Anara Abbay, Talgat Ibrayev, Murat Mukarov, Sandugash Talkhatova, Muradym Murzagaliyev
{"title":"First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome.","authors":"Anara Abbay, Talgat Ibrayev, Murat Mukarov, Sandugash Talkhatova, Muradym Murzagaliyev","doi":"10.12890/2026_006137","DOIUrl":"https://doi.org/10.12890/2026_006137","url":null,"abstract":"<p><p>Aortopathy encompasses a spectrum of aortic aneurysms and dissections and represents a major cause of cardiovascular morbidity during pregnancy, particularly in women with heritable connective tissue disorders such as Marfan syndrome. Evidence guiding the management of severe aortopathy diagnosed in early pregnancy remains limited. We report the case of a pregnant woman with previously undiagnosed Marfan syndrome who presented at 10 weeks' gestation with decompensated heart failure due to severe aortic regurgitation and a massive aortic root aneurysm. Transthoracic echocardiography revealed marked dilatation of the aortic root and ascending aorta, accompanied by left ventricular dilatation and systolic dysfunction. Following multidisciplinary evaluation, urgent surgical intervention was deemed necessary because of prohibitive maternal risk. The patient successfully underwent aortic root and valve replacement during the first trimester. Postoperatively, cardiac function improved, and the pregnancy was continued without major cardiovascular complications, ultimately resulting in the delivery of a healthy neonate. This case highlights the complexity of managing severe Marfan-associated aortopathy diagnosed during early pregnancy and demonstrates that life-saving aortic surgery may be considered in carefully selected patients when maternal risk is extreme, emphasizing the importance of individualized, multidisciplinary decision-making.</p><p><strong>Learning points: </strong>Pregnancy may unmask previously undiagnosed Marfan syndrome and carries a high risk of life-threatening aortic complications.Current guidelines recommend pre-pregnancy surgery when the aortic root diameter reaches ≥4.5 cm; however, management of severe aortopathy detected during pregnancy remains challenging and individualized.In carefully selected high-risk patients, severe aortic root aneurysm complicated by heart failure may necessitate life-saving aortic surgery even during the first trimester, guided by multidisciplinary decision-making and European Society of Cardiology recommendations.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 4","pages":"006137"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688998","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}
Mohammed Y Youssef, Isabella Bortolussi, Mohamed H Eldesouki, Hafsa Khan, Asim Usman, Jaison John
{"title":"Endoscopic Salvage of Colonic Obstruction Caused by an Unidentified Fibrous Foreign Body.","authors":"Mohammed Y Youssef, Isabella Bortolussi, Mohamed H Eldesouki, Hafsa Khan, Asim Usman, Jaison John","doi":"10.12890/2026_006297","DOIUrl":"https://doi.org/10.12890/2026_006297","url":null,"abstract":"<p><strong>Introduction: </strong>There is a large variety of intestinal foreign bodies, including sex toys, produce, and glass, and management depends on the object's composition and location. We present a case of a fibrous foreign body causing complete colonic obstruction that was successfully treated using a novel balloon-assisted technique.</p><p><strong>Case description: </strong>A 30-year-old woman with no significant medical history presented with abdominal pain, constipation, nausea, and vomiting. Computed tomography (CT) imaging demonstrated a large faecal burden in the proximal colon with mucosal thickening and obstruction from a presumed fixed mass in the left colon. Colonoscopy revealed a foreign body completely occluding the descending colon lumen. Initial removal attempts using nets, snares, and grasping devices were unsuccessful, and surgery was consulted for possible hemicolectomy. In a final effort to avoid surgery, a 20 mm through-the-scope balloon dilator was advanced blindly through the fibrous obstruction. The balloon was inflated and retracted toward the colonoscope to fragment and sweep debris. Repeated passes removed substantial fibrous material. Mineral oil lavage was administered to lubricate the lumen and facilitate debris passage. The patient subsequently received 2 litres of polyethylene glycol. Repeat CT imaging showed near-complete resolution of obstruction. Pathology demonstrated acellular fibrous material with inflammatory cells.</p><p><strong>Discussion: </strong>Foreign body ingestion is common, yet refractory colonic impactions lack standardized management. This case demonstrates that balloon-assisted sweeping with adjunctive lavage can provide a safe, surgery-sparing alternative for complex colonic foreign body obstruction.</p><p><strong>Learning points: </strong>Introduces a practical, surgery-sparing endoscopic strategy combining balloon sweeping and lubrication to successfully relieve a complete colonic obstruction after failure of conventional retrieval tools.Provides internists with an actionable escalation pathway for refractory large bowel foreign body impactions, potentially preventing hemicolectomy and reducing morbidity in otherwise stable patients.<b>Highlights a strategic multi-modal treatment algorithm</b> the work showcases a comprehensive management approach-combining mechanical fragmentation, chemical lubrication with mineral oil, and post-procedural osmotic laxatives-to resolve high-grade colonic obstructions safely and completely.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 4","pages":"006297"},"PeriodicalIF":0.0,"publicationDate":"2026-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688940","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}
Khaled Sewify, Donia Elmasry, Ahmad Aboutaleb, Ahmad Abualsaud, Abdelaziz Alshaer, Hani Hosny, Ahmed Sewify
{"title":"Sequential Extracorporeal Organ Support in Refractory Septic Shock: A Novel Combo Approach with Complete Recovery: A Case Report and Literature Review.","authors":"Khaled Sewify, Donia Elmasry, Ahmad Aboutaleb, Ahmad Abualsaud, Abdelaziz Alshaer, Hani Hosny, Ahmed Sewify","doi":"10.12890/2026_005968","DOIUrl":"https://doi.org/10.12890/2026_005968","url":null,"abstract":"<p><strong>Introduction: </strong>Refractory septic shock and multiple organ dysfunction syndrome (MODS) remain a critical challenge in intensive care because they are associated with high morbidity and mortality despite advanced care.</p><p><strong>Case description: </strong>This case report describes the successful management of a 74-year-old female patient admitted with coronavirus disease 2019 (COVID-19) infection complicated by severe acute respiratory distress syndrome, refractory septic shock and MODS, including acute kidney injury and gastrointestinal bleeding. The patient received three sequential interventions, including continuous renal replacement therapy with the Oxiris hemofilter (Baxter International Inc, Deerfield, IL, USA) for cytokine/endotoxin removal, integrated extracorporeal CO<sub>2</sub> removal (ECCO<sub>2</sub>R) via a single vascular access, and adjunctive IgM/IgA-enriched intravenous immunoglobulin therapy. The combined interventions resulted in a 74% reduction in C-reactive protein (325 → 85 mg/l), a 92% reduction in procalcitonin (28.3 → 2.3 ng/ml), normalization of hypercapnia (PCO<sub>2</sub> 107 → 48 mmHg) within 24h, and successful vasopressor discontinuation within 12 days. The patient recovered completely without any sequelae.</p><p><strong>Conclusion: </strong>This case report demonstrates how coordinated extracorporeal organ support can produce beneficial effects in patients with refractory septic shock. The combined treatment provided renal, respiratory, and immunologic support through minimal vascular access and warrants further investigation in controlled trials.</p><p><strong>Learning points: </strong><b>Oxiris hemofilter rapidly improved haemodynamics</b> Initiation of Oxiris-enhanced continuous renal replacement therapy (CRRT) was associated with a 40% reduction in norepinephrine requirement within 48 hours and a marked decline in inflammatory markers (C-reactive protein, CRP 325 → 188 mg/l; procalcitonin, PCT 28.3 → 9.1 ng/ml).<i>Integrated Oxiris/ECCO</i> <sub>2</sub> <i>R rescued severe hypercapnic failure:</i> During rebound crisis (PCO<sub>2</sub> 107 mmHg; pH 7.01), integrated extracorporeal CO<sub>2</sub> removal (ECCO<sub>2</sub>R) via the CRRT circuit enabled lung-protective ventilation and normalized PCO<sub>2</sub> to ~45-50 mmHg within 24 hours.<b>Adjunctive IgM/IgA-enriched immunoglobulin supported recovery</b>Adding IV IgM/IgA-enriched immunoglobulin (5 ml/kg/day for 5 days) during rebound hyperinflammation was associated with further biomarker reduction (CRP 305 → 85 mg/l; PCT 15.8 → 2.3 ng/ml) and complete vasopressor discontinuation by day 12, suggesting potential synergy of sequential multi-targeted support.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 4","pages":"005968"},"PeriodicalIF":0.0,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688416","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":"Management of Rapidly Progressive Symptomatic Splenomegaly with Associated Pancytopenia: A Rare Case of Splenic Hamartoma.","authors":"Dimitra Taprantzi, Irene Terzi, Dimitrios Velissaris, Evgenia Verigou, Nikolaos Mpenetatos, Charalampos Potsios","doi":"10.12890/2026_006241","DOIUrl":"https://doi.org/10.12890/2026_006241","url":null,"abstract":"<p><strong>Introduction: </strong>Splenomegaly with focal splenic lesions represents a complex diagnostic entity, encompassing a broad spectrum of haematological, infectious, autoimmune, infiltrative and malignant disorders. Distinguishing benign from malignant pathology is particularly challenging when splenomegaly is accompanied by cytopenias and a rapidly progressive clinical course.</p><p><strong>Case description: </strong>A 43-year-old woman presented with severe left upper quadrant abdominal pain and persistent vomiting. Physical examination revealed splenomegaly, and laboratory investigations showed pancytopenia. Abdominal ultrasonography, computed tomography scan and magnetic resonance imaging demonstrated a large heterogeneous splenic mass with progressive enlargement and mass effect on adjacent organs. <sup>18</sup>F-fluorodeoxyglucose positron emission tomography scan showed no abnormal metabolic activity. Extensive laboratory evaluation and image-guided biopsy failed to establish a definitive diagnosis. Despite conservative management, the patient's clinical condition progressively deteriorated, with persistent symptoms and worsening hypersplenism. Owing to the ongoing diagnostic uncertainty and clinical deterioration, splenectomy was performed for both diagnostic and therapeutic purposes. Histopathological examination confirmed the diagnosis of splenic hamartoma.</p><p><strong>Conclusion: </strong>This case highlights the limitations of non-invasive diagnostic modalities in the evaluation of large splenic masses and underscores the importance of considering rare benign entities in the differential diagnosis of clinically aggressive splenic pathology. In carefully selected patients with progressive symptoms and inconclusive investigations, splenectomy remains a valuable strategy to achieve diagnostic clarity and symptom control.</p><p><strong>Learning points: </strong>Splenomegaly associated with focal splenic lesions and pancytopenia poses a major diagnostic challenge due to substantial overlap between benign and malignant conditions.In symptomatic patients with progressive clinical deterioration and persistent diagnostic uncertainty, splenectomy can be both diagnostic and therapeutic.Splenic hamartomas are rare benign lesions that may present with non-specific symptoms and features of hypersplenism.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 4","pages":"006241"},"PeriodicalIF":0.0,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688931","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}
Fatemeh Akbarpoor, Rand Al Bawwab, Meera Alshehhi, Zainulabideen Ahmed, Ahmed Amrou, Ishma Aijazi
{"title":"Erratum: [Erratum] A Rare Case of Empyema Necessitans due to Streptococcus Anginosus with Necrotizing Fasciitis and Retroperitoneal Abscesses.","authors":"Fatemeh Akbarpoor, Rand Al Bawwab, Meera Alshehhi, Zainulabideen Ahmed, Ahmed Amrou, Ishma Aijazi","doi":"10.12890/2023_006467","DOIUrl":"10.12890/2023_006467","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.12890/2026_006065.].</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 3","pages":"006467"},"PeriodicalIF":0.0,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12971049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147431464","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":"Zoledronic Acid-Induced Orbital Inflammation: A Diagnostic Challenge.","authors":"Tala Nasrini, Adam Bacon, Sharma Umesh","doi":"10.12890/2026_005784","DOIUrl":"https://doi.org/10.12890/2026_005784","url":null,"abstract":"<p><strong>Introduction: </strong>Zoledronic acid is a bisphosphonate widely used for osteoporosis and other bone disorders. In rare cases, it can cause ocular inflammation mimicking orbital cellulitis.</p><p><strong>Case description: </strong>A 52-year-old woman developed right eye pain and swelling within 24 hours of her first zoledronic acid infusion. Examination revealed conjunctival redness and mild eyelid swelling without proptosis, ophthalmoplegia, or vision loss. Laboratory markers were largely normal. Computed tomography scan and magnetic resonance imaging showed preseptal and postseptal inflammation without abscess formation. Treatment with corticosteroids and antibiotics resulted in complete symptom resolution within one week.</p><p><strong>Conclusion: </strong>Zoledronic acid can induce rapid-onset orbital inflammation. Awareness of this rare adverse effect is essential to avoid misdiagnosis and ensure timely treatment.</p><p><strong>Learning points: </strong>Bisphosphonate ocular toxicity may mimic common eye conditions but often resists standard treatment; clinicians should consider drug-induced causes in refractory cases.Temporal association with bisphosphonate therapy is crucial for diagnosis; rapid onset after infusion can indicate drug-induced orbital inflammation.Early corticosteroid therapy typically leads to full recovery, highlighting the importance of prompt recognition and management.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 4","pages":"005784"},"PeriodicalIF":0.0,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688549","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}
Patrik Lecký, Martin Jozef Péč, Matej Turčan, Zuzana Miertová, Boris Focko, Peter Galajda, Marián Mokáň
{"title":"Autoimmune Polyglandular Syndrome Type II Presenting with Severe Hyponatraemia and Autoimmune Bicytopaenia.","authors":"Patrik Lecký, Martin Jozef Péč, Matej Turčan, Zuzana Miertová, Boris Focko, Peter Galajda, Marián Mokáň","doi":"10.12890/2026_006147","DOIUrl":"https://doi.org/10.12890/2026_006147","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune polyglandular syndrome type II (APS II) is a rare, multifactorial disorder characterised by a combination of primary adrenal insufficiency with other autoimmune endocrinopathies, most commonly thyroid disease and type 1 diabetes mellitus. The clinical presentation is variable, and non-specific symptoms often lead to delayed diagnosis.</p><p><strong>Case description: </strong>We report the case of a 37-year-old female patient with a history of Graves-Basedow thyroid disease status post total thyroidectomy, admitted for dyspeptic symptoms, vomiting and severe hyponatraemia (112 mmol/l). Endocrinological evaluation revealed hypercortisolism with elevated adrenocorticotropic hormone (ACTH), reduced insulin, C-peptide and dehydroepiandrosterone sulfate (DHEAS) levels, and adrenal atrophy on MRI. Serological tests demonstrated IgA deficiency and positive anti-dsDNA antibodies of the IgM class. Additionally, the patient presented with bicytopaenia associated with autoimmune neutropaenia and detectable anti-granulocyte and anti-lymphocyte antibodies. The patient was diagnosed with APS II and started on hydrocortisone and fludrocortisone replacement therapy, resulting in subsequent clinical stabilisation.</p><p><strong>Conclusion: </strong>In this case, Addison's disease represented the first clinical manifestation of APS II and presented with severe hyponatraemia. A rare aspect of this case was the presence of bicytopaenia with autoimmune neutropaenia, which is not a typical feature of APS II and thus expands its phenotypic spectrum. This case highlights the importance of early recognition of endocrine causes of severe hyponatraemia and demonstrates that APS II can also manifest with rare haematologic complications. Long-term follow-up is essential due to the risk of progression or the development of additional autoimmune disorders.</p><p><strong>Learning points: </strong>Severe hypotonic hyponatraemia can be the dominant presenting feature of primary adrenal insufficiency; therefore, adrenal insufficiency should be actively considered in the differential diagnosis of profound hyponatraemia, especially when accompanied by gastrointestinal symptoms and volume depletion.Autoimmune polyglandular syndrome type II may rarely be associated with autoimmune cytopaenias (including neutropaenia); detection of anti-granulocyte/anti-lymphocyte antibodies and selective IgA deficiency should prompt haematologic and immunologic follow-up for evolving or additional autoimmune manifestations.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 4","pages":"006147"},"PeriodicalIF":0.0,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688971","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":"The Use of Bovine Serum Albumin and Zephyr Endobronchial Valves for Managing a Bronchial-Biliary Fistula: A Novel Approach.","authors":"Hussein Rabah, Houssein Youness, Awais Bajwa, Fawad Chaudry","doi":"10.12890/2026_005801","DOIUrl":"https://doi.org/10.12890/2026_005801","url":null,"abstract":"<p><strong>Introduction: </strong>A bronchobiliary fistula (BBF) is a rare pathological communication between the biliary tract and the bronchial tree. It is most often associated with hepatic tumours, infections or trauma. The diagnosis can be challenging; management strategies vary and include conservative, surgical and endoscopic approaches.</p><p><strong>Case description: </strong>A 61-year-old woman with metastatic colorectal cancer to the liver -managed with hepatic resections and ablation - presented with progressive dyspnoea and a productive cough. She had a recent history of pyogenic liver abscess treated with antibiotics. A computed tomography (CT) scan revealed a persistent hepatic abscess with a fistulous tract to the right middle lobe. Bronchoscopy confirmed bilious secretions from the right middle lobe. Initial management with endobronchial BioGlue application resulted in temporary improvement; however, recurrence occurred within eight days. A bronchoscopy was then repeated with additional BioGlue applied, and a 5.5 Zephyr endobronchial valve was deployed into the right middle lobe. The proximal orifice of the valve was sealed with BioGlue to ensure occlusion. This combined approach resulted in improved oxygenation and cessation of air leak from the biliary drain. Despite successful fistula closure, the patient succumbed to candida fungemia.</p><p><strong>Conclusion: </strong>BBF remains a challenging condition with no standardised management guidelines. This case represents the first reported use of BioGlue<sup>®</sup> in combination with a Zephyr<sup>®</sup> endobronchial valve for successful endobronchial closure of a bronchobiliary fistula. Our experience highlights the potential of innovative bronchoscopy interventions as minimally invasive alternatives to surgery in select patients.</p><p><strong>Learning points: </strong>The differential diagnosis of pneumonia in patients with hepatic malignancy and/or abscess should include bronchobiliary fistula.BioGlue<sup>®</sup> and Zephyr<sup>®</sup> valves are an option for treating bronchobiliary fistulas.Innovative bronchoscopy therapy is an option for treating bronchobiliary fistulas.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 3","pages":"005801"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12971035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147431625","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}
Nele Carton, Nilüfer Aylin Acet Öztürk, Mine Özşen, Özge Aydın-Güçlü, Ahmet Ursavaş
{"title":"When Erdheim-Chester Disease Reaches the Pectoral Muscle.","authors":"Nele Carton, Nilüfer Aylin Acet Öztürk, Mine Özşen, Özge Aydın-Güçlü, Ahmet Ursavaş","doi":"10.12890/2026_006217","DOIUrl":"https://doi.org/10.12890/2026_006217","url":null,"abstract":"<p><p>Erdheim-Chester disease (ECD) is a rare histiocytic disorder. The underlying etiology has not yet been fully elucidated. Recent technological and molecular advances have identified aberrant activation of the MAPK/ERK signalling pathway as a central driver of disease, leading to its reclassification as a neoplastic entity rather than solely a multisystem fibroinflammatory condition. These insights have significantly advanced the understanding of disease pathogenesis and are fundamental to the development and implementation of targeted therapeutic strategies. We describe a case of KRAS-mutant ECD with pleural, pericardial, diaphragmatic, and pectoral muscle involvement in a patient with a prior hematologic history. The disease was refractory to corticosteroid therapy, prompting escalation to second-line treatment with a MEK inhibitor.</p><p><strong>Learning points: </strong>This case underscores the clinical heterogeneity of Erdheim-Chester disease. The disease can affect virtually any organ system, although skeletal muscle involvement remains exceedingly rare.The present case highlights the critical role of comprehensive whole-body imaging and the acquisition of multiple tissue biopsies from different affected sites to establish an early and definitive diagnosis.Molecular profiling is essential to identify alterations in the MAPK/ERK signalling pathway, as this enables the use of targeted therapies that are associated with substantial improvements in clinical outcomes and overall survival.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 3","pages":"006217"},"PeriodicalIF":0.0,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12971033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147431605","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}
Coana Sukmagautama, Christopher William Purnomo, Kenneth Tan, Alya Amelia, Alifa El Husna
{"title":"Disseminated Visceral Varicella Presenting as Gastric Ulcers.","authors":"Coana Sukmagautama, Christopher William Purnomo, Kenneth Tan, Alya Amelia, Alifa El Husna","doi":"10.12890/2026_006229","DOIUrl":"https://doi.org/10.12890/2026_006229","url":null,"abstract":"<p><strong>Introduction: </strong>Herpes zoster results from reactivation of varicella-zoster virus (VZV) and classically presents with a dermatomal vesicular rash. Disseminated or visceral involvement is uncommon and predominantly occurs in immunosuppressed individuals. Gastrointestinal manifestations, such as oesophageal or gastric ulceration, are rare and can lead to diagnostic delay due to their non-specific presentation.</p><p><strong>Case description: </strong>We report the case of 70-year-old man presenting with progressive dysphagia and weight loss over four weeks. The symptoms were preceded by dermatomal facial vesicular lesions consistent with herpes zoster, followed by the appearance of non-dermatomal cutaneous lesions. The patient had underlying type 2 diabetes mellitus and was geriatric, constituting functional immunosuppression. Upper gastrointestinal endoscopy revealed multiple ulcerations in the oesophagus and gastric antrum. Histopathology examination demonstrated viral cytopathic changes compatible with VZV infection, supporting a diagnosis of disseminated visceral varicella. Due to limited antiviral availability, the patient was managed with supportive therapy, systemic corticosteroids and symptomatic treatment, resulting in significant clinical improvement and resolution of dysphagia.</p><p><strong>Conclusion: </strong>This case highlights disseminated visceral varicella as an important but under-recognised cause of gastrointestinal ulcerations in immunosuppressed elderly patients. Establishing standardised reporting criteria would allow for more persistent comparison and analysis of this rare manifestation of varicella infection.</p><p><strong>Learning points: </strong>Disseminated varicella-zoster virus infection may involve the gastrointestinal tract and present as dysphagia or gastric ulcers in immunosuppressed patients.Elderly patients with diabetes mellitus are at increased risk for atypical and visceral manifestations of varicella-zoster virus, and increased risk of atypical or visceral varicella-zoster manifestations when gastrointestinal symptoms accompany recent or evolving skin lesions.While antiviral therapy is generally recommended for disseminated or visceral varicella-zoster infection, clinical improvement may occur with supportive care in selected cases. Nonetheless, close monitoring is mandatory and antivirals should be promptly initiated if clinical worsening is observed.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 3","pages":"006229"},"PeriodicalIF":0.0,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12971034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147431520","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}