Journal of medical cases最新文献

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Chronic Disseminated Intravascular Coagulation in Patient With Metastatic Gastrointestinal Stromal Tumor: Treating Bleeding With Anticoagulation. 转移性胃肠道间质瘤患者的慢性弥散性血管内凝血:抗凝治疗出血。
IF 0.9
Journal of medical cases Pub Date : 2025-11-28 eCollection Date: 2025-12-01 DOI: 10.14740/jmc5164
Emily Bopp, Zhu Cui, Jacob Elkon
{"title":"Chronic Disseminated Intravascular Coagulation in Patient With Metastatic Gastrointestinal Stromal Tumor: Treating Bleeding With Anticoagulation.","authors":"Emily Bopp, Zhu Cui, Jacob Elkon","doi":"10.14740/jmc5164","DOIUrl":"10.14740/jmc5164","url":null,"abstract":"<p><p>Disseminated intravascular coagulation (DIC) is an uncontrolled activation of the coagulation cascade which is often a complication observed in patients with malignancies. DIC can occur in both hematologic and solid malignancies. Management of DIC is often focused on treating the underlying cause and supportive care, which varies based on thrombotic versus bleeding-predominant phenotypes. We report a case of a 69-year-old man with metastatic malignant gastrointestinal stromal tumor (GIST) diagnosed 9 years prior and actively on imatinib, who presented to the emergency department (ED) with gingival bleeding. On presentation, he was hypertensive with active gingival bleeding and was found to have anemia, thrombocytopenia, and mildly elevated coagulation parameters. His initial bleeding was thought to be due to poor dental hygiene and thrombocytopenia, which may be a side effect of imatinib. His imatinib was discontinued, yet he returned to the ED within 2 days with hematuria and melanic stools. He developed multiple sources of bleeding with worsening bicytopenia, progressive coagulopathy, and high levels of fibrin degradation products. He was diagnosed with DIC. He went on to have four additional hospitalizations for bleeding from various sites and abdominal pain. His DIC was attributed to malignancy with findings of disease progression, tumor thrombi, pulmonary embolism, and intracranial hemorrhage through his course. This case represents a rare occurrence of chronic DIC in metastatic GIST and is only the second known report of chronic DIC in a patient with GIST. Despite adjustments to his cancer therapies and anticoagulation, he continued to have episodes of DIC with frequent hospitalizations and ultimately death. Further research is warranted on the selection of and potential variability in bleeding risks of different anticoagulants in DIC. The complexity of tumor-induced coagulopathy and impact of cancer therapies on coagulation highlights the need for additional research into tailored management to improve outcomes in similar cases.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"510-516"},"PeriodicalIF":0.9,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717177","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
Atypical Presentation of Gangrenous Cholecystitis in a Patient With Diabetes Mellitus. 糖尿病患者坏疽性胆囊炎的不典型表现。
IF 0.9
Journal of medical cases Pub Date : 2025-11-28 eCollection Date: 2025-12-01 DOI: 10.14740/jmc4291
Maryam Ahmad, Alexandra Nguyen, Aldin Malkoc, Amanda Daoud, Amira Barmanwalla, Brandon Woodward
{"title":"Atypical Presentation of Gangrenous Cholecystitis in a Patient With Diabetes Mellitus.","authors":"Maryam Ahmad, Alexandra Nguyen, Aldin Malkoc, Amanda Daoud, Amira Barmanwalla, Brandon Woodward","doi":"10.14740/jmc4291","DOIUrl":"10.14740/jmc4291","url":null,"abstract":"<p><p>Gangrenous cholecystitis (GC) represents a severe complication of acute cholecystitis, characterized by full-thickness necrosis of the gallbladder wall. This condition arises from persistent cystic duct obstruction, causing local ischemia and inflammation. Its incidence ranges from 2% to 29.6% of acute cholecystitis cases and is associated with risk factors including male gender, age over 50, history of cardiovascular disease, diabetes mellitus (DM), and leukocytosis greater than 17,000 white blood cells/mL. GC carries significant morbidity and mortality, with increased operative complications compared to non-gangrenous acute cholecystitis. Early diagnosis and intervention are crucial to the prevention of disease progression and complications. Diagnosing GC preoperatively is challenging, particularly in diabetic patients who may lack typical symptoms such as right upper quadrant pain due to diabetic autonomic neuropathy. These patients often present with non-specific findings, increasing the difficulty of early diagnosis. This report presents a 56-year-old man with uncontrolled DM initially diagnosed with diabetic ketoacidosis (DKA), later found to have GC despite non-elevated liver function tests, absence of leukocytosis, and no reported history of postprandial or right upper quadrant pain. Despite imaging findings suggestive of acute cholecystitis, the absence of right upper quadrant pain and leukocytosis lowered clinical suspicion, leading to delayed diagnosis and intervention. Ultimately, intraoperative findings confirmed GC, and the patient underwent a successful laparoscopic cholecystectomy. This case highlights the complexities of diagnosing GC in diabetic patients and suggests that underlying microvascular disease and autonomic neuropathy contribute to atypical presentations. Clinicians should consider GC in diabetic patients with non-specific abdominal symptoms and maintain a low threshold for surgical intervention. Further studies are needed to elucidate the pathophysiology and clinical presentation of GC in diabetic patients and to optimize diagnostic and management strategies.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"504-509"},"PeriodicalIF":0.9,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717150","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
Cecal Involvement of Diffuse Large B-Cell Lymphoma: A Rare Extra-Nodal Presentation. 弥漫性大b细胞淋巴瘤累及盲肠:一种罕见的结外表现。
IF 0.9
Journal of medical cases Pub Date : 2025-11-22 eCollection Date: 2025-12-01 DOI: 10.14740/jmc5192
Usama Sakhawat, Ahmed Shehadah, Usman Mazhar, Miranda Gonzalez, Fahad Malik, James Van Gurp, Leslie Bank
{"title":"Cecal Involvement of Diffuse Large B-Cell Lymphoma: A Rare Extra-Nodal Presentation.","authors":"Usama Sakhawat, Ahmed Shehadah, Usman Mazhar, Miranda Gonzalez, Fahad Malik, James Van Gurp, Leslie Bank","doi":"10.14740/jmc5192","DOIUrl":"10.14740/jmc5192","url":null,"abstract":"<p><p>We present the case of a 56-year-old male with cecal involvement of non-Hodgkin's lymphoma (NHL), whose tumor was refractory to multiple chemotherapy regimens and ultimately resulted in significant local complications due to tumor erosion, leading to considerable morbidity. NHL is the most common hematologic cancer with many subtypes of disease, with diffuse large B-cell lymphoma (DLBCL) being the most common. Extra-nodular presentation in the gastrointestinal tract is typical in many cases; however, the involvement of the colon is rare. This case details a patient with extra-nodal involvement of the cecum. The patient initially presented with an enlarging neck mass. This report highlights the importance of evaluating extra-nodular disease.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"475-486"},"PeriodicalIF":0.9,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717159","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
Aortic Dissection During Diagnostic Coronary Angiography in a Patient With Acute Coronary Syndrome: The Role of Off-Pump Coronary Artery Bypass Grafting. 急性冠状动脉综合征患者诊断性冠状动脉造影期间主动脉夹层:非体外循环冠状动脉搭桥术的作用。
IF 0.9
Journal of medical cases Pub Date : 2025-11-22 eCollection Date: 2025-12-01 DOI: 10.14740/jmc5214
Carlos A Roldan, Shazib Sagheer, Kathleen Allen, Lori Serkland, Breandan Kelly, Said Yassin
{"title":"Aortic Dissection During Diagnostic Coronary Angiography in a Patient With Acute Coronary Syndrome: The Role of Off-Pump Coronary Artery Bypass Grafting.","authors":"Carlos A Roldan, Shazib Sagheer, Kathleen Allen, Lori Serkland, Breandan Kelly, Said Yassin","doi":"10.14740/jmc5214","DOIUrl":"10.14740/jmc5214","url":null,"abstract":"<p><p>Iatrogenic aortic dissection (IAD) is an extremely rare complication of coronary angiography, most often occurring during percutaneous coronary intervention (PCI) and typically resulting from retrograde extension of a coronary artery dissection. The coexistence of IAD with acute coronary syndrome (ACS) presents significant management challenges, with no established guidelines to guide therapy. Management decisions are influenced by several factors, including whether angiography is performed in the setting of stable angina versus ACS, the extent of ischemic myocardium at risk, the patient's hemodynamic stability, and the extent of aortic involvement - particularly whether the dissection is confined to the aortic root or extends into the ascending aorta by less than or greater than 4 cm. Treatment strategies may include PCI alone for the coronary dissection or urgent surgical repair of the aorta with coronary artery bypass grafting (CABG). The role of off-pump CABG in this context remains poorly defined. We describe a unique case of a patient with severe mid-left anterior descending (LAD) artery disease presenting with a non-ST elevation myocardial infarction (NSTEMI), who developed a type II IAD during diagnostic coronary angiography without associated coronary artery dissection. Prompt recognition, careful imaging with transesophageal echocardiography (TEE) and computed tomography angiography (CTA), and immediate medical stabilization prevented progression of the dissection. This allowed for a successful and uncomplicated off-pump left internal mammary artery (LIMA) CABG to the LAD, resulting in excellent short- and long-term clinical outcomes.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"499-503"},"PeriodicalIF":0.9,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717163","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
Radial Extracorporeal Shockwave Therapy for the Treatment of Chronic Refractory Coccygodynia. 放射状体外冲击波治疗慢性难治性尾骨痛。
IF 0.9
Journal of medical cases Pub Date : 2025-11-22 eCollection Date: 2025-12-01 DOI: 10.14740/jmc5161
Michele Venosa, Andrea Vespasiani, Emilio Romanini, Monica Nigri, Andrea Fidanza, Giandomenico Logroscino
{"title":"Radial Extracorporeal Shockwave Therapy for the Treatment of Chronic Refractory Coccygodynia.","authors":"Michele Venosa, Andrea Vespasiani, Emilio Romanini, Monica Nigri, Andrea Fidanza, Giandomenico Logroscino","doi":"10.14740/jmc5161","DOIUrl":"10.14740/jmc5161","url":null,"abstract":"<p><p>Coccygodynia, characterized by persistent pain in the coccyx area, is a debilitating condition with limited effective treatments. We report a case exploring the use of radial extracorporeal shockwave therapy (ESWT) as a noninvasive treatment for chronic refractory coccygodynia. A 39-year-old female patient presented with chronic coccygeal pain unresponsive to conventional therapies. A thorough review of the patient's medical history, clinical presentation, and imaging findings led to a diagnosis of idiopathic coccygodynia. Given her clinical situation and the failure of previous interventions, radial ESWT was considered a possible option due to its noninvasive nature and reported success in treating other chronic musculoskeletal conditions. Significant pain reduction and improved quality of life were observed 3 months post-treatment, as confirmed by the Visual Analog Scale (VAS), Pain Self Efficacy Questionnaire, Oswestry Disability Index, and Tampa Scale of Kinesiophobia scores. The beneficial effects were confirmed even at 12 months post-treatment follow-up, suggesting radial ESWT is a promising alternative therapeutic option. The positive outcomes in this case (though the evident limits of a case report) provide a foundation for considering radial ESWT in the broader context of managing chronic treatment-resistant coccygeal pain.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"467-474"},"PeriodicalIF":0.9,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717242","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
Anesthetic Challenges in the Management of a Rare Giant Biliary Mucinous Cystadenoma With Major Vascular Compression. 麻醉在治疗罕见巨大胆道粘液囊腺瘤伴大血管压迫中的挑战。
IF 0.9
Journal of medical cases Pub Date : 2025-11-22 eCollection Date: 2025-12-01 DOI: 10.14740/jmc5187
Mahmoud Elnahas, Sieglinde Hochrein, Jochen Thies, Mina Khalil, Patrik Topf, Philip Lang
{"title":"Anesthetic Challenges in the Management of a Rare Giant Biliary Mucinous Cystadenoma With Major Vascular Compression.","authors":"Mahmoud Elnahas, Sieglinde Hochrein, Jochen Thies, Mina Khalil, Patrik Topf, Philip Lang","doi":"10.14740/jmc5187","DOIUrl":"10.14740/jmc5187","url":null,"abstract":"<p><p>The anesthetic management of a patient with an extensive biliary mucinous cystadenoma presents unique challenges that necessitate careful consideration of the patient's physiological status, potential cardiopulmonary and hemodynamic changes resulting from elevated intra-abdominal pressure and possible compression of major abdominal vessels or, as well as the requirement for meticulous fluid and electrolyte management due to fluid and blood loss, and the provision of appropriate analgesic therapy. This case report describes the anesthetic management of a 22-year-old female diagnosed with a sizeable biliary mucinous cystadenoma measuring approximately 32 × 22 × 24 cm. It emphasizes the anesthetic considerations essential to ensure a safe and successful outcome.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"487-492"},"PeriodicalIF":0.9,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717208","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
Multi-Modality Imaging for Accurate Valvular Lesion Diagnosis: A Case Report of Catastrophic Outcomes From Unrecognized Severe Aortic Regurgitation. 多模态影像准确诊断瓣膜病变:一例未被识别的严重主动脉反流的灾难性后果报告。
IF 0.9
Journal of medical cases Pub Date : 2025-11-22 eCollection Date: 2025-12-01 DOI: 10.14740/jmc5177
Philip Nolan, Bridog Nic Aodhabhui, Rory O'Hanlon, Briain MacNeill
{"title":"Multi-Modality Imaging for Accurate Valvular Lesion Diagnosis: A Case Report of Catastrophic Outcomes From Unrecognized Severe Aortic Regurgitation.","authors":"Philip Nolan, Bridog Nic Aodhabhui, Rory O'Hanlon, Briain MacNeill","doi":"10.14740/jmc5177","DOIUrl":"10.14740/jmc5177","url":null,"abstract":"<p><p>Aortic regurgitation (AR) can be difficult to accurately quantify on echocardiography alone, potentially leading to erroneous grading. A 52-year-old male presented following resuscitation after an out-of-hospital cardiac arrest. He had been followed in the cardiology outpatient clinic for a number of years for monitoring of bicuspid aortic valve and associated AR. Regular transthoracic echocardiography and one transesophageal echocardiogram had shown moderate range AR. Cardiac magnetic resonance imaging reported the AR as severe with associated severely dilated left ventricle. Echocardiography grading and the patient's lack of symptoms supported a strategy of active surveillance. The presentation with cardiac arrest prompted re-evaluation of the severity of this patient's AR. Repeat cardiac magnetic resonance imaging re-affirmed severe AR, and the patient proceeded to surgical aortic valve replacement with a bioprosthetic valve. Post-operatively, the patient had heart failure with severely reduced ejection fraction. During hospital stay, he developed thyrotoxicosis secondary to amiodarone. This case demonstrates the discrepancy in assessing severity between different imaging techniques and highlights the potential complications in delayed intervention in AR.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"493-498"},"PeriodicalIF":0.9,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717241","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 Rare Cause of Umbilical Discharge in a Healthy Adult: A Case Report of Patent Urachal Sinus in Primary Care. 一个罕见的原因,在一个健康的成人脐排出:1例未闭尿管窦在初级保健报告。
IF 0.9
Journal of medical cases Pub Date : 2025-10-31 eCollection Date: 2025-11-01 DOI: 10.14740/jmc5199
Muhammad Tarmidzi Ibrahim, Zainal Adwin Zainal Abiddin, Mohd Shukry Mohd Khalid, Salma Yasmin Mohd Yusuf, Noorhida Baharudin
{"title":"A Rare Cause of Umbilical Discharge in a Healthy Adult: A Case Report of Patent Urachal Sinus in Primary Care.","authors":"Muhammad Tarmidzi Ibrahim, Zainal Adwin Zainal Abiddin, Mohd Shukry Mohd Khalid, Salma Yasmin Mohd Yusuf, Noorhida Baharudin","doi":"10.14740/jmc5199","DOIUrl":"10.14740/jmc5199","url":null,"abstract":"<p><p>Umbilical discharge in adults is a rare presentation in primary care and is frequently misdiagnosed as superficial infections, umbilical dermatitis, or abscesses, particularly in individuals with known predisposing factors such as obesity, poor hygiene, or diabetes mellitus. However, in the absence of these risk factors, the possibility of underlying congenital anomalies such as a patent urachus should be considered, as prompt recognition and diagnosis are paramount to prevent complications such as recurrent infections, abscess formation, and even malignant transformation. We report the case of a 29-year-old healthy male who presented to a primary care clinic with a 5-day history of purulent umbilical discharge and abdominal pain without associated fever or systemic symptoms. Physical examination revealed mild periumbilical erythema and purulent discharge but no palpable mass. The absence of typical risk factors for superficial infection raised clinical suspicion of an underlying pathology. Early diagnostic workup with ultrasound revealed a hypoechoic collection within the subcutaneous tissues, and subsequent contrast-enhanced computed tomography (CT) confirmed an infected umbilical urachal sinus. The patient was promptly referred to a surgical team for inpatient management. He was commenced on intravenous amoxicillin-clavulanic acid and underwent an incision and drainage for the infected umbilical urachal sinus. He made an uneventful recovery and was arranged for an elective laparoscopic excision of the urachal remnant. This case highlights several important learning points. In adults, urachal anomalies are rare and frequently misdiagnosed as superficial infections or abscesses, especially in the context of comorbidities such as diabetes and obesity. This case highlights the importance of maintaining a broad differential diagnosis, including rare congenital conditions such as a patent urachal sinus, when assessing adults presenting with umbilical discharge. It also illustrates the critical role of primary care providers in recognizing uncommon conditions, as timely recognition and diagnosis are essential for the effective management of this rare but potentially serious condition.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 11","pages":"456-460"},"PeriodicalIF":0.9,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145484606","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
Management of Multilevel Mid-Cervical Fractures in an Adult With Osteopetrosis. 成人多节段颈椎中骨折伴骨质疏松的治疗。
IF 0.9
Journal of medical cases Pub Date : 2025-10-31 eCollection Date: 2025-11-01 DOI: 10.14740/jmc5205
Hamza Mahdi, Abdul Haseeb Naeem
{"title":"Management of Multilevel Mid-Cervical Fractures in an Adult With Osteopetrosis.","authors":"Hamza Mahdi, Abdul Haseeb Naeem","doi":"10.14740/jmc5205","DOIUrl":"10.14740/jmc5205","url":null,"abstract":"<p><p>Osteopetrosis is a rare inherited osteoclast dysfunction disorder that produces bone that is both abnormally dense and brittle, complicating fracture management and internal fixation. Most cervical spine injuries reported in osteopetrosis involve the craniovertebral junction (C1-C2) and are treated surgically because of presumed instability. Reports of multilevel mid-cervical fractures with ligamentous injury successfully treated nonoperatively are exceedingly scarce. We present the case of a 22-year-old man with longstanding osteopetrosis who sustained high-energy trauma resulting in a displaced posterior-inferior C4 body fracture with associated left C4 lateral-mass involvement, nondisplaced left C3 inferior-facet and C6 pedicle fractures, and magnetic resonance imaging (MRI) evidence of focal cord T2 signal, posterior longitudinal ligament injury, and a small epidural hematoma. Despite this constellation - which, in normal bone, would often mandate operative stabilization - the patient remained neurologically intact, with acceptable alignment and negative vascular imaging. Given the unique surgical hazards of osteopetrotic bone (poor screw purchase, intraoperative fracture risk, delayed union), conservative management was chosen using a rigid cervical orthosis (Miami J<sup>®</sup>, Ossur ehf., Reykjavik, Iceland) and serial imaging follow-up. At 1 year, flexion-extension computed tomography demonstrated complete osseous bridging of the C3 facet and C4 body fractures, partial but stable bridging across the C4 facet and lamina and preserved alignment. The patient remained asymptomatic and neurologically intact. This case expands the evidence base for nonoperative management of cervical fractures in adult osteopetrosis beyond C1-C2 patterns. It highlights that rigid-collar immobilization, when neurological function and alignment are preserved and vascular injury is excluded, can yield stable union without surgery. Flexion-extension computed tomography provides a practical endpoint, supporting acceptance of stable partial radiographic healing when dynamic stability is maintained.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 11","pages":"461-466"},"PeriodicalIF":0.9,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145484032","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
Histoplasmosis-Associated Hemophagocytic Lymphohistiocytosis in the Setting of Granulomatosis With Polyangiitis. 肉芽肿合并多血管炎时组织浆菌病相关的噬血细胞性淋巴组织细胞增多症。
IF 0.9
Journal of medical cases Pub Date : 2025-10-31 eCollection Date: 2025-11-01 DOI: 10.14740/jmc5126
S Tahira Shah Naqvi, Jonathan Shakesprere, Grant Wojdyla, Nolan Holley, Cara Randall, Ion Prisneac, Danish Safi
{"title":"Histoplasmosis-Associated Hemophagocytic Lymphohistiocytosis in the Setting of Granulomatosis With Polyangiitis.","authors":"S Tahira Shah Naqvi, Jonathan Shakesprere, Grant Wojdyla, Nolan Holley, Cara Randall, Ion Prisneac, Danish Safi","doi":"10.14740/jmc5126","DOIUrl":"10.14740/jmc5126","url":null,"abstract":"<p><p>Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and potentially life-threatening syndrome of aberrant immune hyperactivation characterized by excess cytokine release due to abnormal cytotoxic T-cell and macrophage activation. Secondary, or acquired, HLH occurs in the setting of underlying infection, malignancy, or autoimmune processes and often presents with systemic symptoms and multi-organ dysfunction that can initially be misattributed to infection, leading to a delay in diagnosis and management. Histoplasmosis-associated HLH is an infrequently described manifestation of secondary HLH that can occur in the setting of immunocompromised states. A 67-year-old woman with a history of granulomatosis with polyangiitis on active mycophenolate mofetil treatment initially presented with persistent flu-like symptoms in the setting of pancytopenia and elevated liver enzymes. Despite appropriate sepsis evaluation and extensive antimicrobial treatment, she remained persistently febrile and developed acute respiratory failure. Lab work revealed severely abnormal coagulation factors, hypofibrinogenemia, hyperferritinemia, and hypertriglyceridemia concerning for underlying hematologic disease process. Bone marrow biopsy obtained showed a hypercellular marrow with histiocytosis and hemophagocytic forms as well as intracellular narrow-based budding yeast, confirming an HLH diagnosis and suggestive of disseminated histoplasmosis. She was subsequently started on a high-dose steroid taper, intravenous immunoglobulin, and anti-fungal therapy with clinical improvement and stabilization of blood counts. Post-discharge follow-up has not involved repeat hospitalizations. Diagnosing HLH requires consideration of both clinical and laboratory criteria but there remains a lack of consensus use, especially in adult patients and those with associated autoimmune disease. Furthermore, the clinical presentation of HLH can overlap significantly with sepsis or other acute illnesses, thus delaying timely diagnosis and interventions for optimal patient outcomes. Our case emphasizes the importance of early consideration and comprehensive evaluation in this setting for HLH and secondary causes, including fungal etiologies. Additional clinical reporting of this rare presentation can increase clinician recognition and highlight potential diagnostic and treatment approaches. Subsequent close clinical observation with serial examinations and biochemical marker follow-up are needed to assess response and evaluate for changes in treatment approach.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 11","pages":"427-433"},"PeriodicalIF":0.9,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12591231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145484070","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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