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From cranes to crutches: the disabling potential of necrotising myopathy. 从起重机到拐杖：坏死性肌病的致残潜力。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-28 DOI: 10.1136/bcr-2024-262878
Jessica Liang, Leslie Lin, Tanushri Bhushan, Mazhar Shapoo, Arabi Rasendrakumar
{"title":"From cranes to crutches: the disabling potential of necrotising myopathy.","authors":"Jessica Liang, Leslie Lin, Tanushri Bhushan, Mazhar Shapoo, Arabi Rasendrakumar","doi":"10.1136/bcr-2024-262878","DOIUrl":"https://doi.org/10.1136/bcr-2024-262878","url":null,"abstract":"<p><p>We present a case of a middle-aged man with progressive bilateral proximal muscle weakness. Laboratory studies showed a creatine kinase level of 22 000 units/L and hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibody IgG of 109 units. Muscle biopsy revealed necrotic fibres undergoing phagocytosis as well as mixed regenerated and atrophic muscle fibres. The diagnosis of HMGCR necrotising myopathy was confirmed, with marked clinical improvement following mycophenolate mofetil and intravenous immunoglobulin therapy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180566","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
Novel ATP8B1 gene mutation in a family with progressive familial intrahepatic cholestasis. 进行性家族性肝内胆汁淤积症家族的新ATP8B1基因突变
IF 0.6
BMJ Case Reports Pub Date : 2025-05-28 DOI: 10.1136/bcr-2024-264596
Shrutiprajna Kar, Usha Devi, Amit Kumar Satpathy, Praisy Joy
{"title":"Novel ATP8B1 gene mutation in a family with progressive familial intrahepatic cholestasis.","authors":"Shrutiprajna Kar, Usha Devi, Amit Kumar Satpathy, Praisy Joy","doi":"10.1136/bcr-2024-264596","DOIUrl":"https://doi.org/10.1136/bcr-2024-264596","url":null,"abstract":"<p><p>Progressive familial intrahepatic cholestasis (PFIC) denotes a rare, heterogeneous group of hepatobiliary disorders with autosomal recessive inheritance. PFIC 1 results from a genetic mutation involving the ATP8B1 gene on chromosome 18. It classically manifests with infantile-onset cholestasis with pruritus and malabsorption, progressing to hepatic failure in the first decade of life. There are a few other minor manifestations described previously in the literature. We report two siblings with varying clinical presentations of a fatal hepatic disease. Carrier whole-exome sequencing detected a novel heterozygous pathogenic mutation in the exon 28 of the ATPBB1 gene in both parents, thus validating the diagnosis of PFIC 1.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180700","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
Asymptomatic ileal schwannoma with serial CT imaging. 无症状回肠神经鞘瘤伴连续CT影像。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-28 DOI: 10.1136/bcr-2024-263990
Alice Luesley, Tawfiq Hamati, Lisa Shannon, Rao Khalid Mehmood
{"title":"Asymptomatic ileal schwannoma with serial CT imaging.","authors":"Alice Luesley, Tawfiq Hamati, Lisa Shannon, Rao Khalid Mehmood","doi":"10.1136/bcr-2024-263990","DOIUrl":"https://doi.org/10.1136/bcr-2024-263990","url":null,"abstract":"<p><p>Schwannomas are myelin sheath tumours of peripheral nerve cells. They are typically slow growing and benign but have a rare risk of malignant transformation. Schwannomas mostly occur in the head and neck, spine or limbs. Ileal schwannomas are extremely rare with limited description in the literature.A man in his 60s with lower urinary tract symptoms and visible haematuria was referred to a urologist by his general practitioner. A benign-appearing lesion was identified on a CT of the kidneys, urinary tract and bladder (CTKUB), which was retrospectively identified 3 years earlier on a previous CTKUB. The tumour was surgically excised and histologically diagnosed as a benign schwannoma.This case presents radiological evidence of slow progression and is one among only four ileal schwannomas found in men documented in English literature in the last 25 years. With complete excision of benign ileal schwannomas, no cases of recurrence have been reported, suggesting patients can be safely discharged without routine surveillance.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180630","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
Multimodal imaging of a macular coloboma in a man in his eightieth decade. 80多岁男性黄斑色斑的多模态影像分析。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-28 DOI: 10.1136/bcr-2024-264332
David J Ramsey, Adan Bdeir, Laura P Haas, Mahesh Bhardwaj
{"title":"Multimodal imaging of a macular coloboma in a man in his eightieth decade.","authors":"David J Ramsey, Adan Bdeir, Laura P Haas, Mahesh Bhardwaj","doi":"10.1136/bcr-2024-264332","DOIUrl":"https://doi.org/10.1136/bcr-2024-264332","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180896","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
Hereditary haemorrhagic telangiectasia in skin of colour: a dermoscopic, histopathological and radiological approach. 遗传性有色皮肤出血性毛细血管扩张：皮肤镜、组织病理学和放射学方法。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-28 DOI: 10.1136/bcr-2025-265940
Shivangi Singh, Sanjiv Choudhary, Ankita Srivastava, Arjun R Prakashey, Vishvadeep Khushoo
{"title":"Hereditary haemorrhagic telangiectasia in skin of colour: a dermoscopic, histopathological and radiological approach.","authors":"Shivangi Singh, Sanjiv Choudhary, Ankita Srivastava, Arjun R Prakashey, Vishvadeep Khushoo","doi":"10.1136/bcr-2025-265940","DOIUrl":"https://doi.org/10.1136/bcr-2025-265940","url":null,"abstract":"<p><p>Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant disorder characterised by abnormal blood vessel formation, leading to recurrent epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. The diagnosis is clinically based on the Curacao criteria with the triad of mucocutaneous and mucosal telangiectasia (often located on the lips), epistaxis and positive family history. In this case report, we present a woman in her early 50s with symptoms of frequent epistaxis, painful lesions on fingertips and subungual bleeding since childhood. An extensive workup was done, after which the diagnosis of HHT was established. The patient was treated with thalidomide in a dose of 100 mg two times per day, with a reported decrease in episodes of epistaxis and improved general health.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179595","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
Endoilluminator-assisted descemet membrane endothelial keratoplasty (E-DMEK) for enhanced trans-corneal illumination in eyes with chronic pseudophakic bullous keratopathy (PBK). 内源性照明器辅助下胶质膜内皮角膜移植术（E-DMEK）用于增强慢性假性大疱性角膜病变（PBK）患者的经角膜照明。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-27 DOI: 10.1136/bcr-2025-265207
Supriya Sharma, Somasheila I Murthy
{"title":"Endoilluminator-assisted descemet membrane endothelial keratoplasty (E-DMEK) for enhanced trans-corneal illumination in eyes with chronic pseudophakic bullous keratopathy (PBK).","authors":"Supriya Sharma, Somasheila I Murthy","doi":"10.1136/bcr-2025-265207","DOIUrl":"https://doi.org/10.1136/bcr-2025-265207","url":null,"abstract":"<p><p>Descemet membrane endothelial keratoplasty (DMEK) is the most desirable corneal transplant surgery as it is associated with the least chances of failure due to endothelial rejection and has the fastest visual recovery among corneal transplants. This technically challenging surgery involves several critical steps such as graft unfolding, positioning and correct orientation. Severe pre-existing corneal oedema limits visibility and prolongs the surgical duration, adversely affecting the success. We present two cases of severe corneal oedema, poor anterior chamber visualisation, wherein we performed endoilluminator-assisted DMEK (E-DMEK). This helped in intraoperative visualisation, reduced the surgical time and reduced graft manipulation. Postoperatively, both patients showed significant improvement in visual acuity (from counting fingers to 20/80 and 20/30) and reduced corneal thickness (556 and 484 microns) at 6 months. The endoilluminator is a practical and cost-effective modification that improves surgical outcomes for both experienced and novice surgeons, expanding the indications for DMEK and ensuring successful postoperative results.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172735","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
Lipoleiomyoma: a radiological spotlight on the uterus. 子宫脂质肌瘤：子宫的放射聚光灯。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-27 DOI: 10.1136/bcr-2025-266890
Sujata Siwatch, Uma Debi, Amanjot Kaur, Manish Rohilla, Chandra Shekhar Singh Aswal, Gaurav Khastgir
{"title":"Lipoleiomyoma: a radiological spotlight on the uterus.","authors":"Sujata Siwatch, Uma Debi, Amanjot Kaur, Manish Rohilla, Chandra Shekhar Singh Aswal, Gaurav Khastgir","doi":"10.1136/bcr-2025-266890","DOIUrl":"https://doi.org/10.1136/bcr-2025-266890","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172736","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
Xanthogranulomatous prostatitis: benign prostate infection masquerading as invasive prostate cancer on MRI and PET-PSMA. 黄色肉芽肿性前列腺炎：在MRI和PET-PSMA上伪装成侵袭性前列腺癌的良性前列腺感染。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-27 DOI: 10.1136/bcr-2025-265543
Kenneth Keen Yip Chew, Brianna Thompson, Mahtab Farzin, Eddy Lee Hao Wong
{"title":"Xanthogranulomatous prostatitis: benign prostate infection masquerading as invasive prostate cancer on MRI and PET-PSMA.","authors":"Kenneth Keen Yip Chew, Brianna Thompson, Mahtab Farzin, Eddy Lee Hao Wong","doi":"10.1136/bcr-2025-265543","DOIUrl":"https://doi.org/10.1136/bcr-2025-265543","url":null,"abstract":"<p><p>Xanthogranulomatous prostatitis (XGP) is a rare inflammatory condition that can closely mimic prostate adenocarcinoma both clinically and radiologically. We report the case of a man in his mid-60s who presented with pelvic discomfort, dysuria, reduced urine flow and fever. He had an elevated prostate-specific antigen (PSA) level of 17.5 ng/mL and abnormal findings on digital rectal examination. Multi-parametric MRI of the prostate revealed a prostate lesion suspicious for malignancy invading the rectal wall and right obturator internus muscle. However, transperineal prostate biopsies confirmed XGP with no evidence of cancer. The patient was treated with a 4-month course of ciprofloxacin, which resolved most of his symptoms, and alpha-blocker therapy was commenced to improve urine flow. This case emphasises the diagnostic challenges posed by XGP, which can mimic T4 prostate cancer and potentially lead to overtreatment. Awareness of this condition, along with systematic diagnostic strategies, is essential to avoid unnecessary interventions and optimise patient management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172737","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
Gunshot injury to the abdomen: a comparison of the bullet trajectory on CT with intraoperative findings. 腹部枪伤：CT显示的子弹轨迹与术中表现的比较。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-264574
Somil Anshal, Divij Agarwal, Atin Kumar, Sushma Sagar, Vikram Vs, Shivanand Gamanagatti
{"title":"Gunshot injury to the abdomen: a comparison of the bullet trajectory on CT with intraoperative findings.","authors":"Somil Anshal, Divij Agarwal, Atin Kumar, Sushma Sagar, Vikram Vs, Shivanand Gamanagatti","doi":"10.1136/bcr-2024-264574","DOIUrl":"https://doi.org/10.1136/bcr-2024-264574","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156785","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
Using liquid biopsies to guide treatment and monitor response in BRAF V600E positive adenocarcinoma of unknown primary. 用液体活检指导治疗和监测原发不明的BRAF V600E阳性腺癌的反应。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-264469
Philip N Papayanis, Cherry Au, Michael Jelinek, Alan Tan
{"title":"Using liquid biopsies to guide treatment and monitor response in BRAF V600E positive adenocarcinoma of unknown primary.","authors":"Philip N Papayanis, Cherry Au, Michael Jelinek, Alan Tan","doi":"10.1136/bcr-2024-264469","DOIUrl":"10.1136/bcr-2024-264469","url":null,"abstract":"<p><p>Liquid biopsies using circulating tumour DNA (ctDNA) have emerged as an alternative to conventional biopsies. They can be used to aid in diagnosing and selecting an agent for treatment and can possibly be used to monitor disease response to treatment. In this report, we present a patient who initially presented with lower abdominal pain. Imaging showed extensive retroperitoneal lymphadenopathy and lymph node biopsy demonstrated poorly differentiated carcinoma. Further workup did not reveal a primary lesion, but his genetic analysis revealed a BRAF V600E mutation and CD274 amplification which was used to guide treatment of the adenocarcinoma as a melanoma of unknown primary. He was initiated on ipilimumab and nivolumab and his ctDNA levels showed rapid improvement. After treatment was stopped due to adverse events, he was monitored via ctDNA, with an increase prompting repeat imaging that demonstrated enlargement of his lesions prompting a resumption of treatment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156877","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
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