Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic [0.03%]
外显子组测序可助力门诊早期神经发育障碍诊断
Casaundra Gutowski,Molly Lombard,Evangeline Kurtz-Nelson et al.
Casaundra Gutowski et al.
The American College of Medical Genetics and Genomics (ACMG) and other professional organisations recommend whole exome sequencing (WES) as a first-tier genetic test for paediatric patients with congenital anomalies, developmental delay and...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e269337. DOI:10.1136/bcr-2025-269337 2026
Occult cryptococcal meningitis presenting as myelopathy from an arachnoid cyst [0.03%]
隐源性新型隐球菌脑膜炎伴发脑脊液环蛛网膜囊肿所致脊髓病一场疑难病例的探讨
Sebastian Leon,Aryaa N Karkare,Jacob Gluski et al.
Sebastian Leon et al.
An immunocompromised patient presented with acute-on-chronic back pain following minor trauma. The pain was accompanied by worsening right-sided weakness, paraesthesias, progressive gait impairment and hyperreflexia concerning for compressi...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e268720. DOI:10.1136/bcr-2025-268720 2026
Unusual presentation of vaginal ring pessary incarceration in a young patient [0.03%]
年轻患者阴道环楔剂异常嵌顿病例报告
Sudwita Sinha,Mukta Agarwal,Upasna Sinha et al.
Sudwita Sinha et al.
Vaginal pessaries are a simple and effective conservative treatment for pelvic organ prolapse. However, neglected devices can result in rare but serious complications, including incarceration and fistula formation. A woman in her early 30s ...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e270293. DOI:10.1136/bcr-2025-270293 2026
Alyssa Galloway,Nicole Cumbo,Xiu Sun et al.
Alyssa Galloway et al.
A woman in her 30s with a history of three caesarean sections was referred to gynaecology oncology for evaluation of abnormal uterine bleeding and a painful anterior abdominal wall mass located at the site of her previous caesarean scar. Th...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e268827. DOI:10.1136/bcr-2025-268827 2026
Severe autoimmune hepatitis and necrotising pancreatitis following ofatumumab in a patient with multiple sclerosis [0.03%]
一名多发性硬化症患者接受奥法木单抗治疗后出现严重自身免疫性肝炎和坏死性胰腺炎
Ahmed Dahshan,Ossama ElSayed Abouelkhir,Mohammed Essam Badawy et al.
Ahmed Dahshan et al.
We report the case of a male patient in his 30s with newly diagnosed multiple sclerosis who initially responded well to high-dose corticosteroids and was started on ofatumumab as disease-modifying therapy. Baseline laboratory investigations...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e269312. DOI:10.1136/bcr-2025-269312 2026
Behçet-like intestinal disease in a patient with trisomy 8-associated myelodysplastic syndrome (TRIAD) [0.03%]
与TRIAD相关的贝赫切特样肠病病例报告
Angel Sona,Vishnu S Chandran
Angel Sona
A woman in her late 60s from South India presented with a year-long history of recurrent oral and genital ulcers, abdominal pain and low-grade fever. Evaluation showed ileocaecal ulcers, cytopenias and Trisomy 8-positive myelodysplastic syn...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e269045. DOI:10.1136/bcr-2025-269045 2026
Immune-modulating medications: the masquerading culprit of epididymo-orchitis [0.03%]
免疫调节药物导致附睾炎及睾丸炎的原因分析
David S Buchinsky,Hari M Polenakovik,Jonathan I Hakim
David S Buchinsky
Immune checkpoint inhibitors (ICI) have revolutionised pharmacological chemotherapy for various malignant neoplasms. The side effects of ICIs are still being fully understood. We present a case of a male patient in his mid-50s with a histor...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e267699. DOI:10.1136/bcr-2025-267699 2026
Incidentally detected multifocal calcifying fibrous tumour of the pleura: a diagnostic enigma [0.03%]
偶然发现的多发性胸膜钙化纤维瘤：一个诊断难题
Anchal Jain,Mark McCole,Dionisios Stavroulias et al.
Anchal Jain et al.
Calcifying fibrous tumour of the pleura (CFTP) is a rare, benign soft tissue neoplasm with uncertain aetiology. To our knowledge, only 36 cases (including this case) have been reported in English literature. A man in his early 30s presented...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e270908. DOI:10.1136/bcr-2025-270908 2026
Hypertensive crisis due to secondary aldosteronism from polyarteritis nodosa [0.03%]
结节性多动脉炎继发二级醛固酮增多症所致高血压急症
Yongkang Liu,Joanna Y Gong,Lochlan Michael Sydenham-Clarke et al.
Yongkang Liu et al.
Primary aldosteronism is common in those diagnosed with hypertension and distinguishing primary aldosteronism from its mimics allows tailored management. A woman in her 30s presented to an Australian hospital with hypertensive crisis (209/1...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e269055. DOI:10.1136/bcr-2025-269055 2026
John Keenan Fanning,Andrew Austin Bowerman Barnes,Fraser Betley et al.
John Keenan Fanning et al.
Dual anti-platelet therapy remains a cornerstone of the treatment for coronary artery disease. When choosing a second anti-platelet, ticagrelor remains a principal agent after the recent PLATO trial showed its superiority in reducing the in...
Case Reports
BMJ case reports. 2026 Jan 12;19(1):e266221. DOI:10.1136/bcr-2025-266221 2026