European journal of case reports in internal medicine最新文献

{"title":"Isolated Rectal Wall Necrosis Presenting with Septic Shock: A Rare Manifestation of Non-Occlusive Ischaemia.","authors":"Liza Loce, Timurs Salimbajevs","doi":"10.12890/2026_006620","DOIUrl":"10.12890/2026_006620","url":null,"abstract":"<p><strong>Introduction: </strong>Acute rectal ischaemia is an exceptionally rare but life-threatening condition because the rectum is usually protected by its rich collateral blood supply. Isolated rectal wall necrosis is particularly uncommon and may present a major diagnostic challenge, especially in critically ill patients.</p><p><strong>Case description: </strong>A 45-year-old male presented with a three-day history of progressive diffuse abdominal pain and profound haemodynamic instability. On admission, he was hypotensive (70/50 mmHg) and showed signs of generalised peritonitis. Laboratory investigations revealed leukopenia and acute kidney injury. Computed tomography demonstrated free intraperitoneal air, most prominent along the anterior rectal wall, with suspected perforation below the peritoneal reflection and intramural gas extending above it, along with the presence of free intraperitoneal fluid. An emergency laparotomy revealed faecal peritonitis and extensive transmural necrosis of the anterior rectal wall with perforation in the mid-rectum below the peritoneal reflection. Necrosis extended to and involved the peritoneal reflection and rectovesical pouch, without evidence of malignancy, diverticular disease or mechanical obstruction. A low Hartmann's procedure was performed. Postoperatively, the patient required intensive care and vasopressor support but gradually improved. Bowel continuity was later restored, with satisfactory functional recovery.</p><p><strong>Conclusion: </strong>This case demonstrates that isolated rectal wall necrosis secondary to non-occlusive ischaemic injury may progress to perforation, faecal peritonitis and septic shock, even in the absence of classical local predisposing factors. Early recognition and prompt source control are essential for survival.</p><p><strong>Learning points: </strong>Isolated rectal ischaemia is exceptionally rare but should be considered in critically ill patients presenting with abdominal pain, septic shock and signs of peritonitis or bowel perforation.Non-occlusive mesenteric ischaemia may involve even well-perfused segments such as the rectum, as mesenteric vasoconstriction leads to severe splanchnic hypoperfusion and rapid progression to transmural necrosis and perforation.In haemodynamically unstable patients, CT findings may underestimate the extent of ischaemic bowel injury; early recognition and prompt source control are crucial for survival.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006620"},"PeriodicalIF":0.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210647","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":"Hospital-Acquired Kluyvera Georgiana Bacteremia in a Patient with Decompensated Cirrhosis: A Case Report from Vietnam and a Literature Review.","authors":"Quoc Phuong Nguyen, Thi Lien Ha Nguyen","doi":"10.12890/2026_006682","DOIUrl":"10.12890/2026_006682","url":null,"abstract":"<p><p>Bacteraemia caused by <i>Kluyvera georgiana</i> is an exceedingly rare clinical entity. As of 2024, only one case had been reported in the world literature: a 67-year-old female patient with recurrent pancreatic cancer undergoing chemotherapy in Japan, in whom the portal of entry for the pathogen was the biliary tract following choledochojejunotomy. We report the second case worldwide and the first from Vietnam, occurring in a 34-year-old male with decompensated cryptogenic cirrhosis. On hospital day 10, the patient developed high-grade fever (39.5°C) with rigors. Two independent blood culture sets drawn from two separate peripheral venous sites both yielded <i>K. georgiana</i>, identified by matrix-assisted laser desorption/ionization time of flight mass spectrometry. Notably, the patient exhibited leukopenia (1.710 cells/μl) with only minimally elevated procalcitonin (0.08 ng/ml), reflecting a blunted inflammatory response characteristic of cirrhosis-associated immune dysfunction. Antimicrobial susceptibility testing demonstrated resistance to ampicillin-sulbactam, ciprofloxacin, cefotaxime, ceftazidime, and trimethoprim-sulfamethoxazole, a substantially broader resistance phenotype than reported in the first case. The patient was treated with intravenous imipenem/cilastatin for 14 days and achieved complete clinical recovery. This case expands the recognized at-risk population for <i>K. georgiana</i> bacteraemia to include patients with decompensated cirrhosis, underscores the critical diagnostic value of early blood cultures when inflammatory markers are unreliable, and highlights the necessity of comprehensive antimicrobial susceptibility testing given the potentially variable resistance phenotypes among <i>K. georgiana</i> strains.</p><p><strong>Learning points: </strong><i>Kluyvera georgiana</i> bacteraemia can occur in patients with decompensated cirrhosis via gut bacterial translocation, expanding the recognized at-risk population beyond oncologic or chemotherapy-immunosuppressed hosts.Conventional sepsis biomarkers are unreliable in cirrhosis-associated immune dysfunction attenuates both leukocyte and procalcitonin responses. Blood cultures must be drawn whenever clinical suspicion arises, regardless of inflammatory marker values.Antimicrobial susceptibility of <i>K. georgiana</i> is unpredictable. Resistance profiles may vary substantially between strains, mandating comprehensive susceptibility testing and precluding empirical de-escalation based on historical data.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006682"},"PeriodicalIF":0.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927243","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 Unusual Syndromic Presentation in Diabetes: Histiocytosis-Lymphadenopathy Plus Syndrome.","authors":"Hanae Rachedi, Khawla Rhouzali, Yousra Laalaoua, Nisrine Bouichrat, Siham Rouf, Hanane Latrech","doi":"10.12890/2026_006206","DOIUrl":"10.12890/2026_006206","url":null,"abstract":"<p><strong>Introduction: </strong>Histiocytosis-lymphadenopathy plus syndrome is a rare autosomal recessive multisystemic disorder caused by mutations in the <i>SLC29A3</i> gene, which encodes the nucleoside transporter hENT3. This mutation has been linked to a group of syndromic histiocytoses including H-syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and familial Rosai-Dorfman disease.</p><p><strong>Case description: </strong>We report the case of an 18-year-old woman from an Arab country with no parental consanguinity who presented to our department with uncontrolled diabetes, repeated severe hypoglycaemic episodes, short stature and delayed puberty. Her history included exocrine pancreatic insufficiency, marked skin hyperpigmentation with thickening of the lower limbs, skeletal deformities, chronic anaemia, impacted teeth and a constellation of findings strongly evocative of H-syndrome. In addition, she presented with multiple deep lymphadenopathies.</p><p><strong>Discussion: </strong>This case reflects the variable expression of H-syndrome. We report, for the first time, dental inclusion as a possible additional feature of this syndrome. The patient presented with a severe systemic form involving multiple organs, including pancreatic insufficiency, diabetes with persistent glycaemic instability despite multiple daily insulin injections and close monitoring, delayed puberty requiring initiation of transdermal oestradiol therapy, and dermatological manifestations poorly responsive to topical treatments. These findings underscore both the heterogeneity of clinical presentation and the challenges in managing H-syndrome.</p><p><strong>Conclusion: </strong>With fewer than 100 cases described worldwide, histiocytosis-lymphadenopathy plus syndrome remains vastly underdiagnosed. This case highlights the importance of recognising its characteristic clinical features and aims to raise awareness among clinicians, encouraging them to consider uncommon diagnoses when faced with unusual combinations of dermatological, endocrine and skeletal signs.</p><p><strong>Learning points: </strong>Histiocytosis-lymphadenopathy plus syndrome is a rare autosomal recessive multisystem disorder caused by <i>SLC29A3</i> mutations.Diagnosis relies on clinical, histopathological and genetic findings, and should be considered in patients with atypical combinations of cutaneous, endocrine and skeletal features.Multisystem involvement is associated with increased morbidity.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 6","pages":"006206"},"PeriodicalIF":0.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13245688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210774","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":"GLP-1 Receptor Agonist Associated Unmasking of Insulinoma.","authors":"Eden Simonov, Rina Berger, Olga Shishkina, Alexander Sivokha, Dror Cantrell","doi":"10.12890/2026_006552","DOIUrl":"10.12890/2026_006552","url":null,"abstract":"<p><strong>Background: </strong>Insulinoma is a rare functional pancreatic neuroendocrine tumour and the most common cause of endogenous hyperinsulinaemic hypoglycaemia in adults. Diagnosis is frequently delayed due to non-specific and intermittent symptoms, and a high index of suspicion is needed.</p><p><strong>Case description: </strong>We report the case of a 40-year-old non-diabetic woman who presented with recurrent episodes of weakness shortly after initiation of a glucagon-like peptide-1 receptor agonist (GLP-1RA). Laboratory evaluation demonstrated inappropriately elevated insulin and C-peptide levels during documented hypoglycaemic events, consistent with endogenous hyperinsulinaemia. Autoimmune and exogenous causes were excluded. Imaging studies identified a 2 cm hypervascular pancreatic lesion, with functional imaging confirming somatostatin receptor avidity consistent with an insulin-secreting tumour. The patient was initially treated with diazoxide as a bridge to definitive management. She subsequently underwent laparoscopic distal pancreatectomy, with histopathology confirming a well-differentiated pancreatic neuroendocrine tumour (WHO Grade 1). Following surgery, hypoglycaemia resolved completely.</p><p><strong>Conclusion: </strong>This case highlights the potential of GLP-1 receptor agonist therapy to unmask an insulinoma. Many benign insulinomas exhibit abundant expression of GLP-1 receptors. While a high index of suspicion remains essential, awareness of the emerging association between the incretin-based therapies and unexplained hypoglycaemia may facilitate earlier diagnosis.</p><p><strong>Learning points: </strong>Hypoglycaemia is a rare but significant clinical event, and thorough evaluation is mandatory.Widely used GLP-1RA medications are glucose-dependent and therefore rarely cause hypoglycaemia; occurrence should prompt clinical suspicion for an underlying cause.Benign insulinomas express high levels of GLP-1 receptors; consequently, GLP-1 RAs may induce otherwise unexplained hypoglycaemia and can be used as tracers to localise difficult to detect tumours.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006552"},"PeriodicalIF":0.0,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927826","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":"Folate Deficiency-Induced Pseudo-Thrombotic Microangiopathy.","authors":"Adrien Allemand, Remy Favre, François Dhelft, Nicholas Sedillot","doi":"10.12890/2026_006493","DOIUrl":"10.12890/2026_006493","url":null,"abstract":"<p><p>Pseudo-thrombotic microangiopathy is commonly linked with cyanocobalamin (vitamin B12) deficiency, but its association with folate deficiency is rare. This report details a case involving a 60-year-old man with a background of chronic alcohol use who presented with pancytopenia and schistocytes on his blood smear. Bone marrow aspiration showed erythroblastic hyperplasia with megaloblastic changes indicative of folate deficiency. Both cyanocobalamin and methylmalonic acid levels were normal, and there was no evidence of thrombotic thrombocytopenic purpura. Notably, the patient's haemoglobin and platelet counts improved after folate supplementation.</p><p><strong>Learning points: </strong>Pseudo-thrombotic microangiopathy related to folate deficiency is extremely rare and is defined by the presence of non-immune haemolytic anaemia, thrombocytopenia, and schistocytes observed in peripheral blood smears.The pathophysiology of pseudo-thrombotic microangiopathy associated with folate deficiency remains incompletely understood. Folate deficiency elevates homocysteine levels, which in turn cause endothelial dysfunction and activate platelets, thereby promoting micro thrombosis and intravascular haemolysis. Additionally, homocysteine has been suggested to act as a haemolytic toxin by generating free radicals within erythrocytes, potentially leading to intramedullary haemolysis.This case demonstrates that although the clinical presentation of folate deficiency-induced pseudo-thrombotic microangiopathy can be severe and may occasionally necessitate intensive care admission, prompt improvement was achieved following folate supplementation.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006493"},"PeriodicalIF":0.0,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927856","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":"Marked Eosinophilia in <i>Giardia Lamblia</i> Infection.","authors":"Filippo Schoolkate, Marten Trendelenburg","doi":"10.12890/2026_006635","DOIUrl":"10.12890/2026_006635","url":null,"abstract":"<p><strong>Introduction: </strong>Eosinophilia, defined as an absolute eosinophil count >500 cells/μl, is most commonly secondary to allergic diseases, infections, or drug reactions. While parasitic helminth infections are a well-recognized cause, protozoal infections are less frequently associated. Reports linking <i>Giardia lamblia</i> infection with eosinophilia remain rare, in particular in the context of severe eosinophilia.</p><p><strong>Case description: </strong>A 77-year-old woman presented with acute watery diarrhoea for 3 days without systemic symptoms. Laboratory evaluation revealed marked eosinophilia (4.5 g/l at initial presentation, which rose to 7.9 g/l). The initial diagnostic workup, including stool polymerase chain reaction for bacterial and viral pathogens, helminth serologies, celiac screening, and abdominal imaging, was all negative. However, endoscopic evaluation with biopsies demonstrated mild eosinophilic gastrointestinal infiltration, and stool antigen testing was positive for <i>Giardia lamblia</i>. No other cause of eosinophilia could be identified. Treatment with metronidazole resulted in rapid clinical improvement and progressive reduction of eosinophil counts, with complete normalization during follow-up. Additional investigations only revealed mild hepatopathy, most likely related to statin therapy.</p><p><strong>Conclusion: </strong>This case highlights <i>Giardia lamblia</i> as a potential cause of marked secondary eosinophilia and thus may have to be considered as a differential diagnosis in patients presenting with unexplained severe eosinophilia and gastrointestinal symptoms.</p><p><strong>Learning points: </strong><i>Giardia lamblia</i> as a possible cause of severe eosinophilia.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006635"},"PeriodicalIF":0.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927560","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":"Severe Hypocalcaemia with Elevated PTH and Normal Vitamin D: A Diagnostic Pitfall due to Chronic Negative Calcium Balance in a Vegan Patient.","authors":"Manuel Serrano Quero","doi":"10.12890/2026_006604","DOIUrl":"10.12890/2026_006604","url":null,"abstract":"<p><strong>Introduction: </strong>Secondary hyperparathyroidism is usually associated with chronic kidney disease or vitamin D deficiency.</p><p><strong>Case description: </strong>A 62-year-old man with severe osteoporosis presented with persistent hypocalcaemia and markedly elevated parathyroid hormone levels. Renal function, phosphate and vitamin D levels were normal. Extensive investigations excluded common causes. Twenty-four-hour urinary calcium excretion was profoundly reduced, indicating a chronic negative calcium balance. Dietary assessment revealed a strict vegan diet with low calcium intake and reduced bioavailability. Treatment with calcium citrate and calcitriol normalised serum calcium and reduced PTH levels.</p><p><strong>Conclusion: </strong>A chronic negative calcium balance is an under-recognised cause of secondary hyperparathyroidism. Measurement of urinary calcium is a key diagnostic tool in these patients.</p><p><strong>Learning points: </strong>Secondary hyperparathyroidism may occur despite normal vitamin D and phosphate levels.Very low urinary calcium excretion is a key diagnostic clue in hypocalcaemia with elevated parathyroid hormone.A chronic negative calcium balance should be considered in patients with restrictive diets such as veganism.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006604"},"PeriodicalIF":0.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927695","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":"Whipple's Disease Complicated by Severe Pulmonary Hypertension and Right Ventricular Failure.","authors":"Marwan Joma, Abdulrahman M Karam, Bisher Sawaf, Wasef Sayeh, Waqar Khan, Fadi Safi, Yaseen Alastal","doi":"10.12890/2026_006600","DOIUrl":"10.12890/2026_006600","url":null,"abstract":"<p><p>Whipple's disease is a rare, chronic systemic infection caused by <i>Tropheryma whipplei</i> that commonly presents with gastrointestinal manifestations but may involve multiple extraintestinal organs. Cardiac involvement, particularly culture-negative endocarditis, is described; however, pulmonary complications such as pulmonary hypertension (PH) are uncommon. We report a case of Whipple's disease presenting with severe pre-capillary pulmonary hypertension and right ventricular (RV) failure with reversibility following antimicrobial therapy. A 62-year-old woman with seropositive rheumatoid arthritis on adalimumab, presented with one month of profuse watery diarrhoea, abdominal pain, dizziness and weakness. Imaging revealed diffuse mesenteric and para-aortic lymphadenopathy. Upper endoscopy demonstrated oedematous whitish granular villi in the duodenum, and biopsies showed periodic acid-Schiff-positive, acid-fast bacillus-negative foamy macrophages diagnostic of Whipple's disease. Transthoracic echocardiography revealed RV dilation and dysfunction with pulmonary hypertension, which was confirmed on right heart catheterisation as severe pre-capillary PH with elevated pulmonary vascular resistance and normal wedge pressure. The patient developed RV-predominant cardiogenic shock requiring inotropic and vasopressor support. Following initiation of intravenous ceftriaxone her haemodynamics improved rapidly, with normalisation of cardiac output and marked reduction in pulmonary pressures on repeat catheterisation. Gastrointestinal symptoms resolved, immunosuppressive therapy was discontinued, and she was discharged on prolonged antimicrobial therapy. This case underscores PH as a rare but potentially reversible manifestation of Whipple's disease. Recognition of this entity is critical, as PH-specific vasodilator therapy alone is often ineffective, whereas early targeted antimicrobial treatment can result in rapid and profound clinical and haemodynamic recovery, even in cases presenting with severe RV failure.</p><p><strong>Learning points: </strong>Whipple's disease should be considered in the differential diagnosis of otherwise unexplained pre-capillary pulmonary hypertension, particularly when accompanied by chronic diarrhoea, arthralgia or systemic features.Unlike idiopathic pulmonary arterial hypertension, Whipple's disease-associated pulmonary hypertension is often driven by a reversible inflammatory process and may present with severe right ventricular failure and haemodynamic compromise.Recognition of this rare entity is critical, as pulmonary hypertension-specific vasodilator therapy alone is frequently insufficient, whereas timely initiation of targeted antimicrobial treatment can result in rapid and profound clinical and haemodynamic recovery.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006600"},"PeriodicalIF":0.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927731","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 Parvovirus B19 Infection Associated with Multi-Organ Involvement in an Immunocompetent Adult.","authors":"Akshaye Gopaul, Rosana-Bristena Ionescu, Varun George","doi":"10.12890/2026_006616","DOIUrl":"10.12890/2026_006616","url":null,"abstract":"<p><strong>Introduction: </strong>Human parvovirus B19 is a highly prevalent single-stranded deoxyribonucleic acid virus that infects a large proportion of the global population. It can involve multiple organ systems, leading to a broad spectrum of clinical manifestations. While most infections in immunocompetent individuals are mild and self-limiting, parvovirus B19 can occasionally cause severe and diverse complications.</p><p><strong>Case description: </strong>We present a case of a 44-year-old, immunocompetent woman, who presented acutely with a severe acute inflammatory response associated with hepatomegaly, oedema, and cardiac and renal involvement. Early suspicion of atypical infections including parvovirus B19 was considered given the multi-organ involvement and non-specific aetiology. Parvovirus B19 infection was confirmed alongside the development of the typical rash seen in acute infection and the patient improved with supportive therapy with full resolution.</p><p><strong>Conclusion: </strong>This case underscores the potential severity of parvovirus B19 infection. Early testing and a high index of suspicion is required to accurately diagnoses these patients and may improve clinical outcomes whilst the mainstay of management is supportive. A potential underlying pathophysiology is suggested in acute parvovirus B19 infection with multi-organ involvement highlighting the link between infection and cytokine-driven inflammation and endothelial dysfunction.</p><p><strong>Learning points: </strong>Early testing for parvovirus B19 should be considered in immunocompetent adults with features of acute hepatitis of unknown aetiology, especially when there is early haematological and joint involvement.In patients with acute infection with parvovirus B19, cytokine-driven inflammation and endothelial dysfunction can result in extremis and multi-organ involvement.Supportive treatment and close monitoring is the mainstay of treatment for patients identified and early escalation to intensive care may be required.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006616"},"PeriodicalIF":0.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927867","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":"Novel Phenotype due to <i>KCNJ11</i> Pathogenic Variant Associated with Maturity-Onset Diabetes of the Young-KCNJ-11.","authors":"Michiel Reunes, Imke Matthys, Tim Van Damme","doi":"10.12890/2026_006130","DOIUrl":"10.12890/2026_006130","url":null,"abstract":"<p><strong>Introduction: </strong>Maturity-onset diabetes of the young (MODY) <i>KCNJ11</i> is caused by pathogenic variants in the KATP channel of the pancreatic β-cell leading to altered insulin secretion. Bi-allelic loss-of-function variants lead to neonatal diabetes mellitus (DM) whereas heterozygous gain-of-function variants lead to congenital hyperinsulinism. Heterozygous loss-of-function variants, however, are suggested to cause a bimodal pattern with hyperinsulinaemic hypoglycaemia in early life (with an often-mild presentation) and progressing to glucose intolerance in early adulthood.</p><p><strong>Case description: </strong>We describe three family members with early-onset DM (or glucose intolerance) without clear features of type 1 or type 2 DM. A heterozygous likely pathogenic missense variant c.119G>A (p.(Gly40Asp)) was found in an autosomal dominant pattern. This variant was previously only linked to cases of congenital hyperinsulinism and had been described as likely pathogenic or pathogenic in patients with type 2 DM.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first report linking the c.119G>A KCNJ11 variant to a clinical context of MODY. We have no evidence in our patients of clinically significant hypoglycaemia at young age. However, we still hypothesise - congruent with the latest evidence - that there might be a bimodal pattern in individuals with this variant. This report adds to the clinical and genetic heterogenicity of MODY and illustrates the complexity of early diagnosis of MODY.</p><p><strong>Learning points: </strong>We describe another clinical phenotype, namely diabetes mellitus, associated with a pathogenic variant in the <i>KCNJ11</i> gene that was previously only linked to congenital hyperinsulinism.An initial non-specific genetic variant for MODY always warrants an extensive clinical work-up, a thorough family history and segregation of the variant in family members.This case highlights the heterogeneous presentation of pathogenic variants in MODY genes.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"13 5","pages":"006130"},"PeriodicalIF":0.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13166999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927651","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}