发布求助
文献互助 智能选刊 最新文献

BMJ Case Reports最新文献

筛选
英文 中文
A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis. 诊断不确定的十年：从神经发育障碍到自身免疫性脑炎的发现。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-267057
Vykuntaraju K Gowda, Archana Varghese, Maria P Varghese, Viveka Santhosh Reddy Challa
{"title":"A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis.","authors":"Vykuntaraju K Gowda, Archana Varghese, Maria P Varghese, Viveka Santhosh Reddy Challa","doi":"10.1136/bcr-2025-267057","DOIUrl":"10.1136/bcr-2025-267057","url":null,"abstract":"<p><p>This case report describes an early adolescent girl who began experiencing recurrent paroxysmal events, behavioural changes and involuntary body movements from toddler age, shortly after a febrile illness. Prolonged seizures and developmental regression followed the febrile episode. Although she regained most of her milestones, she continued to have seizures over the years and developed stereotypic hand movements, emotional instability and hyperactivity. Despite extensive investigations, a definitive diagnosis remained elusive. She was initially diagnosed with intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder and seizure disorder. However, re-evaluation in early adolescence confirmed the presence of intrathecal N-methyl-D-aspartate receptor antibodies and type 2 oligoclonal bands, thereby establishing the diagnosis. The patient was treated with a combination of immunotherapies, including methylprednisolone, rituximab and intravenous immunoglobulin, with partial clinical improvement observed over 4 months of follow-up. This case highlights the importance of reconsidering the diagnosis in children presenting with unexplained neuropsychiatric symptoms and seizures.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069054","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}
引用次数: 0
Clinical and molecular mechanistic insights into the WDR72 mutation. WDR72突变的临床和分子机制。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-265122
Aakash Gupta, Ajay Elangovan, Ramandeep Singh, Arvinder Wander
{"title":"Clinical and molecular mechanistic insights into the WDR72 mutation.","authors":"Aakash Gupta, Ajay Elangovan, Ramandeep Singh, Arvinder Wander","doi":"10.1136/bcr-2025-265122","DOIUrl":"10.1136/bcr-2025-265122","url":null,"abstract":"<p><p>Distal renal tubular acidosis (dRTA) is a rare kidney disorder with an incidence of less than 1 in 100 000 people, characterised by metabolic acidosis and hypokalaemia. While mutations in genes such as ATP6V1B1, ATP6V0A4 and SLC4A1 are commonly associated with dRTA, this study reports a rare variant of the <i>WDR72</i> gene in siblings from the Punjabi population in India. The individuals exhibited amelogenesis imperfecta (AI), hypokalaemic periodic paralysis (HPP) and acidaemia due to impaired ion transport in the distal convoluted tubule. Genetic testing revealed novel variants in the <i>WDR72</i> gene: c.2934G>A, p.Trp978 and c.781G>A, p.Gly261Arg. Researchers observed a positive therapeutic response following potassium supplementation. This study highlights a rare <i>WDR72</i> variant associated with AI, dRTA and HPP, and explores the potential underlying molecular mechanisms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069076","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}
引用次数: 0
Jejunal Dieulafoy lesion causing massive gastrointestinal bleed. 空肠十二指肠病变，引起大量胃肠道出血。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-266494
Vivek G Nath, Hari Govind K, Deepak K Johnson, Elizabeth Joseph, Sujith Philip, Rahitha Raj Ajimol Rajeev
{"title":"Jejunal Dieulafoy lesion causing massive gastrointestinal bleed.","authors":"Vivek G Nath, Hari Govind K, Deepak K Johnson, Elizabeth Joseph, Sujith Philip, Rahitha Raj Ajimol Rajeev","doi":"10.1136/bcr-2025-266494","DOIUrl":"10.1136/bcr-2025-266494","url":null,"abstract":"<p><p>Dieulafoy lesions are a rare, non-variceal cause of gastrointestinal (GI) bleeding arising from dilated submucosal arteries without any underlying ulcer, which if undiagnosed can cause significant morbidity and mortality. We present a young female with massive upper and lower GI bleeding with haemodynamic instability, the source of which could not be identified with upper and lower endoscopy or radiological investigations. We therefore employed capsule endoscopy, which identified the location as the mid-jejunum. In view of ongoing bleeding, an emergency laparotomy with resection and anastomosis of the affected bowel was performed. Massive obscure small bowel bleeds pose major diagnostic and therapeutic challenges, which can be tackled only by timely intervention.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069052","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}
引用次数: 0
Recognition of a cardiac differential diagnosis for bronchiolitis: coronary steal phenomenon in a baby with anomalous right pulmonary artery arising from the aorta. 细支气管炎心脏鉴别诊断的认识：由主动脉引起的右肺动脉异常的婴儿冠状动脉偷取现象。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-14 DOI: 10.1136/bcr-2025-266867
Daniel George Rack, Toranj Wadia, Joseph Wacher
{"title":"Recognition of a cardiac differential diagnosis for bronchiolitis: coronary steal phenomenon in a baby with anomalous right pulmonary artery arising from the aorta.","authors":"Daniel George Rack, Toranj Wadia, Joseph Wacher","doi":"10.1136/bcr-2025-266867","DOIUrl":"10.1136/bcr-2025-266867","url":null,"abstract":"<p><p>A COVID-19-positive baby with acute respiratory failure and a working diagnosis of bronchiolitis deteriorated rapidly despite usual resuscitative measures. Respiratory acidosis and oxygenation improved with invasive ventilation; however, the patient became progressively hypotensive and showed a poor response to vasopressors. Bedside ultrasound showed right heart dilatation, troponin was raised, and the ECG had ischaemic changes. Echocardiography diagnosed anomalous aortic origin of the right pulmonary artery (RPA), with continuous left-to-right shunt and holodiastolic flow reversal in the abdominal aorta. This raised suspicion of a coronary steal phenomenon, explaining deterioration in response to typical resuscitation. An oxygen saturation (SpO2) target of 80-88% and permissive hypercapnia helped restore balanced circulations and improve coronary perfusion. He ultimately underwent a complete surgical repair with good recovery. We discuss opportunities for earlier recognition of cardiac differential diagnoses in a neonate with respiratory failure, including the use of bedside ultrasound, which is of interest to paediatric generalists, intensivists and emergency practitioners.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069074","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}
引用次数: 0
Inguinal endometriosis: a rare entity of a common condition . 腹股沟子宫内膜异位症：一种罕见的常见病。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-11 DOI: 10.1136/bcr-2025-265155
Senapathige Nilan Kalidasa Rodrigo, Eranda Diyagama Gunasekera, Iranthi Kumarasinghe, Nadeeja Samarasekera
{"title":"Inguinal endometriosis: a rare entity of a common condition .","authors":"Senapathige Nilan Kalidasa Rodrigo, Eranda Diyagama Gunasekera, Iranthi Kumarasinghe, Nadeeja Samarasekera","doi":"10.1136/bcr-2025-265155","DOIUrl":"10.1136/bcr-2025-265155","url":null,"abstract":"<p><p>A woman in her mid-40s experienced a painful lump in the right groin area for 5 years, with exacerbation during menstruation, coughing and sneezing. Initial treatment with depot methylprednisolone acetate injection was ineffective. 2 years later, at a different hospital, an endometriotic mass was identified in the right inguinal region, and excision was not performed because of the propensity for vascular injury; instead, three doses of depot medroxyprogesterone acetate significantly alleviated the pain. When she presented to our hospital, a provisional diagnosis of right inguinal endometriosis was made after an ultrasound examination. A multidisciplinary approach involving a surgeon was employed for excision surgery, with meticulous attention given to avoiding femoral vein injury.This case study underscores the importance of collaboration between specialties for accurate diagnosis and effective surgical management of inguinal endometriosis. Preoperative imaging is useful, but the final diagnosis can be confirmed only after surgical excision and histopathology.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051798","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}
引用次数: 0
Anaesthetic management of a patient with isolated non-syndromic sagittal craniosynostosis undergoing cranial vault reconstruction in the sphinx position. 孤立性无综合征矢状颅缝闭塞患者在狮身人面像位颅底重建的麻醉处理。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-11 DOI: 10.1136/bcr-2025-266735
Joanna Domini Bernardino, Geraldine Raphaela Jose
{"title":"Anaesthetic management of a patient with isolated non-syndromic sagittal craniosynostosis undergoing cranial vault reconstruction in the sphinx position.","authors":"Joanna Domini Bernardino, Geraldine Raphaela Jose","doi":"10.1136/bcr-2025-266735","DOIUrl":"10.1136/bcr-2025-266735","url":null,"abstract":"<p><p>Anaesthetic key considerations for cranial vault reconstruction for patients with craniosynostosis include securing the airway, proper positioning, ventilation strategies, maintaining intracranial homeostasis, and careful monitoring of haemodynamics, temperature, and the occurrence of venous air embolism. This case report presents the anaesthetic approach to an infant with isolated non-syndromic sagittal craniosynostosis who successfully underwent cranial vault reconstruction in the sphinx position under general endotracheal anaesthesia maintained with sevoflurane and remifentanil. A thorough understanding of surgical and anaesthetic considerations perioperatively will guide the anaesthesiologist in planning individualised care for a positive patient outcome. Proper discussion with the neurosurgeon and surgical team about perioperative goals for the patient is a vital key to a successful procedure.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051823","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}
引用次数: 0
Granulomatous flexor tenosynovitis due to Mycobacterium intracellulare. 由胞内分枝杆菌引起的肉芽肿性屈肌腱滑膜炎。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-11 DOI: 10.1136/bcr-2025-267138
Koma Hotta, Takamasa Ito, Takeharu Nakamata, Haruki Imura
{"title":"Granulomatous flexor tenosynovitis due to <i>Mycobacterium intracellulare</i>.","authors":"Koma Hotta, Takamasa Ito, Takeharu Nakamata, Haruki Imura","doi":"10.1136/bcr-2025-267138","DOIUrl":"10.1136/bcr-2025-267138","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12427172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051857","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}
引用次数: 0
Herpes zoster ophthalmicus following platelet-rich plasma therapy for androgenetic alopecia. 富血小板血浆治疗雄激素性脱发后的眼带状疱疹。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-11 DOI: 10.1136/bcr-2025-266609
George Riding, Sam Myers, Saurabh Jain
{"title":"Herpes zoster ophthalmicus following platelet-rich plasma therapy for androgenetic alopecia.","authors":"George Riding, Sam Myers, Saurabh Jain","doi":"10.1136/bcr-2025-266609","DOIUrl":"10.1136/bcr-2025-266609","url":null,"abstract":"<p><p>A man in his 60s developed herpes zoster ophthalmicus (HZO) with secondary preseptal cellulitis after receiving platelet-rich plasma (PRP) injections for androgenetic alopecia. Despite initial treatment for suspected allergic reaction and bacterial cellulitis, his condition worsened until HZO was confirmed, and he was treated with both intravenous antivirals and antibiotics. This is the second reported case of HZO following PRP in the literature, suggesting a rare potential adverse reaction. The temporal and anatomical association strongly implicates PRP as a trigger, possibly due to immune modulation or contamination. Standardised PRP protocols and administration by trained medical professionals are crucial to mitigate risks.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051795","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}
引用次数: 0
Over-lengthened chronic post-Achilles rupture: an indirect approach to shortening an over-lengthened post-Achilles rupture using a knotless anchor fixation system at the Achilles insertion. 过长慢性跟腱后破裂：在跟腱止点处使用无节锚定固定系统间接缩短过长跟腱后破裂。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-11 DOI: 10.1136/bcr-2025-266108
Derek Protheroe, Anthony Waddington
{"title":"Over-lengthened chronic post-Achilles rupture: an indirect approach to shortening an over-lengthened post-Achilles rupture using a knotless anchor fixation system at the Achilles insertion.","authors":"Derek Protheroe, Anthony Waddington","doi":"10.1136/bcr-2025-266108","DOIUrl":"10.1136/bcr-2025-266108","url":null,"abstract":"<p><p>This case demonstrates an indirect approach to addressing an over-lengthening of a chronic Achilles tendon post-rupture. A knotless tissue anchor was used to provide stability and allow for an earlier weight-bearing regime. The patient returned to work activities by 12 weeks, demonstrating good functional outcome. The case fulfils the key aims of restoring anatomical length and physiological tension, providing adequate strength for proper propulsion, optimising functional return to activity, decreasing any associated pain and reducing potential complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051860","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}
引用次数: 0
Adult staphylococcal scalded skin syndrome in an immunocompetent individual. 免疫正常个体的成人葡萄球菌烫伤皮肤综合征。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-11 DOI: 10.1136/bcr-2025-265911
Shruti Kulkarni, Sanjna Durgada, Ajit B Janagond, Arun Inamadar
{"title":"Adult staphylococcal scalded skin syndrome in an immunocompetent individual.","authors":"Shruti Kulkarni, Sanjna Durgada, Ajit B Janagond, Arun Inamadar","doi":"10.1136/bcr-2025-265911","DOIUrl":"https://doi.org/10.1136/bcr-2025-265911","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051806","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}
引用次数: 0
首页 上一页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：604180095
Book学术官方微信