Journal of medical cases最新文献

Total Intravenous Anesthesia With Remimazolam and Remifentanil for Intraoperative Care of a Child With Venezuelan Heritage, at Risk for a Mitochondrial Disorder. 雷马唑仑和瑞芬太尼全静脉麻醉对一名有线粒体疾病风险的委内瑞拉血统儿童的术中护理

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5358

Michael Tobias, Kolapo Dairo, Natalie Slenkovich, Gregory Cambier, Joseph D Tobias

{"title":"Total Intravenous Anesthesia With Remimazolam and Remifentanil for Intraoperative Care of a Child With Venezuelan Heritage, at Risk for a Mitochondrial Disorder.","authors":"Michael Tobias, Kolapo Dairo, Natalie Slenkovich, Gregory Cambier, Joseph D Tobias","doi":"10.14740/jmc5358","DOIUrl":"10.14740/jmc5358","url":null,"abstract":"Recent clinical communications have alerted healthcare providers to potential concerns related to a previously undiagnosed disorder of mitochondrial function in children with maternal Venezuelan heritage. These patients have developed severe neurological damage following the administration of an apparently uneventful anesthetic that included the volatile anesthetic agent, sevoflurane. Subsequent analysis of family members and patients has identified a point mutation of the NADH dehydrogenase 4 (ND4) gene (mtND4 m.11232T>C), a subunit of complex I of the mitochondrial electron transport chain. Current recommendations include avoidance of volatile anesthetic agents and propofol. We present a 6-year-old child with Venezuelan heritage who presented for anesthetic care for reduction and percutaneous pinning of a supracondylar fracture. Total intravenous anesthesia (TIVA) was provided with remimazolam and remifentanil as the primary agents. Information regarding the current investigation of this novel mitochondrial defect is presented, options for anesthetic care reviewed, and the novel use of remimazolam and remifentanil as the primary agents for TIVA discussed.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"428-431"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581691","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

Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights. 两名患者的老年病骨增生异常：临床，遗传和管理见解。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5343

Waleed Almutairi, Ahmed Alibrahim, Faisal Alrashed, Obaid Alfuraydi

{"title":"Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights.","authors":"Waleed Almutairi, Ahmed Alibrahim, Faisal Alrashed, Obaid Alfuraydi","doi":"10.14740/jmc5343","DOIUrl":"10.14740/jmc5343","url":null,"abstract":"Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder caused by pathogenic variants in the GORAB gene, characterized by premature skin ageing, joint laxity, and osteoporosis leading to recurrent fragility fractures. We described two adult Saudi patients with genetically confirmed GO. The first case involved a 34-year-old male with incidental vertebral fractures, congenital hip dislocation, and low bone mineral density (BMD) in the absence of secondary causes. The second case was a 35-year-old female with longstanding skeletal fragility, scoliosis, and prior hip fixation, also showing markedly reduced BMD. Both patients were born to consanguineous parents and had unremarkable hormonal and metabolic evaluations. Genetic testing confirmed the presence of homozygous pathogenic GORAB variants. Management included bone-directed therapy-romosozumab in the male patient and zoledronic acid in the female-along with calcium and vitamin D supplementation. These cases expand the phenotypic and therapeutic spectrum of GO and highlight the importance of considering rare genetic causes of osteoporosis in young adults, especially within consanguineous populations. Early recognition, genetic confirmation, and multidisciplinary management are crucial for optimizing outcomes and improving quality of life in affected individuals.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"415-423"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581693","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

Clinical Correlation of the Folts Model of Ischemia in a Middle-Aged Woman With Poorly Controlled Type 2 Diabetes. 中年女性2型糖尿病控制不佳患者缺血Folts模型的临床相关性

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5326

Varshitha Tumkur Panduranga, Serena Joseph, Joseph Jayaraj, Amin Agah, Jonathan D Marmur, Louis Salciccioli

{"title":"Clinical Correlation of the Folts Model of Ischemia in a Middle-Aged Woman With Poorly Controlled Type 2 Diabetes.","authors":"Varshitha Tumkur Panduranga, Serena Joseph, Joseph Jayaraj, Amin Agah, Jonathan D Marmur, Louis Salciccioli","doi":"10.14740/jmc5326","DOIUrl":"10.14740/jmc5326","url":null,"abstract":"Folts model of ischemia describes cyclic flow reduction (CFR) resulting from interaction of severe vessel stenosis and super-imposed episodic platelet-rich thrombus formation. Episodic platelet aggregation at the stenotic site produces partial or near-total obstruction, causing transient ischemia that resolves spontaneously without persistent vessel occlusion. Here we present a case of 50-year-old woman with uncontrolled type 2 diabetes with severe chest pain following weeks of brief, self-resolving episodes at rest and with exertion. Despite serially negative high-sensitivity troponins and nonspecific T-wave changes on 12-lead electrocardiogram, her high-risk features prompted angiography, which revealed a critical 95% mid-left anterior descending artery stenosis. The pattern of recurrent, transient ischemic symptoms without biomarker elevation closely reflected Folts's model of CRF, in which severe fixed stenosis promotes episodic platelet-mediated obstruction. Intravascular ultrasound-guided percutaneous coronary intervention with drug-eluting stent placement restored normal flow, and her symptoms resolved. This case illustrates how clinical unstable angina can mirror the physiologic principles described in Folts's model and underscores the need for early invasive evaluation even in the absence of infarction.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"380-384"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148582029","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

Emergency Laparoscopic Appendectomy in a High-Risk Cardiac Patient With Severe Left Main Coronary Artery Disease on Dual Antiplatelet Therapy. 急诊腹腔镜阑尾切除术合并严重左主干冠心病高危心脏病患者的双重抗血小板治疗。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5327

Blerim Arapi, Alma Cani, Rudin Domi, Gentian Huti, Asead Abdyli, Krenar Lilaj, Filadelfo Coniglione, Mustafa Bajraktari, Rinard Kortoci, Majlinda Naco, Arjana Sina, Migena Vargu, Ergita Nelaj, Vedat Eljezi

{"title":"Emergency Laparoscopic Appendectomy in a High-Risk Cardiac Patient With Severe Left Main Coronary Artery Disease on Dual Antiplatelet Therapy.","authors":"Blerim Arapi, Alma Cani, Rudin Domi, Gentian Huti, Asead Abdyli, Krenar Lilaj, Filadelfo Coniglione, Mustafa Bajraktari, Rinard Kortoci, Majlinda Naco, Arjana Sina, Migena Vargu, Ergita Nelaj, Vedat Eljezi","doi":"10.14740/jmc5327","DOIUrl":"10.14740/jmc5327","url":null,"abstract":"Emergency noncardiac surgery in patients with advanced coronary artery disease and recent coronary stent implantation poses a substantial anesthetic challenge. Clinicians must carefully balance the heightened risk of perioperative bleeding associated with continued dual antiplatelet therapy against the potentially catastrophic risk of stent thrombosis if such therapy is interrupted. We described the perioperative management of a 68-year-old man with severe multivessel coronary artery disease, critical left main stenosis, impaired left ventricular function, and recent coronary stenting, who required emergency laparoscopic appendectomy for perforated appendicitis. General anesthesia was administered with comprehensive invasive hemodynamic monitoring and tailored vasopressor support. The procedure was completed successfully, and the postoperative course was uneventful. This case underscored the feasibility of proceeding with emergency laparoscopic abdominal surgery without interruption of dual antiplatelet therapy in a patient with high-risk coronary anatomy, including left main disease. It highlighted a pragmatic, individualized anesthetic strategy integrating advanced hemodynamic monitoring, goal-directed support, and close multidisciplinary coordination, offering practical insight into managing the competing risks of bleeding and stent thrombosis in time-critical surgical settings.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"385-393"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148582031","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

Aggressive Primary Sacral Non-Hodgkin Lymphoma Associated With Systemic Lupus Erythematosus. 伴有系统性红斑狼疮的侵袭性原发性骶骨非霍奇金淋巴瘤。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5328

Claudia Katiuska Gonzalez-Valdez, Gabriel Galvan-Salazar, Sharon Herrera-Cifuentes, Alejandro Ramos-Alanis, Fernando Pazos-Gomez, Jonas Galindo-Mora, Hector Alva-Sanchez, Rebeca Gil-Garcia

{"title":"Aggressive Primary Sacral Non-Hodgkin Lymphoma Associated With Systemic Lupus Erythematosus.","authors":"Claudia Katiuska Gonzalez-Valdez, Gabriel Galvan-Salazar, Sharon Herrera-Cifuentes, Alejandro Ramos-Alanis, Fernando Pazos-Gomez, Jonas Galindo-Mora, Hector Alva-Sanchez, Rebeca Gil-Garcia","doi":"10.14740/jmc5328","DOIUrl":"10.14740/jmc5328","url":null,"abstract":"In this case report, we discuss a 36-year-old female patient diagnosed with a rare and aggressive sacral non-Hodgkin lymphoma. The patient presented with a rapidly progressive low back pain radiating to both lower limbs and, following a neurosurgical resection, was diagnosed with sacral non-Hodgkin lymphoma. Sacral involvement is rare among bone pathologies, accounting for only 1-7% of all spinal tumors. The association of this neoplasm with systemic lupus erythematosus at this anatomical site is uncommon and was correlated with an aggressive clinical course in our patient. Magnetic resonance imaging revealed lytic and infiltrative lesions involving the sacrum and L4 on T1- and T2-weighted sequences. Histopathological and immunohistochemical analyses confirmed a diagnosis of diffuse large B-cell lymphoma, expressing CD20, Bcl-6, Bcl-2, CD10, PAX-5, MUM-1, and c-MYC, with a high proliferative index (Ki-67: 90%), and negative for CD3, CK AE1/AE3, CD30, and TdT. During disease progression, the patient developed multiple metastases involving the brain, breast, lung, and submandibular lymph node. Despite treatment with combined chemotherapy and radiotherapy, the aggressive nature of the disease resulted in a poor prognosis.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"394-400"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581966","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

Encountering the Unusual: Anesthesia Mumps as a Rare Postoperative Complication in a Ventriculoperitoneal Shunt Surgery. 遇到不寻常的：麻醉腮腺炎是脑室-腹膜分流术中一种罕见的术后并发症。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5332

Rufina Ning, Abdul Naeem

{"title":"Encountering the Unusual: Anesthesia Mumps as a Rare Postoperative Complication in a Ventriculoperitoneal Shunt Surgery.","authors":"Rufina Ning, Abdul Naeem","doi":"10.14740/jmc5332","DOIUrl":"10.14740/jmc5332","url":null,"abstract":"An 87-year-old man with a history of World Health Organization (WHO) grade IV glioblastoma resection developed hydrocephalus and underwent a ventriculoperitoneal (VP) shunt insertion as an American Society of Anesthesiologists (ASA) class 4E patient with a body mass index (BMI) of 24.3 and postoperatively was found to have acute bilateral parotid glands swelling after 2 h post-extubation. He became acutely unwell with sinus tachycardia, hypertension, and a drop in SpO2 to 82%. Primary interventions included oxygen supplementation, 1 L bolus of normal saline, pain control, and a non-contrast computed tomography of the head and neck to evaluate cause of swelling, which revealed subcutaneous edema without evidence of hematoma. Patient was weaned off oxygen and monitored over the next 48 h, and face and neck swelling resolved without any further interventions. To our knowledge, the occurrence of anesthesia mumps (AM) described as acute, transient bilateral parotid gland swelling without purulence, has not been documented in the setting of a VP shunt insertion. This case represents a novel contribution to the literature and expands our understanding of the clinical contexts in which AM may arise. Risk factors for AM in this case included poor oral hygiene and nutritional status, prolonged \"nothing by mouth\" (NPO) status while awaiting surgery, and significant rotation of the head in neurosurgery such as a VP shunt insertion.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"401-405"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581990","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

Anesthesia Mumps With Transient Airway Compromise Following Spinal Anesthesia for Emergency Cesarean Delivery. 紧急剖宫产脊髓麻醉后麻醉腮腺炎伴一过性气道损伤。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5347

Egzon Daku, Rajmonda Nallbani, Fatos Sada, Leon B Hajdari

引用次数: 0

Triple-Negative Inflammatory Metaplastic Breast Cancer Presenting as a Non-Mass Lesion. 三阴性炎性化生性乳腺癌表现为非肿块性病变。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5342

Zhi Qiao Wang, Zi Hui Huang, Jin Hui Gao, Lian Qing Hong, Cheng Yu Wu

{"title":"Triple-Negative Inflammatory Metaplastic Breast Cancer Presenting as a Non-Mass Lesion.","authors":"Zhi Qiao Wang, Zi Hui Huang, Jin Hui Gao, Lian Qing Hong, Cheng Yu Wu","doi":"10.14740/jmc5342","DOIUrl":"10.14740/jmc5342","url":null,"abstract":"Inflammatory breast cancer is exceedingly rare, especially when the pathology involves invasive carcinoma alongside metaplastic carcinoma. This disease constitutes a diagnostic and therapeutic challenge, largely due to a scarcity of documented cases in the literature. We reported a case of a female patient who presented with axillary lymphadenopathy and diffuse swelling of a single breast without a solid mass. During hospitalization, she underwent various diagnostic procedures, including lymph node fine-needle aspiration, axillary lymph node biopsy, pleural effusion puncture, magnetic resonance imaging (MRI), and positron emission tomography-computed tomography (PET-CT). Despite these extensive investigations, a definitive diagnosis could not be established. The pathological nature was ultimately clarified through a core needle biopsy of the breast lesion, which subsequently guided the clinical treatment. This case highlights the complexity and challenge of diagnosing metaplastic carcinoma within inflammatory breast cancer, as well as the necessity of performing a core needle biopsy on inflammatory lesions when no solid mass is present.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"406-414"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581678","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 Delicate Balance: Immunotherapy for Endometrial Cancer in a Patient With Multiple Sclerosis. 一个微妙的平衡：免疫治疗子宫内膜癌患者多发性硬化症。

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5260

Antonio Ruggiero, Chiara Redemagni, Cristina Angela Camnasio, Vittoria Morteo, Federica Carcagni, Simone Zatti, Ilaria Strada, Marianna Roccio, Eleonora Rigoni, Chiara Cassani, Elena Colombo

{"title":"A Delicate Balance: Immunotherapy for Endometrial Cancer in a Patient With Multiple Sclerosis.","authors":"Antonio Ruggiero, Chiara Redemagni, Cristina Angela Camnasio, Vittoria Morteo, Federica Carcagni, Simone Zatti, Ilaria Strada, Marianna Roccio, Eleonora Rigoni, Chiara Cassani, Elena Colombo","doi":"10.14740/jmc5260","DOIUrl":"10.14740/jmc5260","url":null,"abstract":"Multiple sclerosis (MS) is a chronic immune-mediated disease that may complicate oncological management, particularly when immune checkpoint inhibitors (ICIs) are indicated. Evidence regarding the safety of ICIs in patients with pre-existing MS remains limited, especially in older patients and in the first-line treatment of endometrial cancer (EC). We present the case of a 71-year-old woman with relapsing-remitting MS (radiologically stable for > 12 months) and stage IIIC1 mismatch repair-deficient/microsatellite instability-high EC who was treated with first-line carboplatin-paclitaxel combined with programmed cell death protein 1 (PD-1) inhibitor dostarlimab. Ozanimod, which had been used to manage her MS, was temporarily discontinued prior to chemotherapy. No clinical relapses or new magnetic resonance imaging (MRI) activity were observed during combination therapy or throughout a 12-month interim follow-up. Dostarlimab maintenance therapy is ongoing. This case suggests that ICIs may be cautiously integrated into the treatment of selected patients with MS and advanced EC when baseline neurological stability, patient age, and prior disease-modifying therapy are carefully considered. Close interdisciplinary collaboration and structured neurological monitoring are essential. Longer follow-up is required to confirm long-term neurological safety.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"371-375"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581962","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

Marked Hypervitaminemia B12 Associated With Previously Unrecognized Alcohol-Related Cirrhosis Revealed During Alcohol Withdrawal. 在戒酒期间发现与先前未被识别的酒精相关肝硬化相关的显著高维生素B12血症

IF 0.5

Journal of medical cases Pub Date : 2026-07-01 eCollection Date: 2026-08-01 DOI: 10.14740/jmc5323

Abrar-Ahmad Zulfiqar

{"title":"Marked Hypervitaminemia B12 Associated With Previously Unrecognized Alcohol-Related Cirrhosis Revealed During Alcohol Withdrawal.","authors":"Abrar-Ahmad Zulfiqar","doi":"10.14740/jmc5323","DOIUrl":"10.14740/jmc5323","url":null,"abstract":"Vitamin B12 deficiency is commonly investigated in clinical practice, particularly in patients with anemia, neurological disorders, or malnutrition. In contrast, elevated serum vitamin B12 levels are less frequently discussed and may be overlooked by clinicians. However, hypervitaminemia B12 has been associated with several underlying conditions, including liver diseases, hematological malignancies, solid tumors, and chronic kidney disease. Liver injury may lead to increased circulating levels of vitamin B12 due to hepatocellular release and altered metabolism of cobalamin-binding proteins. We report the case of a 44-year-old man admitted for planned alcohol withdrawal after a 10-year history of chronic alcohol consumption estimated at 80-100 g of ethanol per day. Physical examination revealed moderate facial couperosis, a sharp inferior liver edge on palpation, and a few spider angiomas without ascites or signs of hepatic encephalopathy. Laboratory investigations showed macrocytosis without anemia, mild thrombocytopenia, moderate hepatic cytolysis, and markedly elevated gamma-glutamyl transferase levels. A significant hypervitaminemia B12 was identified with a serum concentration of 1,124 pg/mL. Additional findings included mild hyperferritinemia, albumin at 32 g/L, and prothrombin time at 75%. Alpha-fetoprotein levels were within the normal range. Abdominal ultrasound demonstrated morphological features consistent with liver cirrhosis without focal hepatic lesions. The patient was classified as Child-Pugh class A, and the FIB-4 score was calculated at 6.2, suggesting advanced liver fibrosis. This case highlights that elevated serum vitamin B12 may represent an important biological marker of underlying liver disease, particularly alcohol-related cirrhosis. Recognition of hypervitaminemia B12 in patients with chronic alcohol consumption should prompt further evaluation for liver disease and may contribute to earlier detection of chronic hepatopathies.","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 8","pages":"376-379"},"PeriodicalIF":0.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13375441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581722","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