European journal of case reports in internal medicine最新文献

{"title":"Scimitar Syndrome: Unveiling the Complexities of a rare Congenital Cardiopulmonary Anomaly.","authors":"Nargis Mateen, Abraam Rezkalla, Nagihan Orhun","doi":"10.12890/2025_005044","DOIUrl":"10.12890/2025_005044","url":null,"abstract":"<p><p>Scimitar syndrome is a rare congenital anomaly characterised by anomalous pulmonary venous drainage of the right lung into the inferior vena cava, often accompanied by right lung hypoplasia and dextroposition of the heart. Here, we present the case of a 24-year-old female with scimitar syndrome and a history of asthma who presented with acute exacerbation of asthma. A chest X-ray revealed opacification of the right hemithorax, and a CT angiography revealed congenital hypoplasia of the right lung and dextrocardia. This report provides a detailed description of scimitar syndrome to spread awareness of this rare diagnosis and highlights the unique and various constellations of anatomical abnormalities seen in scimitar syndrome that make diagnosis difficult.</p><p><strong>Learning points: </strong>Scimitar syndrome is an extremely rare congenital cardiopulmonary anomaly and diagnostic challenge, with key features of partial or complete anomalous venous drainage of the right lung into the inferior vena cava. It exhibits varying degrees of right lung and pulmonary artery hypoplasia, dextrocardia and abnormal arterial supply to the ipsilateral lung.The adult form of this rare syndrome may remain underdiagnosed for years due to its less severe clinical presentation or incidental findings, such as recurrent pulmonary infections or unexplained dyspnoea.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005044"},"PeriodicalIF":0.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572463","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":"Rare Pseudotumoral Hepatic Tuberculosis Mimicking Malignancy: A Diagnostic and Therapeutic Challenge.","authors":"Mohamed Labied, Rahma Khabab, Chorouk Mountassir, Ghizlane Lembarki, Mouna Sabiri, Samira Lezar","doi":"10.12890/2025_005162","DOIUrl":"10.12890/2025_005162","url":null,"abstract":"<p><p>Pseudotumoral hepatic tuberculosis (TB) is an exceptionally rare manifestation of TB, often mimicking hepatic malignancy on imaging studies. We report the case of a 51-year-old female diagnosed with a low-grade tubulovillous adenoma of the ampulla of Vater, who presented with hepatic lesions initially suspected to be metastatic. Magnetic resonance imaging (MRI) revealed multiple hypointense lesions with heterogeneous enhancement and restricted diffusion. Histopathological examination of a liver biopsy confirmed the diagnosis of pseudotumoral TB. The patient underwent a 6-month course of antitubercular therapy, after which follow-up MRI demonstrated complete resolution of the hepatic lesions. This case highlights the importance of considering pseudotumoral hepatic TB in the differential diagnosis of hepatic masses, particularly in regions with a high prevalence of TB. Histological confirmation remains essential, and timely initiation of antitubercular treatment can result in excellent clinical outcomes.</p><p><strong>Learning points: </strong>This case underscores the importance of including hepatic tuberculosis (TB), particularly its rare pseudotumoral form, in the differential diagnosis of hepatic masses, even in immunocompetent patients without pulmonary involvement or in non-endemic regions.Imaging findings alone may mimic malignancy, emphasizing the critical role of liver biopsy and histopathological analysis in achieving a definitive diagnosis and avoiding unnecessary surgical interventions.Recognizing atypical forms of TB is crucial for timely initiation of antitubercular therapy, which can lead to complete resolution and prevent potentially fatal complications.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005162"},"PeriodicalIF":0.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572442","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":"Recurrent Spontaneous Pneumothorax in the Setting of Amyotrophic Lateral Sclerosis.","authors":"Abdelkader Dib, Johny Salem, Mirna Fares","doi":"10.12890/2025_005151","DOIUrl":"10.12890/2025_005151","url":null,"abstract":"<p><p>Spontaneous pneumothorax (SP) occurrence in amyotrophic lateral sclerosis (ALS) patients is relatively rare and may thus be under-recognised. This latter is a progressive neurodegenerative disorder, leading to muscle weakness and such respiratory complications. This article reports a case manifesting such a rare association.</p><p><strong>Learning points: </strong>The presence of spontaneous pneumothorax in amyotrophic lateral sclerosis patients can exacerbate respiratory insufficiency, leading to acute respiratory failure.Given the under-recognition of this latter complication, clinicians should maintain a high index of suspicion, especially in patients with amyotrophic lateral sclerosis presenting with sudden onset of dyspnoea or chest pain.Early detection and appropriate management are crucial to prevent further respiratory compromise.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005151"},"PeriodicalIF":0.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572448","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":"An Association between MEFV Mutation and ANCA-Associated Vasculitis Involving the Central Nervous System and Lungs: Causality Under Scrutiny.","authors":"Marcus Villander Barros de Oliveira Sá, Amanda Brito, Miriam Baié, Flávio Pacheco, Luydson Vasconcelos","doi":"10.12890/2025_005127","DOIUrl":"10.12890/2025_005127","url":null,"abstract":"<p><p>Familial Mediterranean fever (FMF) is traditionally associated with biallelic mutations in the MEFV gene; however, heterozygous mutations may also contribute to disease phenotypes. We report the case of a 42-year-old woman with heterozygous p.Met694Ile MEFV mutation, presenting with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis involving the central nervous system and lungs. Her clinical course was marked by immune dysregulation, autoimmunity and inflammatory manifestations, including urticarial neutrophilic dermatoses and IgM deficiency. This case highlights the potential pathogenic role of heterozygous MEFV mutations in ANCA-associated vasculitis, expanding the clinical spectrum of FMF-related inflammatory diseases. Genetic investigation is essential in patients with overlapping autoimmune and autoinflammatory features to guide appropriate diagnosis and management.</p><p><strong>Learning points: </strong>Systemic vasculitis may be associated with MEFV mutations as a spectrum of the clinical presentation of familial Mediterranean fever.MEFV heterozygous mutations may be associated with manifestations of immune dysregulation.Beware of inborn errors of immunity even in adult patients.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005127"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572380","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":"Paroxysmal Toothache after Drinking: Alcohol-Induced Vasospastic Angina.","authors":"Kosuke Ishizuka, Yoshiyuki Ohira, Mitsuyasu Ohta","doi":"10.12890/2025_005170","DOIUrl":"10.12890/2025_005170","url":null,"abstract":"<p><p>A 68-year-old Japanese man presented with recurrent paroxysmal toothache exclusively after alcohol consumption. The episodes occurred 2-3 hours after drinking, lasted 10-15 minutes, and were unrelated to exertion or eating, chewing, or brushing the teeth. Physical examination and laboratory tests were unremarkable. Vasospastic angina was suspected based on the episodic nature and association with alcohol. Symptoms resolved within 1-2 minutes of nitroglycerin administration, confirming the diagnosis of alcohol-induced vasospastic angina. This case highlights the importance of considering cardiac causes, including vasospastic angina, in patients with unexplained paroxysmal symptoms such as toothache, especially when triggered by alcohol consumption.</p><p><strong>Learning points: </strong>Vasospastic angina is caused by transient abnormal contraction of the coronary arteries. Episodes last for 5-15 minutes and are most common in the late evening and early morning.In some patients with vasospastic angina, attacks occur only on drinking days, several hours after drinking. Alcohol-induced vasospastic angina is thought to be attributable to a functional disorder of vascular smooth muscle caused by acetaldehyde accumulation due to alcohol metabolism or transient coronary artery spasm associated with magnesium deficiency and increased endothelin-1 activity.Vasospastic angina can manifest as pain in the head and neck, teeth, arms and shoulders, and is often accompanied by chest pain. However, toothache can be the only symptom and is often bilateral, as in this case.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005170"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572452","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":"<i>Streptococcus Pneumoniae</i> Meningitis Complicated by Hygroma and Vasculitis.","authors":"Abdelkader Dib, Johny Salem, Mohamad Dawood, Omar Osman, Mirna Fares","doi":"10.12890/2025_005132","DOIUrl":"10.12890/2025_005132","url":null,"abstract":"<p><p>Hygroma and vasculitis are rare complications of meningitis, that are serious and potentially fatal. In this case report, we present a 71-year-old male diagnosed with <i>Streptococcus pneumoniae</i> meningitis who developed bilateral subdural hygroma and vasculitis despite appropriate treatment in the intensive care unit. The patient experienced seizures and persistent febrile episodes, leading to the diagnosis of these complications. Despite surgical and medical management, the patient's neurological status did not improve, and he remained comatose and was eventually transitioned to palliative care.</p><p><strong>Learning points: </strong>Bacterial meningitis can be complicated by rare events such as subdural hygroma and vasculitis.While surgical and medical interventions are essential, the outcomes often depend on the severity of initial infection and timely recognition of complications in order to adjust therapy as soon as possible.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005132"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572216","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 Viral Comeback: Recurrent Varicella in A Young Adult Female.","authors":"Idan Jeger, Sam Proesmans","doi":"10.12890/2025_005133","DOIUrl":"10.12890/2025_005133","url":null,"abstract":"<p><p>An otherwise healthy young adult female presented to our clinic with a second episode of varicella. Our patient had a diffuse vesicular rash, reminiscent of childhood varicella, accompanied by constitutional symptoms. This rare presentation of a common virus required careful diagnostic and therapeutic decision-making, with a targeted approach based on clinical presentation and risk factors. As this patient was sexually active, there was concern for a mild case of monkeypox or herpes simplex. A polymerase cain reaction test on a skin vesicle was crucial to distinguish between these viral infections and make a diagnosis. With symptomatic treatment, the outcome was favourable. However, internationally recognised practice guidelines do recommend antiviral treatment. Adolescents and adults are at a higher risk of disseminated varicella, with severe and fatal outcomes. Further investigation of underlying immune impairment is also warranted.</p><p><strong>Learning points: </strong>There are several possible causes of a diffuse vesicular rash in sexually active individuals.Varicella (chickenpox) can occur more than once.A polymerase chain reaction test may be required to distinguish between herpes simplex, varicella zoster and monkeypox infections.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 3","pages":"005133"},"PeriodicalIF":0.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572363","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":"Recurrent Cardiac Tamponade as a Complication of Prolonged Left Bundle Branch Area Pacing.","authors":"Nurshafira Kamarulzaman, Wan Nur Amirah Wan Abdullah, Mohd Khairi Othman, W Yus Haniff W Isa, Zurkurnai Yusof, Ahmad Aizuddin Mohamad Jamali, Zulkeflee Muhammad","doi":"10.12890/2025_005144","DOIUrl":"10.12890/2025_005144","url":null,"abstract":"<p><p>Post-cardiac injury syndrome (PCIS) is one of the complications of cardiac interventional procedures. This condition has been postulated to be due to an immune reaction, especially with pacemaker lead implantation. Patients with PCIS can have uncomplicated pericardial effusion until they develop cardiac tamponade. The management of PCIS, which can be conservative management or require pericardiocentesis or surgery depends on the patient's clinical symptoms. As the left bundle branch area pacing (LBBAP) implantation technique and technology are still new, it is associated with longer procedural time than conventional pacemaker implantation. Herein, we report a case of PCIS in a patient who had a prolonged LBBAP procedure due to difficult anatomy and presented with recurrent cardiac tamponade.</p><p><strong>Learning points: </strong>Prolonged fluoroscopy in cardiac procedures can potentially lead to post-cardiac injury syndrome.Active pacemaker lead fixation is one of the risk factors for post-cardiac injury syndrome due to immune reaction.Left bundle branch area pacing in adults with congenital heart disease is challenging because of anatomical differences.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 2","pages":"005144"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11801510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381776","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":"Prolonged Femoral Compression Post Percutaneous Coronary Intervention Leading to Deep Vein Thrombosis.","authors":"Amer Abu-Shanab, Jillianne Unas, Hamzeh Nasr, Zain Albdour, Ahmad Abdulraheem, Doantrang Du","doi":"10.12890/2025_005131","DOIUrl":"10.12890/2025_005131","url":null,"abstract":"<p><p>Deep vein thrombosis is an uncommon yet significant complication of percutaneous coronary interventions. Prolonged manual compression at the access site, a common practice for achieving hemostasis, can inadvertently exacerbate thrombosis risks, including venous stasis and endothelial injury. We present the case of an 84-year-old female with coronary artery disease who underwent staged percutaneous coronary intervention with stent placement in the left circumflex and left anterior descending arteries. After the procedure, manual pressure was applied to the femoral access site for over 30 minutes, after which the patient developed hypotension and leg pain. Point-of-care ultrasound revealed a large deep vein thrombosis in the right femoral vein, extending into the profunda and saphenous veins. The patient was treated with a heparin drip and monitored without surgical intervention. Her condition improved, and follow-up imaging confirmed resolution of the deep vein thrombosis. This case underscores the risks associated with extended manual compression and highlights the importance of adhering to guidelines for post percutaneous coronary intervention care. The use of vascular closure devices may reduce the likelihood of such complications. Additionally, early recognition and management of deep vein thrombosis is critical in preventing further thromboembolic events and improving patient outcomes.</p><p><strong>Learning points: </strong><b>Recognizing the risks of prolonged compression</b> This case highlights that manual compression exceeding recommended durations can lead to complications like deep vein thrombosis, reinforcing the importance of adhering to established guidelines.<b>Considering vascular closure devices</b> The use of vascular closure devices as an alternative to manual compression can significantly reduce the risk of thrombosis and other access site complications, enhancing post-procedure safety.<b>Recognizing risks in routine procedures</b> Even common procedures like percutaneous coronary intervention can sometimes lead to serious complications, such as deep vein thrombosis. This case highlights the need to stay vigilant and manage these risks effectively when they occur.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 2","pages":"005131"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11801503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381768","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":"Unmasking of Normocalcemic Primary Hyperparathyroidism After Sodium-Glucose Cotransporter-2 Inhibitor Initiation.","authors":"Christodoulos Dolapsakis, Emmanouil Karofylakis, Stamatios Chalvatzis","doi":"10.12890/2025_005169","DOIUrl":"10.12890/2025_005169","url":null,"abstract":"<p><p>Sodium-glucose cotransporter-2 (SGLT2) inhibitors have complex interactions with bone metabolism, including an increase in parathyroid hormone (PTH) levels. Here we report a case of a SGLT2 inhibitor-induced hypercalcemia due to primary hyperparathyroidism. In the subset of patients with normocalcemic primary hyperparathyroidism, SGLT2 inhibitor initiation can unmask the disorder causing overt hypercalcaemic hyperparathyroidism. Although normocalcemic primary hyperparathyroidism is a rare entity, we propose obtaining a baseline PTH level before starting a SGLT2 inhibitor in patients with calcium levels in the upper limit of normal and normal total 25-hydroxyvitamin D levels, especially if they are under vitamin D supplementation. PTH should be rechecked in order to exclude overt primary hyperparathyroidism.</p><p><strong>Learning points: </strong>Sodium-glucose cotransporter-2 (SGLT2) inhibitors are a class of medications that cause secondary hyperparathyroidism.In patients with normocalcemic primary hyperparathyroidism, SGLT2 inhibitor' initiation can cause overt hyperparathyroidism and hypercalcemia.We propose obtaining a baseline parathyroid hormone level before starting a SGLT2 inhibitor in patients with calcium levels in the upper limit of normal especially if they are under vitamin D supplementation.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 2","pages":"005169"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11801508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381851","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}