BMJ Case Reports最新文献

{"title":"Awake emergency laparotomy under combined spinal epidural anaesthesia in a high-risk patient with severe pulmonary disease and neuromuscular blocking agent anaphylaxis.","authors":"Shikshya Khatiwoda, Satya Durga Anantapatnaikuni","doi":"10.1136/bcr-2025-269157","DOIUrl":"https://doi.org/10.1136/bcr-2025-269157","url":null,"abstract":"<p><p>Bowel obstruction is a prevalent surgical emergency, particularly among the elderly, necessitating prompt intervention. Emergency laparotomy is associated with high morbidity and mortality, particularly in frail elderly patients with multiple comorbidities. General anaesthesia with neuromuscular blockade is standard practice but may be unsuitable in patients with severe respiratory disease or documented anaphylaxis to neuromuscular blocking agents (NMBAs). Neuraxial anaesthesia is not a novel technique, having been established since Bier's first description of spinal anaesthesia in 1898-1899 and widely adopted in surgical practice long before the introduction of neuromuscular blockade. Nevertheless, its use as the sole anaesthetic technique for emergency laparotomy remains uncommon in modern practice. NMBAs are responsible for approximately 60-70% of anaesthesia-induced hypersensitivity reactions, with rocuronium and succinylcholine being the most frequently implicated agents. Cross-reactivity among NMBAs is well-documented, posing a significant challenge in patients with known allergies<i>.</i>The perioperative management of patients with known NMBA allergies demands meticulous anaesthetic planning to mitigate the risk of adverse reactions while ensuring optimal surgical conditions. Combined spinal-epidural anaesthesia (CSEA) was first introduced by Brownridge in 1981 as an alternative to single-shot spinal or epidural anaesthesia, particularly for caesarean sections. This technique, involving the administration of anaesthetic agents into both the epidural and subarachnoid spaces, was later refined by Coats and Mumtaz <i>et al</i> into the 'needle-through-needle' method.We report a case of an awake emergency laparotomy performed under CSEA in a frail elderly patient with severe chronic obstructive pulmonary disease and life-threatening anaphylaxis to multiple NMBAs. Surgery was completed successfully without conversion to general anaesthesia, and the patient had an uncomplicated perioperative course with no respiratory compromise. This case highlights the feasibility of neuraxial anaesthesia as the sole anaesthetic technique in carefully selected high-risk patients undergoing emergency abdominal surgery and underscores the importance of multidisciplinary planning and shared decision-making.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 9","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873010","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":"Solitary fibrous tumour presenting as massive pleural effusion.","authors":"Rahul Tyagi, Deepankar Khare, Vikram Singh, Hariprasadh Nagarajan","doi":"10.1136/bcr-2026-275133","DOIUrl":"https://doi.org/10.1136/bcr-2026-275133","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863137","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":"Intrapulmonary percussive ventilation for the management of destroyed lung in Swyer-James-MacLeod syndrome.","authors":"Tomoyuki Ogata, Masaaki Kawanishi, Yasuhiro Sugawara, Takaaki Yamashita","doi":"10.1136/bcr-2026-275934","DOIUrl":"https://doi.org/10.1136/bcr-2026-275934","url":null,"abstract":"<p><p>Swyer-James-MacLeod syndrome (SJMS) is a rare disorder resulting from post-infectious bronchiolitis obliterans following lower respiratory tract infection in childhood and may be complicated by bronchiectasis. We report the case of a man in his 60s with a history of childhood pneumonia who was diagnosed with bronchiectasis associated with SJMS. Against a background of chronic <i>Pseudomonas aeruginosa</i> airway infection, progressive structural destruction of the left lung eventually resulted in a destroyed lung. Prior to the introduction of intrapulmonary percussive ventilation (IPV), the patient required hospitalisation for disease management. Following the initiation of IPV, however, he remained free from hospitalisation for 11 years while maintaining independent functional status. This case illustrates a possible natural history of SJMS-associated bronchiectasis progressing to a destroyed lung and suggests that conservative management centred on appropriate airway clearance, including IPV, may contribute to favourable long-term outcomes and the preservation of functional independence, even in patients with advanced structural lung disease.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863100","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":"Urachal abscess associated with Crohn's disease detected by ultrasonography.","authors":"Takuro Nishiwaki, Kenichiro Nakachi, Shion Ando, Tomoyuki Funato","doi":"10.1136/bcr-2026-272622","DOIUrl":"https://doi.org/10.1136/bcr-2026-272622","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863151","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":"Tapioca iris melanoma masquerading as unilateral glaucoma.","authors":"Denis Nevrov, Fiona D'Arcy, Susan Kennedy, Noel Horgan","doi":"10.1136/bcr-2025-271446","DOIUrl":"https://doi.org/10.1136/bcr-2025-271446","url":null,"abstract":"<p><p>A woman in her mid-70s developed uncontrolled intraocular pressure (IOP) in her right eye despite trabeculectomy, Ahmed valve implantation and ongoing topical therapy. Left IOP was normal without treatment. Examination revealed fluffy anterior chamber deposits and vitreous debris. Ultrasound biomicroscopy (UBM) showed diffuse thickening of the iris and ciliary body. Iris biopsy and anterior chamber aspiration confirmed melanoma, and enucleation demonstrated extensive iris and ciliary body involvement with extrascleral extension (stage pT4). This case underscores the diagnostic challenge of lightly pigmented diffuse 'tapioca' iris melanoma and highlights the importance of UBM imaging in evaluating unexplained unilateral glaucoma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863153","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":"IgG4-related disease involving facial, infraorbital, auriculotemporal and optic nerves: multinervous cranial involvement in an adult patient.","authors":"Fadoua El Mourabit, Maryam Elazouani","doi":"10.1136/bcr-2025-267278","DOIUrl":"https://doi.org/10.1136/bcr-2025-267278","url":null,"abstract":"<p><p>IgG4-related disease (IgG4-RD) is a rare fibroinflammatory condition that can mimic infectious or neoplastic diseases, leading to diagnostic challenges. We report a case of a man in his mid-40s presenting with rapidly progressive orbital symptoms initially diagnosed as orbital cellulitis. Despite appropriate surgical and medical management, the patient's condition worsened with multiple cranial nerve involvement.MRI revealed an infiltrative process with perineural extension involving the optic, infraorbital, facial and auriculotemporal nerves. Histopathological examination confirmed IgG4-RD, demonstrating dense lymphoplasmacytic infiltration, storiform fibrosis and numerous IgG4-positive plasma cells. Serum IgG4 levels were markedly elevated.The patient responded well to corticosteroid therapy with significant clinical and radiological improvement. This case highlights an unusual presentation of IgG4-RD masquerading as orbital cellulitis and emphasises the importance of reconsidering the diagnosis when the clinical course is atypical or discordant with an infectious process.Early recognition is crucial to avoid unnecessary surgical interventions and prevent irreversible neurological damage.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863075","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":"Bilateral granulomatous uveitis mimicking tuberculosis: an atypical ocular presentation of biopsy-proven disseminated histoplasmosis.","authors":"Shikha Agarwal, Prolima Thacker, Sunita Yadav, Nistha Singh, Luxmi Singh","doi":"10.1136/bcr-2026-275096","DOIUrl":"https://doi.org/10.1136/bcr-2026-275096","url":null,"abstract":"<p><p>Ocular histoplasmosis typically presents as presumed ocular histoplasmosis syndrome, characterised by chorioretinal scars and peripapillary atrophy without intraocular inflammation. Active inflammatory presentations are exceedingly rare and may closely mimic tuberculosis in endemic regions, posing significant diagnostic challenges.We report a middle-aged immunocompetent male farmer who presented with acute bilateral visual loss, redness and floaters. Examination revealed bilateral granulomatous anterior uveitis with dense vitritis with mutton-fat keratic precipitates, dense vitritis and 4+ anterior chamber reaction. Systemic evaluation identified a laryngeal mass; histopathological examination confirmed disseminated <i>Histoplasma capsulatum</i> infection. QuantiFERON-TB Gold and HIV serology were negative. Itraconazole was initiated before systemic corticosteroids, with marked clinical improvement and visual recovery from 6/60 to 6/18 bilaterally within 1 week.This case underscores the importance of systemic evaluation, tissue diagnosis and appropriate antifungal cover preceding corticosteroid use in presumed histoplasma-associated granulomatous uveitis in endemic settings.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863011","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":"Heavy eye syndrome in a paediatric patient: an unusual presentation of highly myopic restrictive strabismus.","authors":"Giuseppe Rao, Simone Cuccurnia, Alice Laviosa, Luigi Massa, Rossana Gilda Del Re, Enrica Spaletra, Elisa Tassara, Massimiliano Serafino","doi":"10.1136/bcr-2026-275803","DOIUrl":"https://doi.org/10.1136/bcr-2026-275803","url":null,"abstract":"<p><p>Heavy eye syndrome is an acquired restrictive strabismus typically observed in adult patients with high axial myopia. We report an unusual paediatric case of a teenage girl with progressive myopia and a large-angle esotropia. Coronal orbital MRI confirmed the diagnosis by showing inferior slippage of the lateral recti and nasal slippage of the superior recti. Management involved a two-stage surgical approach: a bilateral Yokoyama procedure followed by bilateral medial rectus recession. This strategy achieved a successful correction of the ocular alignment and significant improvement in ocular motility, along with the restoration of simultaneous perception.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863129","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":"Calcitonin-negative medullary thyroid carcinoma in a young adult.","authors":"Philippos Tasioudis, Angeliki Emmanouilidou, Magdalini Louka, Nikolaos Michalopoulos","doi":"10.1136/bcr-2026-272358","DOIUrl":"https://doi.org/10.1136/bcr-2026-272358","url":null,"abstract":"<p><p>Medullary thyroid carcinoma (MTC) is typically identified by elevated serum calcitonin levels, as the tumour's C-cell origin generally produces this hormone. On rare occasions, however, a patient with MTC may present with a non-elevated calcitonin level, complicating early detection. We report such a case of a woman in her early 20s with a thyroid nodule and no initial biochemical markers suggestive of MTC. Despite normal laboratory findings, she was ultimately diagnosed with calcitonin-negative MTC following comprehensive evaluation, which included cytology and immunohistochemistry. We also discuss the current understanding of this rare condition's pathogenesis, which remains under investigation, as well as the current standard of care, both pharmacological and surgical management and finally the potential and recommended follow-up procedures for patients with this rare diagnosis in accordance with existing guidelines. This case underscores the necessity for clinicians to sometimes rely on more than standard tumour markers when evaluating thyroid nodules that appear ambiguous.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863034","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":"Homozygous 11q14.3 deletion causing oculocutaneous albinism and multisystem disorder.","authors":"Jincy Mariya Paul, Vyshnavika Mupparapu, Goura Chattannavar","doi":"10.1136/bcr-2026-274952","DOIUrl":"https://doi.org/10.1136/bcr-2026-274952","url":null,"abstract":"<p><p>Oculocutaneous albinism (OCA) is characterised by hypopigmentation of the skin, hair and eyes. Developmental delay is not a commonly reported feature in OCA. A female toddler was diagnosed with OCA, global developmental delay, hypotonia and congenital heart disease.Given the coexisting neurodevelopmental and cardiac abnormalities, chromosomal microarray (CMA) analysis was performed, which revealed a homozygous deletion at chromosome 11q14.3 involving the <i>TYR</i>, <i>GRM5</i> and <i>NOX4</i> genes. Parental segregation analysis using CMA demonstrated heterozygous deletions in both parents, with the proband's homozygous deletion resulting from overlapping parental deletions.To our knowledge, this is the first reported case of a large <i>TYR</i> gene deletion causing OCA, thereby expanding the mutational spectrum associated with the disorder. This case highlights the importance of detailed phenotyping and appropriate selection of genetic testing. Additionally, parental segregation analysis plays a crucial role in improving diagnostic accuracy and in understanding genotype-phenotype correlations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849717","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}