Bardet-Biedl syndrome presenting with early-onset infantile obesity [0.03%]
以早发性婴儿型肥胖为表现的巴尔德-毕德尔综合征病例报告
Patlolla Akhila,Jyothi Naik,Thirunavukkarasu Arun Babu
Patlolla Akhila
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder. Polydactyly, obesity, pigmentary retinal degeneration, intellectual disability, kidney abnormalities and hypogonadism are common features. We report an infant who ...
Case Reports
BMJ case reports. 2026 Jan 29;19(1):e268160. DOI:10.1136/bcr-2025-268160 2026
Corneal scarring in neonate following glycopyrrolate therapy: the importance of escalating ocular lubrication [0.03%]
glycopyrrolate治疗的新生儿角膜瘢痕：增加眼部润滑的重要性
Syed Husain,Lucy Miller,Arthi Lakshmanan et al.
Syed Husain et al.
Synovial chondromatosis of the peroneal tendon sheath presenting as a painless ankle swelling: Diagnostic challenge with atypical radiographic findings [0.03%]
外踝肿胩的滑膜软骨瘤病：具有非典型影像学表现的诊断难题
Ranjeet Choudhary,Reetika Sharma,Anirudh Dwajan et al.
Ranjeet Choudhary et al.
A man in his 30s presented with a progressively enlarging swelling over the lateral aspect of his right ankle for 8 months. The swelling was insidious in onset, gradually progressive and notably painless. Examination revealed a 6×4 cm lobu...
Case Reports
BMJ case reports. 2026 Jan 29;19(1):e269551. DOI:10.1136/bcr-2025-269551 2026
Failure to thrive and respiratory distress in an infant due to a congenital type IV hiatus hernia [0.03%]
先天性第四型食管裂孔疝导致的婴儿发育不良和呼吸困难
Ghodke Sanyukta Sandeep,Rajakumar Padur Sivaraman,Easwaraprasad Selvianandi Akshara et al.
Ghodke Sanyukta Sandeep et al.
Preserving renal function in Ochoa syndrome: augmentation cystoplasty in an adolescent with neurogenic bladder [0.03%]
奥乔亚综合征的肾功能保护：青少年神经源性膀胱扩增术
Dayan Jacob,Sumathi Gelli,Pragnitha Chitteti et al.
Dayan Jacob et al.
Ochoa syndrome, or urofacial syndrome, is a rare autosomal recessive disorder combining bladder dysfunction and abnormal facial expressions. We present the case of a teenager with genetically confirmed Ochoa syndrome and high-pressure, poor...
Case Reports
BMJ case reports. 2026 Jan 29;19(1):e268507. DOI:10.1136/bcr-2025-268507 2026
Catarina Tavares,Helena Pereira,Patricia Horta et al.
Catarina Tavares et al.
Systemic sarcoidosis in a TB-endemic region: diagnostic role of linear endobronchial ultrasound mediastinal lymph node cryobiopsy and stepwise management approach [0.03%]
结核高发区系统性泡状肺瘤的诊断和分步治疗方案：气管内超声纵隔淋巴结冷冻活检的作用
Sze Kye Teoh,Ching Bing Jordan Hoo,Noor Afidah Abdullah et al.
Sze Kye Teoh et al.
Sarcoidosis is a multisystem granulomatous disease that can mimic tuberculosis (TB) or lymphoma, particularly in endemic regions. We report a man in his late 50s with chronic cough, weight loss and systemic features whose CT showed mediasti...
Case Reports
BMJ case reports. 2026 Jan 29;19(1):e270697. DOI:10.1136/bcr-2025-270697 2026
Poorly differentiated non-small cell lung carcinoma presenting as a fever of unknown origin [0.03%]
以长期发热待查表现为首发症状的低分化非小细胞肺癌一例
Brandon Boyarsky,Caroline Cox,Sarah Boutwell
Brandon Boyarsky
To achieve a definitive diagnosis of a fever of unknown origin (FUO), clinicians must consider infectious, autoimmune, neoplastic and other pathologies. While thorough history taking is crucial, it may not reveal the underlying aetiology be...
Case Reports
BMJ case reports. 2026 Jan 29;19(1):e270547. DOI:10.1136/bcr-2025-270547 2026
Use of intravenous immunoglobulin in combination with corticosteroids for immune checkpoint inhibitor pneumonitis [0.03%]
免疫检查点抑制剂肺炎联合使用静脉注射免疫球蛋白和皮质类固醇治疗
Neha Puttagunta,Saman Suleman,Divija Sharma et al.
Neha Puttagunta et al.
Immune checkpoint inhibitor (ICI) pneumonitis is a potentially life-threatening immune-related adverse event associated with ICI therapy across various malignancies. ICIs enhance antitumour immunity by targeting inhibitory cell surface rece...
Case Reports
BMJ case reports. 2026 Jan 28;19(1):e270094. DOI:10.1136/bcr-2025-270094 2026
From dog bite to dialysis: complement-mediated haemolytic uraemic syndrome [0.03%]
从犬咬伤到需要透析：补体介导的溶血性尿毒综合征
Tobias Evason Fredriksen,Burhan-Ud-Din Mian,Szilveszter Dolgos
Tobias Evason Fredriksen
A previously healthy woman in her late 40s presented with rapidly progressive sepsis 4 days after a dog bite. She developed disseminated intravascular coagulation, pancytopenia and acute kidney injury, ultimately progressing to complete anu...
Case Reports
BMJ case reports. 2026 Jan 28;19(1):e270618. DOI:10.1136/bcr-2025-270618 2026