibitors such as bivalirudin when UFH fails. Although experience outside extracorporeal support is limited, bivalirudin may be a safe and effective alternative for pediatric VTE management. This case demonstrates successful use of bivalirudin after heparin resistance and thrombectomy in a pediatric patient without cardiac disease or extracorporeal support, highlighting a novel application of direct thrombin inhibition and the need for further studies to define standardized pediatric dosing, monitoring, and safety outcomes.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"285-291"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944478","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
A Case Series of Late Myocardial Infarction Following Self-Expanding Transcatheter Aortic Valve Replacement. 自扩张经导管主动脉瓣置换术后晚期心肌梗死一例。
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5303
Muhammad Saad, Mohammad Hashim Jilani, Mohsin Munawar, Cristiano Spadaccio, Rishi Sukhija, Arif Imran
{"title":"A Case Series of Late Myocardial Infarction Following Self-Expanding Transcatheter Aortic Valve Replacement.","authors":"Muhammad Saad, Mohammad Hashim Jilani, Mohsin Munawar, Cristiano Spadaccio, Rishi Sukhija, Arif Imran","doi":"10.14740/jmc5303","DOIUrl":"10.14740/jmc5303","url":null,"abstract":"<p><p>Embolic stroke is a recognized complication of transcatheter aortic valve replacement (TAVR); however, coronary embolism is rarely reported, particularly when occurring late after valve implantation. We described three patients presenting with ST-segment elevation myocardial infarction (STEMI) between 10 and 50 months after self-expanding TAVR. All patients had angiographically normal coronary arteries prior to TAVR, severe native aortic valve calcification, and well-controlled cardiovascular risk factors, and were maintained on guideline-directed single antiplatelet therapy. At presentation, coronary angiography demonstrated abrupt 100% coronary occlusion without angiographic evidence of underlying atherosclerotic disease. Aspiration thrombectomy was required in all three cases. These cases illustrate a rare presentation of late myocardial infarction following self-expanding TAVR with angiographic features possibly suggestive of a non-atherosclerotic mechanism. Although a definitive embolic source cannot be established, delayed embolization of calcific or thrombotic material may represent a plausible explanation. These observations are hypothesis-generating and underscore the need for clinical vigilance and further mechanistic and imaging-based studies to better characterize potential late thromboembolic pathways after TAVR.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"271-274"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147965911","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
Isolated Neutropenia as a Sentinel of High-Risk Clonal Evolution: Acute Myeloid Leukemia With Myelodysplasia-Related Changes Harboring TP53 Deletion via Isochromosome 17q and Deletion 20q Mimicking a Myeloproliferative Neoplasm. 分离中性粒细胞减少作为高风险克隆进化的前哨:急性髓系白血病伴骨髓增生异常相关改变,通过同染色体17q和缺失20q模拟骨髓增殖性肿瘤。
IF 0.5
Journal of medical cases Pub Date : 2026-04-29 eCollection Date: 2026-06-01 DOI: 10.14740/jmc5297
Caryn Louise D Gutierrez, Anne Kristine H Quero-Taggaoa
{"title":"Isolated Neutropenia as a Sentinel of High-Risk Clonal Evolution: Acute Myeloid Leukemia With Myelodysplasia-Related Changes Harboring <i>TP53</i> Deletion via Isochromosome 17q and Deletion 20q Mimicking a Myeloproliferative Neoplasm.","authors":"Caryn Louise D Gutierrez, Anne Kristine H Quero-Taggaoa","doi":"10.14740/jmc5297","DOIUrl":"10.14740/jmc5297","url":null,"abstract":"<p><p>Isolated neutropenia is often deemed benign in elderly patients, frequently attributed to age-related marrow changes, medications, or nutritional deficiencies. However, persistent and unexplained neutropenia may signal early clonal hematopoiesis or evolving myeloid malignancy. While acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) usually arises from multilineage cytopenia, presentation with isolated neutropenia and myeloproliferative neoplasia (MPN)-like features is exceedingly rare. This case underscores the importance of early, risk-adapted assessment in such scenarios. A 69-year-old woman presented with isolated mild neutropenia (absolute neutrophil count (ANC) 1,188/µL) and easy bruising. With no other cytopenias or symptoms, bone marrow biopsy was deferred. Six months later, she developed abdominal discomfort, anorexia, and massive splenomegaly. Laboratory tests revealed leukocytosis with left shift, anemia, thrombocytopenia, and nucleated red cells. Bone marrow biopsy showed > 40% myeloblasts, trilineage dysplasia, and mild fibrosis. <i>JAK2</i> mutation and <i>BCR-ABL</i> were negative. Cytogenetics demonstrated i(17q) and del(20q); Fluorescence <i>in situ</i> hybridization (FISH) showed <i>TP53</i> deletion in 81.91% of nuclei, establishing AML-MRC with high-risk features. She was started on azacitidine and venetoclax. Day 28 marrow showed minimal residual disease (blast 8%) but no metaphase growth prompting treatment continuation. She is currently on her fourth cycle with treatment-related transfusion-dependent cytopenias, prompting dose reduction. This case challenges the prevailing \"watch-and-wait\" paradigm in the evaluation of isolated neutropenia, particularly in older adults. It exposes the hidden risk of clinical inertia, where the absence of other overt cytopenias or symptoms may lead to missed opportunities for early diagnosis of high-risk clonal evolution. In resource-limited setting, this case underscores urgent need for heightened clinical vigilance. Likewise, it highlights the urgent need for a more risk-adapted approach to persistent isolated neutropenia and compels us to confront a critical question: how many patients are we failing to diagnose in time, and how many windows for potentially life-altering intervention are we silently allowing to close?</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 6","pages":"263-270"},"PeriodicalIF":0.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13171273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147965853","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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