BMJ Case ReportsPub Date : 2026-10-05DOI: 10.1136/bcr-2026-275498
Bradley Loudon, Michael Joubert, David Owen-Conway, Shihaz Hussain, Trent Grundy, Montri Gururatsakul
{"title":"Gastrointestinal manifestations of IgA vasculitis guiding treatment in an adult patient.","authors":"Bradley Loudon, Michael Joubert, David Owen-Conway, Shihaz Hussain, Trent Grundy, Montri Gururatsakul","doi":"10.1136/bcr-2026-275498","DOIUrl":"https://doi.org/10.1136/bcr-2026-275498","url":null,"abstract":"<p><p>IgA vasculitis (IgAV), a small-vessel systemic vasculitis characterised by arthritis, renal involvement and palpable purpura without thrombocytopenia, predominantly affects children and is rare in adults. Immunosuppressive treatment is typically reserved for significant renal involvement or refractory abdominal and joint pain. However, therapeutic targets for gastrointestinal involvement remain poorly defined. A man in his 20s with no medical history presented with weeks of abdominal pain, post-prandial vomiting, purpuric rash, arthralgia and hypertension. Urine studies showed subnephrotic range proteinuria and colonoscopy revealed ileal ulceration. Immunofluorescence of skin, ileal and renal biopsies demonstrated perivascular IgA deposition, confirming IgAV. Although renal involvement did not necessitate treatment, recurrent severe gastrointestinal symptoms and biochemical evidence of liver involvement prompted a 6-week course of oral prednisone following multidisciplinary consultation. His symptoms resolved, with complete normalisation of renal function and liver enzymes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2026-10-05DOI: 10.1136/bcr-2026-275641
Takeshi Takasaki, Meri Watanabe, Yuta Kawahara, Toshikatsu Kaburaki
{"title":"Uveitis despite adalimumab therapy in Blau syndrome.","authors":"Takeshi Takasaki, Meri Watanabe, Yuta Kawahara, Toshikatsu Kaburaki","doi":"10.1136/bcr-2026-275641","DOIUrl":"https://doi.org/10.1136/bcr-2026-275641","url":null,"abstract":"<p><p>Blau syndrome is a rare granulomatous autoinflammatory disease caused by NOD2 mutations and characterised by dermatitis, arthritis and uveitis. We report a middle childhood boy initially diagnosed with oligoarticular juvenile idiopathic arthritis (JIA) because arthritis was the predominant early manifestation. He had papular skin lesions in infancy and periarticular swelling and tenosynovial cysts, later developed persistent arthritis and recurrent fever. Genetic testing identified a heterozygous NOD2 variant (c.1001G>A, p.Arg334Gln [R334Q]), confirming Blau syndrome. Despite ongoing methotrexate and adalimumab therapy, routine ophthalmic examination revealed unilateral anterior uveitis with iris nodules. Fundus examination showed bilateral multifocal chorioretinal lesions, and fluorescein angiography demonstrated retinal vasculitis. Ocular inflammation became quiescent after topical corticosteroid treatment and weight-based escalation of adalimumab. This case highlights that Blau syndrome may masquerade as JIA and that regular ophthalmic surveillance remains essential even during biologic therapy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Peritoneal loose body: an incidental finding, a challenging diagnosis and multimodal assessment to avoid resections.","authors":"Aniruddha Janardan Yadav, Imran Shaikh, Vishakha Priya Sinha, Prakash Lakhmichand Tejwani, Rahul Hiramani Pandey","doi":"10.1136/bcr-2025-271157","DOIUrl":"https://doi.org/10.1136/bcr-2025-271157","url":null,"abstract":"<p><p>A man in his early 40s presented with urinary symptoms and was diagnosed with a right ureteric calculus, hydronephrosis and urinary tract infection. A non-contrast CT scan of the kidneys, ureters and bladder revealed an incidental pelvic mass in the rectovesical pouch, initially suspected as a gastrointestinal stromal tumour/fibroma. Multidisciplinary management prioritised cystoscopy-guided double-J stenting for obstruction and infection. In a second admission, ureteroscopic lithotripsy with stenting and a laparoscopic low anterior resection were planned simultaneously. Following ureteroscopic lithotripsy, diagnostic laparoscopy identified a large peritoneal loose body (PLB), which was retrieved laparoscopically, avoiding resection. Peritoneal loose bodies are extremely rare, benign entities prone to misdiagnosis as malignancy on imaging, leading to unnecessary major surgery and psychological distress. This case highlights the pathogenesis, clinical features, differential diagnoses and characteristic imaging findings of PLB, emphasising the value of preoperative recognition and diagnostic laparoscopy to prevent unnecessary major surgery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Refractory amiodarone-induced thyrotoxicosis causing malignant arrhythmias, treated with therapeutic plasma exchange-bridged thyroidectomy.","authors":"Bisma Nazir, Myint Aye, Yasir Ihsan, Imran Mehdi Haidry, Inamullah Khan","doi":"10.1136/bcr-2026-274623","DOIUrl":"10.1136/bcr-2026-274623","url":null,"abstract":"<p><p>Amiodarone-induced thyrotoxicosis (AIT) is a potentially life-threatening complication of amiodarone therapy, particularly hazardous in patients with underlying structural heart disease. We report the case of a man in his mid-60s with severe cardiomyopathy and recurrent ventricular tachycardia who developed refractory thyrotoxicosis following amiodarone exposure. Overlapping features of type 1 and 2 AIT suggested mixed-type disease, posing a significant diagnostic challenge. Despite aggressive conventional therapy with high-dose thionamides and glucocorticoids, supplemented by adjunctive agents, including lithium and cholestyramine, thyrotoxicosis remained refractory and life-threatening arrhythmias persisted. Given the high cardiac risk and refractory disease course, total thyroidectomy was undertaken as definitive management; therapeutic plasma exchange was used as bridging therapy to achieve rapid biochemical improvement and minimise perioperative risk. This case highlights the complexity of managing severe, treatment-refractory AIT and underscores the value of multidisciplinary care and plasmapheresis as a bridging strategy prior to definitive surgical management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104283","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}
BMJ Case ReportsPub Date : 2026-10-05DOI: 10.1136/bcr-2026-276148
Mikaela Mandato, David Cruise, Jayani Jayasekara, Philip Townend
{"title":"Incidental discovery of a massive primary retroperitoneal serous cystadenoma following trauma.","authors":"Mikaela Mandato, David Cruise, Jayani Jayasekara, Philip Townend","doi":"10.1136/bcr-2026-276148","DOIUrl":"10.1136/bcr-2026-276148","url":null,"abstract":"<p><p>A woman in her 70s presented with severe abdominal pain following a mechanical fall. A CT of the abdomen revealed a massive cystic lesion with evidence of rupture, while MRI localised the lesion to the left retroperitoneum; however, its aetiology remained unclear. She underwent laparotomy with extensive adhesiolysis and excision of a large multiloculated retroperitoneal cyst containing approximately 6500 mL of serous and haemorrhagic fluid. Histopathological examination demonstrated a benign serous cystadenoma lined by ciliated serous epithelium with tubal metaplasia and no evidence of atypia. This case highlights the diagnostic challenges associated with primary retroperitoneal serous cystadenomas and emphasises the importance of surgical excision and histopathological assessment for definitive diagnosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cutaneous leukocytoclastic vasculitis with concurrent colitis of uncertain aetiology.","authors":"Vanessa Pei Xian Yaw, Mohamed Korani, Rakibul Anowar, Syed Mujtaba Hasnain Nadir","doi":"10.1136/bcr-2024-264024","DOIUrl":"https://doi.org/10.1136/bcr-2024-264024","url":null,"abstract":"<p><p>This case presents a female in her 20s with biopsy-confirmed cutaneous leukocytoclastic vasculitis (LCV) and significant gastrointestinal (GI) symptoms, manifesting as recurrent rectal bleeding, abdominal pain and maculopapular rash. The patient's symptoms emerged shortly after treatment with phenoxymethylpenicillin for tonsillitis. Investigations revealed left-sided colitis with distinctive endoscopic findings. Skin biopsy confirmed cutaneous LCV; however, colonic biopsies demonstrated non-specific inflammation without histological evidence of vasculitis. Therefore, GI vasculitic involvement could not be confirmed. Negative autoimmune serology excluded primary autoimmune disorders. Following treatment with prednisolone and mesalazine, the patient's symptoms resolved and she showed sustained improvement. While clinical improvement occurred after corticosteroid therapy, this response is non-specific and does not confirm GI vasculitis. Given the absence of vasculitic features on GI histology, the relationship between cutaneous LCV and colitis in this case remains associative rather than proven. This case underscores the importance of diagnostic caution when extracutaneous manifestations are suspected in LCV.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2026-10-05DOI: 10.1136/bcr-2026-273327
Sri Vaishnavi Satakshi Challa, Amirtha Kuberan, Usha Rani Godla
{"title":"Navigating the unexpected: management of incidental severe Factor V deficiency in term pregnancy.","authors":"Sri Vaishnavi Satakshi Challa, Amirtha Kuberan, Usha Rani Godla","doi":"10.1136/bcr-2026-273327","DOIUrl":"https://doi.org/10.1136/bcr-2026-273327","url":null,"abstract":"<p><p>Severe Factor V deficiency (parahaemophilia) is a rare autosomal recessive coagulation disorder with a highly variable clinical phenotype. We report the incidental detection of isolated severe Factor V deficiency (<1% activity) in a completely asymptomatic primigravida during routine preoperative evaluation prior to an elective caesarean section. Despite marked prolongation of prothrombin time and activated partial thromboplastin time, the patient had no prior bleeding history. Mixing studies and a normal thrombin time localised the defect to the common pathway, which was confirmed by factor assay. Management involved multidisciplinary planning, peri-operative fresh frozen plasma transfusion and avoidance of neuraxial anaesthesia. The patient underwent caesarean section under general anaesthesia and delivered a healthy neonate without maternal or neonatal complications. This case highlights the poor correlation between plasma Factor V levels and bleeding phenotype and underscores the diagnostic value of thrombin time in evaluating common pathway coagulation defects.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multisystem imaging findings as diagnostic red herrings in Wilson's disease.","authors":"Lujain Hassan, Esther Sleigh, Alisha Giby, Shaies Zahoor Chat, Nadeem Tehami","doi":"10.1136/bcr-2026-274381","DOIUrl":"10.1136/bcr-2026-274381","url":null,"abstract":"<p><p>A previously well man in his 20s presented with fever, cough, new-onset jaundice and a right-sided pleural effusion. Initial investigations demonstrated marked hepatic synthetic dysfunction. Subsequent imaging demonstrated cirrhotic liver morphology with splenomegaly and ascites. Additional findings of gallbladder wall oedema and focal colonic wall thickening broadened the differentials but following specialist radiology review, these abnormalities were recognised as manifestations of portal hypertension rather than separate disease processes.Further investigations confirmed Wilson's disease including Kayser-Fleischer rings, low serum caeruloplasmin, MRI brain consistent with Wilson's disease, copper deposition on liver biopsy and confirmatory <i>ATP7B</i> genetic testing. Following multidisciplinary discussion, penicillamine therapy was commenced with subsequent clinical and biochemical improvement.This case highlights the importance of interpreting radiological findings alongside the clinical presentation and biochemical context, recognising portal hypertension as a unifying explanation for multisystem imaging abnormalities and considering Wilson's disease in young adults presenting with otherwise unexplained hepatic synthetic dysfunction.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2026-10-05DOI: 10.1136/bcr-2026-273456
Janvi Dave, Bhavna H Dave, Seema Dinesh Bargale, Vaishnavi Patil
{"title":"Comprehensive dental management of odontogenic infection and ankyloglossia under general anaesthesia in a medically complex child with intellectual disability.","authors":"Janvi Dave, Bhavna H Dave, Seema Dinesh Bargale, Vaishnavi Patil","doi":"10.1136/bcr-2026-273456","DOIUrl":"https://doi.org/10.1136/bcr-2026-273456","url":null,"abstract":"<p><p>Children with intellectual disability often experience difficulties in accessing routine dental care because behavioural limitations and associated medical conditions make treatment challenging. Untreated dental infections in such patients may pose significant health risks, particularly when systemic conditions are present. A child in middle childhood with moderate intellectual disability presented with pain and progressive swelling in the right posterior mandibular region. The patient was non-verbal and had underlying cardiac dysfunction and encephalopathy, which further complicated clinical management. Clinical and radiographic examination revealed a grossly carious mandibular first permanent molar associated with a periapical cyst, along with severe ankyloglossia. Due to limited cooperation and medical complexity, comprehensive dental management was performed under general anaesthesia, including extraction, cyst enucleation, diode laser-assisted frenectomy and preventive care. Recovery was uneventful, and the patient was referred for speech therapy. This case highlights the importance of coordinated multidisciplinary management for medically complex children requiring comprehensive dental rehabilitation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fatal drug-induced liver injury in the setting of abemaciclib therapy for metastatic breast cancer.","authors":"Ranjini Vengilote, Syed Usman Ehsanullah, Mehul Patel","doi":"10.1136/bcr-2025-268777","DOIUrl":"https://doi.org/10.1136/bcr-2025-268777","url":null,"abstract":"<p><p>Abemaciclib, a cyclin-dependent kinase 4/6 inhibitor (CDK4/6i) for oestrogen receptor-positive (ER+) and human epidermal growth factor receptor 2-negative (HER2-) breast cancer can rarely cause severe liver injury. We report a fatal case of abemaciclib-induced mixed hepatocellular-cholestatic injury progressing to liver failure. A Hispanic woman in her mid-60s with metastatic ER+/HER2- breast cancer developed progressive hepatocellular-cholestatic injury 1 month after starting abemaciclib with letrozole. She presented with jaundice, pruritus and dark urine. Labs showed markedly elevated bilirubin, liver enzymes and alkaline phosphatase. Liver biopsy revealed portal inflammation, bile duct injury, cholestasis and steatosis. Extensive work-up excluded other causes. Despite initial fall in transaminases with drug withdrawal and high-dose steroids, her condition progressed with rising bilirubin and worsening coagulopathy signalling progressive loss of hepatic synthetic function suggestive of impending liver failure and death. In clinical trial, any-grade transaminase elevation occurs in 14%-15% of patients receiving abemaciclib, with grade 3 hepatotoxicity in 2.9%-4.8%. In a retrospective cohort of patients receiving abemaciclib plus endocrine therapy, 29% (15/52) developed abemaciclib-induced liver injury (AILI), with age ≥65 years, fatty liver disease and concomitant aromatase inhibitor use identified as risk factors. Educating patients to recognise early symptoms of liver injury is essential for prompt detection and management of AILI. This case highlights the need for patient education, close liver monitoring, early cessation of abemaciclib and consideration of genetic risk factors in high-risk patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}