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Adult patient with enteric intussusception in the emergency department. 急诊科的成年肠套叠患者。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-30 DOI: 10.1136/bcr-2024-263679
Osama Abdelsamad, Helena Fitzpatrick, Barry Keane, Darragh Shields
{"title":"Adult patient with enteric intussusception in the emergency department.","authors":"Osama Abdelsamad, Helena Fitzpatrick, Barry Keane, Darragh Shields","doi":"10.1136/bcr-2024-263679","DOIUrl":"https://doi.org/10.1136/bcr-2024-263679","url":null,"abstract":"<p><p>Acute abdominal pain in adults is a quite common presentation to emergency departments (EDs) with a broad differential diagnosis. Intussusception in adults is rare, so a high index of suspicion is required to consider it as a differential diagnosis. The most common site of an adult's intussusception is the small bowel, most commonly due to a well-defined lesion resulting in a lead point. CT abdominal scan is the definitive investigation of choice, leading to prompt diagnosis and early definitive surgical treatment.We present a case of a woman in her 30s, with a previous laparoscopic partial gastrectomy, who presented to our ED with acute onset of abdominal pain associated with dry retching. Her abdominopelvic CT scan showed small bowel obstruction due to enteric intussusception. She underwent an urgent exploratory laparotomy with manual reduction of the intussusception with no adverse immediate postoperative outcomes due to early diagnosis and management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191471","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
Abemaciclib-Induced Pseudo-AKI: an underrecognised finding. abemaciclib诱导的伪aki：一个未被充分认识的发现。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-30 DOI: 10.1136/bcr-2024-261725
Payton Markley, Salam Kadhem, Joseph Moore
{"title":"Abemaciclib-Induced Pseudo-AKI: an underrecognised finding.","authors":"Payton Markley, Salam Kadhem, Joseph Moore","doi":"10.1136/bcr-2024-261725","DOIUrl":"https://doi.org/10.1136/bcr-2024-261725","url":null,"abstract":"<p><p>Targeted therapy-induced acute kidney injury (AKI) can complicate oncologic treatment. We present a case of creatinine elevation induced by abemaciclib, a cyclin-dependent kinases 4 and 6 inhibitor used in advanced breast cancer which can also cause nephrotoxicity. A female patient in her mid-sixties was referred to nephrology for elevated serum creatinine after starting abemaciclib. Diagnostic workup, including blood urea nitrogen (BUN), serum cystatin C, urine protein measurement, and serum electrolytes revealed no evidence of renal dysfunction. This case emphasises the importance of distinguishing creatinine elevation from true nephrotoxicity to avoid unnecessary treatment adjustments. Abemaciclib and other targeted therapies can induce creatinine elevation by inhibiting proximal tubule secretory transporters, rather than through direct nephrotoxicity. By incorporating additional assessments such as BUN, serum cystatin C, and additional biomarkers including urinary neutrophil gelatinase-associated lipocalin and kidney injury molecule 1, clinicians can distinguish creatinine elevation from AKI to guide appropriate management of oncologic diseases.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191470","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
Rare aggressive presentation of primary cutaneous diffuse large B-Cell lymphoma, leg type, in the upper arm with concurrent non-small cell lung cancer. 罕见侵袭性原发性皮肤弥漫性大b细胞淋巴瘤，腿部型，上臂并发非小细胞肺癌。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-30 DOI: 10.1136/bcr-2024-264401
Zinab Alatawi, Lauren Passby, Ghazia Kaushal
{"title":"Rare aggressive presentation of primary cutaneous diffuse large B-Cell lymphoma, leg type, in the upper arm with concurrent non-small cell lung cancer.","authors":"Zinab Alatawi, Lauren Passby, Ghazia Kaushal","doi":"10.1136/bcr-2024-264401","DOIUrl":"https://doi.org/10.1136/bcr-2024-264401","url":null,"abstract":"<p><p>A female patient in her early 90s presented with a rapidly growing erythematous plaque on the right upper arm. Histopathological analysis revealed dense dermal lymphoid infiltrate with a non-germinal centre phenotype (CD20+, MUM1+, BCL2+, BCL6+, CD10-). Histology confirmed the diagnosis to be primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT). Elevated Ki-67 (90%) indicated aggressive disease. Subsequent Positron Emission Tomography (PET)-CT staging revealed right axillary lymphadenopathy and coincidentally diagnosed recurrent non-small cell lung cancer (NSCLC). The PCDLBCL-LT was treated with localised radiotherapy after the patient declined chemotherapy. This case report highlights an unusual presentation of PCDLBCL-LT on the upper limb. It further emphasises the challenges posed in diagnosing and treating solitary skin lesions among older patients with a prior oncological history while highlighting the importance of an individualised multidisciplinary approach for safe and efficacious treatment in the context of advanced age and multiple comorbidities.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191472","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
Post-trauma lymphangiectasis of the lower limb mimicking haematoma. 创伤后下肢淋巴管扩张，类似血肿。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-29 DOI: 10.1136/bcr-2024-264111
Zahran Al-Thuhli, Naima Al Balushi
{"title":"Post-trauma lymphangiectasis of the lower limb mimicking haematoma.","authors":"Zahran Al-Thuhli, Naima Al Balushi","doi":"10.1136/bcr-2024-264111","DOIUrl":"https://doi.org/10.1136/bcr-2024-264111","url":null,"abstract":"<p><p>Lymphangiectasia of the lower limbs is a rare condition characterised by the dilation of lymphatic vessels, often resulting from damage or obstruction to deeper lymphatic structures. This disruption leads to increased lymphatic pressure. While lymphangiectasia typically manifests in the viscera, its occurrence in the lower limbs is less common but still clinically relevant.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186545","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
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
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