European journal of case reports in internal medicine最新文献

{"title":"Short-Coupled Premature Ventricular Contractions in a Young Male with Sudden Cardiac Arrest.","authors":"Taha Mansoor, Francisco Flavio Costa Filho, Alan Furlan, Marcos Madeiro, Matthew Kelly, Santhosh K G Koshy, Thomas Franzon","doi":"10.12890/2025_005443","DOIUrl":"10.12890/2025_005443","url":null,"abstract":"<p><strong>Introduction: </strong>Idiopathic ventricular fibrillation secondary to short-coupled premature ventricular contractions (scPVCs) is a rare cause of sudden cardiac arrest and predominantly originates from the His-Purkinje system or right ventricular outflow tract.</p><p><strong>Case description: </strong>A 36-year-old man with prior episodes of palpitations and a normal Holter monitor evaluation as well as a family history of sudden cardiac death presented following an out-of-hospital ventricular fibrillation cardiac arrest. After exclusion of other etiologies including structural, ischemic, and primary electrical disease, as well as the demonstration of scPVCs with moderator band origin, a diagnosis of scPVCs leading to sudden cardiac arrest was made. Following implantable cardioverter defibrillator and treatment of other medical concerns, he was discharged home.</p><p><strong>Conclusion: </strong>Idiopathic ventricular fibrillation is an uncommon cause of sudden cardiac arrest. The diagnosis is made after the exclusion of other etiologies and the demonstration of characteristic electrocardiogram findings.</p><p><strong>Learning points: </strong>Short-coupled premature ventricular contractions are a rare cause of sudden cardiac arrest.The diagnosis is based on the demonstration of characteristic electrocardiogram findings and the exclusion of other etiologies including structural, ischemic, and primary electrical disease.Treatment involves pharmacotherapy, implantable cardioverter defibrillator placement, and cardiac ablation.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005443"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274494","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":"Terminal Ileal Endometriosis Masquerading as Crohn's Disease: A Rare Cause of Small Bowel Obstruction and Perforation in a Middle-Aged Woman.","authors":"Philippe Attieh, Emilio Irani, Joy Raheb, Roy Raheb, Karam Karam, Elias Fiani","doi":"10.12890/2025_005472","DOIUrl":"10.12890/2025_005472","url":null,"abstract":"<p><p>Endometriosis is a chronic inflammatory condition affecting 5-10% of women of reproductive age, most commonly involving pelvic organs. Gastrointestinal endometriosis, particularly at the terminal ileum, is rare and can clinically mimic other conditions such as Crohn's disease, posing significant diagnostic challenges. We report the case of a 45-year-old woman with no prior medical or gynecologic history who presented with a 1-week history of nausea, vomiting, abdominal pain, and obstipation. Imaging studies revealed terminal ileal lesions, and colonoscopy identified a large obstructive polypoid lesion 4 cm proximal to the ileocecal valve. She underwent laparoscopic ileocolic resection, which revealed an obstructed and perforated terminal ileum. Histopathological analysis demonstrated florid granulation tissue, subserosal fibrosis, and a purulent exudate, with endometriotic inclusions comprising endometrial glands and stroma in the terminal ileum and appendix. The ileal and colonic mucosa were unremarkable, and no reactive lymphadenopathy was found. A final diagnosis of ileal endometriosis was made. Postoperatively, the patient recovered well, required no additional medical therapy, and experienced a significant improvement in symptoms without recurrence. This case highlights an unusual presentation of terminal ileal endometriosis causing small bowel obstruction and perforation, masquerading as Crohn's disease. The absence of typical gynecologic symptoms or mucosal abnormalities underscores the diagnostic complexity. Recognition of this rare entity is crucial, as timely surgical intervention can be curative and significantly enhance patient outcomes. This case reinforces the importance of maintaining a broad differential diagnosis in women presenting with unexplained gastrointestinal symptoms and ileal lesions.</p><p><strong>Learning points: </strong>This case underscores the rare and deceptive presentation of ileal endometriosis mimicking Crohn's disease, culminating in small bowel obstruction and perforation in a patient without any prior history or gynecologic symptoms.What sets this case apart is the presence of both ileal and appendiceal endometriotic inclusions, in the absence of typical mucosal involvement or prior diagnosis of endometriosis.The diagnosis was only confirmed postoperatively through histopathology, reinforcing the importance of considering endometriosis in the differential diagnosis of terminal ileal lesions-even in patients beyond peak reproductive years and with no classic symptoms.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005472"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274499","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":"Adult-Onset Still's Disease with Dermatomyositis-Like Lesions.","authors":"Inés Segovia Rodríguez, Juan Vicente de la Sota, Alba Hernández Piriz, María Castillo Gutiérrez, Teresa López Bernal, Beatriz Aranegui Arteaga, Elena García Guijarro","doi":"10.12890/2025_005387","DOIUrl":"10.12890/2025_005387","url":null,"abstract":"<p><p>Still's disease is an inflammatory disorder of unknown origin, also known as juvenile idiopathic arthritis, that predominantly affects children, as it usually appears before the age of 16. However, there is another presentation known as adult-onset Still's disease, which has a bimodal distribution with the first peak of incidence between 16 and 25 years and the second peak between 36 and 46 years. Classically, it is described as a very typical clinical picture, mainly characterised by a transient salmon-coloured rash that appears with fever spikes, typically in the evening. Additionally, most patients frequently present with symptoms such as a sore throat, generalised lymphadenopathy and hepatosplenomegaly. Less common findings include myopericarditis, interstitial lung disease, serositis and neurological involvement. However, sometimes this disease can debut with more atypical signs and symptoms, delaying diagnosis and treatment. This article describes the case of a 56-year-old Spanish patient who presented with pruritic periorbital lesions resembling the heliotrope rash of dermatomyositis but was ultimately diagnosed with adult-onset Still's disease. This case is reported so that in the presence of such cutaneous lesions, Still's disease is considered within the differential diagnosis to avoid delays in both diagnosis and treatment.</p><p><strong>Learning points: </strong>In the early stages of adult-onset Still's disease, diagnosis can be challenging due to the lack of specific findings. In many cases, it is diagnosed by excluding other differential diagnoses.Cutaneous manifestations play a crucial role in correctly identifying the disease. The typical rash is a transient, salmon-coloured maculopapular eruption that coincides with fever spikes.However, atypical cutaneous manifestations such as dermatomyositis-like lesions, urticarial eruptions, persistent plaques, polymorphic erythema and lichenoid lesions, have been reported. These atypical skin findings may be associated with a more severe disease course, making early recognition essential for prompt diagnosis and treatment.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005387"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274505","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":"Achalasia-Associated Superior Mesenteric Artery Syndrome with Massive Gastric Dilatation.","authors":"Zaim Gashi, Leutrim Shabani, Endrit Shatrolli","doi":"10.12890/2025_005461","DOIUrl":"10.12890/2025_005461","url":null,"abstract":"<p><strong>Background: </strong>Achalasia and superior mesenteric artery (SMA) syndrome are both uncommon gastrointestinal disorders. When they occur together-a rare clinical scenario-they can cause serious complications, including severe gastric distension.</p><p><strong>Case presentation: </strong>We report the case of a 62-year-old man with a known history of achalasia, previously managed with botulinum toxin injections. He presented with progressively worsening abdominal bloating, unintentional weight loss, and abdominal discomfort. Endoscopy revealed a strikingly dilated oesophagus and stomach, filled with nearly 9 litres of fluid. Further imaging with computed tomography angiography showed a narrowed aortomesenteric angle measuring just 16.7°, consistent with a diagnosis of SMA syndrome. Remarkably, despite the massive distension, no perforation was identified.</p><p><strong>Discussion: </strong>This case highlights a rare but important overlap between achalasia and SMA syndrome, leading to extreme gastric dilatation in the absence of rupture. Despite the extreme degree of gastric dilatation observed on both endoscopy and imaging, the stomach wall remained intact, and there were no signs of ischemia or perforation. Although SMA syndrome may occur secondary to other health conditions, this case underscores how variable and potentially dangerous this dual pathology can be.</p><p><strong>Conclusion: </strong>Clinicians should remain vigilant for the possibility of SMA syndrome in patients with achalasia who develop new or worsening upper gastrointestinal symptoms, particularly if there is significant gastric dilatation. Early imaging and recognition can be crucial in preventing severe outcomes like perforation.</p><p><strong>Learning points: </strong>The patient has a very rare combination of achalasia and superior mesenteric artery syndrome, presenting with massive dilatation of the stomach with no perforation.Early detection through computed tomography angiography and early decompression are essential to prevent potentially fatal complications, including gastric rupture.This case adds to the limited literature describing achalasia-superior mesenteric artery overlap and reinforces the need for a high degree of clinical suspicion when symptoms diverge from baseline.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005461"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274503","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":"Rosai-Dorfman Disease Preceding Acute Myeloid Leukemia: An Extremely Rare Case and A Literature Review.","authors":"Sara E Marhoon, Ali H Ali, Ali Husain, Salma Elashwah, Azza AbdelAziz, Mariam Elias","doi":"10.12890/2025_005250","DOIUrl":"10.12890/2025_005250","url":null,"abstract":"<p><strong>Background: </strong>Rosai-Dorfman disease (RDD) is a histiocytic disorder that was recently reclassified as a histiocytic neoplasm. It is characterized by nodal and extranodal involvement. Leukaemia-associated RDD is a rare subtype of neoplasia-associated RDD, particularly when leukaemia precedes RDD, with only one paediatric case reported in the literature.</p><p><strong>Case report: </strong>A 33-year-old woman presented with cervical swelling that had persisted for one month. Ultrasound examination and biopsy confirmed the diagnosis of RDD. The patient subsequently developed raccoon eyes and bilateral eyelid oedema. Laboratory investigations revealed bicytopenia and leukocytosis. Unexpectedly, bone marrow aspirate and flow cytometry confirmed the presence of acute myeloid leukaemia (AML). Following repeated complaints of headache, brain magnetic resonance imaging revealed a callosal lesion, suggestive of a space-occupying lesion. One year later, the patient relapsed and died from septicaemia.</p><p><strong>Conclusion: </strong>This case report describes the progression of RDD to AML in an adult, highlighting the need for long-term follow-up and further research into its pathogenesis to improve outcomes.</p><p><strong>Learning points: </strong>The occurrence of Rosai-Dorfman disease (RDD) followed by acute myeloid leukaemia is extremely rare, suggesting more than a coincidental link and providing a foundation for research into RDD pathophysiology and prognosis.Physicians should be aware of the potential progression of RDD to malignancy, even after complete remission, and ensure thorough follow-up for early detection.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005250"},"PeriodicalIF":0.0,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274492","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":"Transverse Myelitis Successfully Treated with Posterior Decompression Followed by Secretome and Mesenchymal Stem Cell Therapy.","authors":"Ahmad Faried, Muhammad Adam Pribadi, Gibran Aditiara Wibawa, Muhammad Azhary Lazuardy, Muhammad Rainda Farhan","doi":"10.12890/2025_005391","DOIUrl":"10.12890/2025_005391","url":null,"abstract":"<p><strong>Introduction: </strong>Transverse myelitis (TM) is a rare spinal cord disorder caused by inflammation. Usually, this occurs as a complication of infection or autoimmune disease; however, idiopathic causes such as vaccinations have been reported. There have been no studies that include the use of stem cells for TM in an inpatient setting. We present a case demonstrating the efficacy of stem cell therapy in the treatment of TM.</p><p><strong>Case presentation: </strong>A 5-month-old boy developed TM (he abruptly developed paraplegia, paraesthesia of both legs, urinary retention) 7 days after he received the pneumococcal conjugate vaccine (PCV). Laboratory tests were all negative except for evidence of recent PCV vaccination. A paediatric neurologist confirmed the diagnosis when the boy was 2.5 years old. Magnetic resonance imaging of thoracic spine showed hyperintense central and dorsal cord abnormalities beginning at the T2 level and extending into the thoracic cord at T6. The pattern was consistent with TM. Decompression laminectomy was performed. The patient was then given mesenchymal stem cell (MSC)-derived secretome and umbilical cord mesenchymal stem cell (UCMSC) administered intrathecally (3× within interval 4 weeks). After the first, treatment he began to show significant improvement in terms of motor function and the patient also showed increasing in autonomic function especially in erectile function. After the 2^nd treatment there was adequate muscle response of the lower limbs, and his medical rehabilitation specialist trained him to do standing exercises. After the 3^rd treatment there was adequate muscle response of the lower limbs, and his medical rehabilitation specialist trained him to walk.To the best of our knowledge this is the first reported case of TM treated with stem cells in Indonesia. The pathophysiology of TM is an inflammatory disorder of the spinal cord that damages the myelin sheath of nerve fibres. Two primary therapies for TM are glucocorticoids and plasma exchange. Further, treatment options such as with secretome and UCMSCs promote both microenvironment correction and myelin regeneration.To the best of our knowledge our case is the first reported case of TM in Indonesia treated with stem cells.</p><p><strong>Conclusion: </strong>Our case demonstrates the potential of stem cell therapy as an alternative treatment modality in a case there was no other optional therapy for longitudinal extensive TM.</p><p><strong>Learning points: </strong>Alternative therapy with mesenchymal cell-derived secretome and umbilical cord mesenchymal stem cells is very effective for longitudinally extensive transverse myelitis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005391"},"PeriodicalIF":0.0,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274509","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":"Fistula Between the Left Anterior Descending Artery and the Pulmonary Trunk.","authors":"Paweł Święch, Przemysław Jaźwiec, Paweł Błaszkiewicz, Andrzej Bazan","doi":"10.12890/2025_005345","DOIUrl":"10.12890/2025_005345","url":null,"abstract":"<p><strong>Background: </strong>Coronary artery fistulas are usually asymptomatic anomalies diagnosed most often incidentally during conventional coronary angiography or computed tomography angiography (CTA) of the coronary arteries.</p><p><strong>Case report: </strong>We present the case of a 74-year-old woman with exertional dyspnoea, preserved left ventricular systolic function, no hemodynamically significant coronary artery stenosis, and a fistula between the anterior interventricular branch of the left anterior descending artery and the pulmonary trunk, identified by classic coronary angiography and CTA.</p><p><strong>Conclusion: </strong>The growing prevalence of CTA examination of the coronary arteries in recent years has increased the recognition of coronary fistulas. Early diagnosis and appropriate management are essential in symptomatic patients.</p><p><strong>Learning points: </strong>Coronary artery fistulas, though rare, should be considered in the differential diagnosis of unexplained exertional dyspnoea, especially in elderly patients with comorbidities.Angio-computed tomography scan is the most effective imaging modality for identifying coronary artery fistulas and assessing their hemodynamic significance.Early diagnosis and appropriate intervention can prevent complications such as coronary steal syndrome, heart failure, and pulmonary hypertension, highlighting the importance of multidisciplinary management. Early recognition of coronary steal syndrome is crucial in symptomatic patients with exertional dyspnoea and no significant coronary artery stenosis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005345"},"PeriodicalIF":0.0,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274470","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":"Acute Pericarditis in an Adult with Cystic Fibrosis: A Case Report and Literature Review.","authors":"Amer Abu-Shanab, Muhammad Tayyeb, Muhammad Saad Anwar, David Angelo Aquino, Pierre Amog, Abdalhakim Shubietah, Doantrang Du","doi":"10.12890/2025_005373","DOIUrl":"10.12890/2025_005373","url":null,"abstract":"<p><strong>Introduction: </strong>Cystic fibrosis, an autosomal recessive disorder (1 in 3,000-6,000 births), causes thick mucus and recurrent lung infections. Improved survival has revealed rare complications such as constrictive pericarditis and cardiac tamponade.</p><p><strong>Case description: </strong>A 24-year-old female with cystic fibrosis, diagnosed at nine months, presented with two weeks of dyspnoea. Examination revealed bilateral rhonchi, facial oedema and non-pitting thigh oedema. Laboratory results showed a white blood cell count of 11.3 ×10⁹/l, erythrocyte sedimentation rate of 99 mm/hr and C-reactive protein level of 45.3 mg/dl. Initially admitted for cystic fibrosis exacerbation, she was found to have pericardial effusion. Despite facial and lower extremity swelling, she denied cardiac symptoms. During hospitalisation, she developed haemodynamic instability requiring pericardiocentesis, with echocardiography confirming constrictive pericarditis. Chest computed tomography angiography showed pericardial calcifications; autoimmune workup was negative. She was discharged on colchicine with close follow-up.</p><p><strong>Conclusion: </strong>Clinicians should have a high index of suspicion for underlying cardiac complications in patients presenting with exacerbations of cystic fibrosis.</p><p><strong>Learning points: </strong>Pericardial disease - including constrictive pericarditis and tamponade - though rare, can complicate cystic fibrosis in adults and may mimic pulmonary exacerbations. Early cardiac imaging is crucial for timely diagnosis.This case highlights the need for a high index of suspicion in cystic fibrosis patients with unexplained dyspnoea, oedema or haemodynamic instability, especially in the setting of pericardial calcifications.Medical management with colchicine and diuretics can be effective in selected cystic fibrosis patients with constrictive physiology, potentially avoiding the need for invasive pericardiectomy.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005373"},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274504","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":"High-Folate-Low-Vitamin B12 Interaction Syndrome.","authors":"Claudia Cicchini, Antonio De Magistris, Alberto Del Sasso, Donatella Livoli, Francesco Rocco Pugliese","doi":"10.12890/2025_005398","DOIUrl":"10.12890/2025_005398","url":null,"abstract":"<p><strong>Introduction: </strong>Vitamin B12 deficiency is characterised by haematological and neurological complications, from mild symptoms (e.g. fatigue and paraesthesia), to severe symptoms (e.g. pancytopenia and combined degeneration of the spinal cord). If treatment is delayed, irreversible neurological damage may occur. Thus, early recognition and prompt corrective therapy are essential. The vitamin B12 deficiency can be due to a variety of anomalies: the paradoxical interaction between folic acid and vitamin B12 has recently been well described.</p><p><strong>Case description: </strong>We report the case of a patient who presented to the emergency department with balance disorders and a blood count indicating macrocytosis. Vitamin B12 deficiency and a high folate value were detected, supporting the hypothesis of the high-folate-low-vitamin B12 interaction as a cause of vitamin B12 depletion.</p><p><strong>Discussion: </strong>An excessive oral intake of folic acid leads to a reduction in the active fraction of vitamin B12 and this decrease exacerbates the deficiency itself. The neurological signs and symptoms of vitamin B12 deficiency are due to demyelination of the posterior and lateral columns of the spinal cord. This patient had been taking folic acid for 30 years and the serum folate value was high. We hypothesise that the high-folate-low-vitamin B12 interaction represents the cause of vitamin B12 depletion in this patient.</p><p><strong>Conclusion: </strong>All the patients with neurological signs and symptoms should be tested for possible vitamin B12 deficiency: early diagnosis and treatment could stop the progression of the disease and allow the regression of the neurological deficit. It is important not to rely on blood count values to diagnose a vitamin B12 deficiency as the neurological and haematological outlook may be inversely proportional. This study is the first to report a case of combined sclerosis and high-folate-low-vitamin B12 interaction from Italy and is therefore of interest to public health decision makers and clinical practice.</p><p><strong>Learning points: </strong>Vitamin B12 and folate should be measured in all patients with neurological symptoms.In case of vitamin B12 deficiency, folate levels should always be measured as well.Vitamin blood levels should be checked periodically while taking vitamin supplements.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005398"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274472","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":"ANCA-Positive Pulmonary Granulomatosis in A HER2-Positive Breast Cancer Patient on ANTI-HER2 Therapy: Case Report and Literature Review.","authors":"Florian Collard Vanthournhout, Myriam Remmelink, Laura Polastro, Maxime Ilzkovitz","doi":"10.12890/2025_005349","DOIUrl":"10.12890/2025_005349","url":null,"abstract":"<p><strong>Introduction: </strong>This case highlights the diagnostic complexity of pulmonary granulomatosis in oncology patients, especially when treated with targeted therapy.</p><p><strong>Case report: </strong>We report the case of a 46-year-old female with metastatic HER2-mutated breast cancer who had received multiple lines of HER2-targeted therapies. The patient presented with suspected lung and mediastinal lymph node progression, despite a good response at other affected sites. A lymph node biopsy revealed non-necrotizing pulmonary granulomas, with negative microbiological testing. Further evaluations showed highly elevated anti-PR3 autoantibodies, while angiotensin-converting enzyme (ACE) and calcium levels remained within the normal range. Pulmonary function tests confirmed a restrictive syndrome. Nasal fibroscopy identified chronic sinusitis with massive nasal polyposis, without renal or cutaneous involvement. High-dose corticosteroid therapy was initiated, leading to a favourable response. Based on the clinical presentation, radiological findings, and pathological features, we concluded that the granulomatosis was related to HER2-targeted therapy.</p><p><strong>Conclusion: </strong>This case highlights that both an underlying malignancy and specific drugs-such as HER2-targeted therapy-can occasionally contribute to granuloma formation.</p><p><strong>Learning points: </strong>Differentiating pulmonary granulomatosis is challenging in oncology patients.HER2-targeted therapies can induce non-necrotizing lung granulomatosis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 6","pages":"005349"},"PeriodicalIF":0.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274507","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}