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Bilateral malignant struma ovarii with concurrent thyroid carcinoma.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-263514
Gwendolyn Glatz, Danielle Lann, Pritinder Thind, Karim ElSahwi
{"title":"Bilateral malignant struma ovarii with concurrent thyroid carcinoma.","authors":"Gwendolyn Glatz, Danielle Lann, Pritinder Thind, Karim ElSahwi","doi":"10.1136/bcr-2024-263514","DOIUrl":"https://doi.org/10.1136/bcr-2024-263514","url":null,"abstract":"<p><p>Malignant struma ovarii (MSO) is a rare ovarian tumour. The co-occurrence of MSO and thyroid carcinoma is even rarer. There is no established treatment for these patients. We report a postmenopausal woman in her 60s who presented with left hip pain, increased urinary frequency and fatigue. Imaging showed a left adnexal cystic lesion 8.8 cm in diameter and an incidental 12×8 mm right ovarian cyst. She underwent total laparoscopic hysterectomy and bilateral salpingo-oophorectomy, and findings were significant for bilateral stage IA MSO. The metastatic workup showed concurrent papillary thyroid carcinoma. She underwent total thyroidectomy with neck dissection and radioactive iodine (RAI) adjuvant therapy. While thyroid carcinoma management is more standardised, a literature review yielded a wide range of MSO treatments. Recent literature favours conservative management with unilateral salpingo-oophorectomy. RAI therapy in these cases is controversial. We will discuss the literature findings on the optimal treatment of MSO with concurrent thyroid cancer.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810463","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
Isolated follicular lymphoma of the inferior oblique muscle presenting as an orbital mass.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-261097
Amy Coman, Alexandra McCreery, Princeton Lee
{"title":"Isolated follicular lymphoma of the inferior oblique muscle presenting as an orbital mass.","authors":"Amy Coman, Alexandra McCreery, Princeton Lee","doi":"10.1136/bcr-2024-261097","DOIUrl":"https://doi.org/10.1136/bcr-2024-261097","url":null,"abstract":"<p><p>A healthy, middle-aged woman presented to the ophthalmology outpatient department with a 12-month history of a palpable, non-tender mass on her right lower eyelid. The patient reported a 3-month history of night sweats. Her medical, family and social histories were unremarkable. On examination, her visual acuity was 6/6 in both eyes. She had a mass located inferior to the medial canthus and tethered to the orbital rim. She did not have diplopia, proptosis or strabismus and her ocular examination was otherwise normal. Imaging, biopsy and immunohistochemistry testing confirmed a diagnosis of follicular lymphoma isolated to the inferior oblique muscle. Following diagnosis, she underwent systemic immunomodulatory therapy. Although rare, orbital adnexal lymphoma involving the extraocular muscles should be considered in cases of identified unilateral, painless or localised orbital masses.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810480","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
Remote presentation of nivolumab-induced bullous pemphigoid in hepatocellular carcinoma.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-263285
Ashley Yoo, Joyce Chen, Vivek Sarma, Cherinne Arundel
{"title":"Remote presentation of nivolumab-induced bullous pemphigoid in hepatocellular carcinoma.","authors":"Ashley Yoo, Joyce Chen, Vivek Sarma, Cherinne Arundel","doi":"10.1136/bcr-2024-263285","DOIUrl":"https://doi.org/10.1136/bcr-2024-263285","url":null,"abstract":"<p><p>A man in his 70s with a history of unresectable hepatocellular carcinoma (HCC) treated with nivolumab presented with a blistering rash 14 months after nivolumab initiation. Biopsies and direct immunofluorescence confirmed the diagnosis of bullous pemphigoid (BP). BP is an autoimmune skin disorder in which autoantibodies bind to the dermal-epidermal junction. It is a rare sequela of programmed cell death protein-1 (PD-1) inhibitors that can develop after treatment initiation and typically resolve soon after discontinuation. Most cases are reported in melanoma and non-small cell lung cancers, and rarely in HCC irrespective of the timing of onset. We describe a rare presentation of remote BP with PD-1 inhibitor use in HCC. PD-1 inhibitor-induced BP is a rare cutaneous immune-related adverse event, and this case highlights the variability in onset and chronicity.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810215","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
Managing anticoagulation and thromboembolic risk in cryptogenic stroke associated with patent foramen ovale.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2024-264776
Gautier Randour, Nicolas Brassart, Marie Dagonnier, Benjamin Bollens
{"title":"Managing anticoagulation and thromboembolic risk in cryptogenic stroke associated with patent foramen ovale.","authors":"Gautier Randour, Nicolas Brassart, Marie Dagonnier, Benjamin Bollens","doi":"10.1136/bcr-2024-264776","DOIUrl":"https://doi.org/10.1136/bcr-2024-264776","url":null,"abstract":"<p><p>Cryptogenic stroke (CS) in young adults may be associated with the presence of a patent foramen ovale (PFO). This case report presents a woman in her 40s admitted with sudden left hemiplegia. Imaging confirmed an ischaemic stroke in the right middle cerebral artery territory and occlusion of the right internal carotid artery. Further investigations identified a large PFO associated with an atrial septal aneurysm. An in-depth assessment revealed a distal deep vein thrombosis (DVT). Initial anticoagulation therapy was interrupted due to severe metrorrhagia, necessitating the placement of an inferior vena cava (IVC) filter. Subsequent extensive thrombosis of the IVC led to initiation of low molecular weight heparin followed by long-term direct oral anticoagulants. This case highlights the complexity of managing CS with PFO, emphasising the importance of thorough aetiological evaluation to distinguish pathogenic from incidental PFO, and the need for a personalised and multidisciplinary therapeutic strategy to balance thromboembolic and haemorrhagic risks effectively.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802395","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
Congenital cutis laxa type IC in a newborn with a newly identified genetic variant.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2024-264742
João Teixeira, Keyla Sousa, Francisco Martins, Leonor Castendo Ramos
{"title":"Congenital cutis laxa type IC in a newborn with a newly identified genetic variant.","authors":"João Teixeira, Keyla Sousa, Francisco Martins, Leonor Castendo Ramos","doi":"10.1136/bcr-2024-264742","DOIUrl":"https://doi.org/10.1136/bcr-2024-264742","url":null,"abstract":"<p><p>Congenital cutis laxa is a rare connective tissue disorder, often apparent at birth or shortly thereafter, characterised by loose, redundant and inelastic skin that hangs in folds. In addition to cutaneous abnormalities, the condition can have systemic features including pulmonary, cardiovascular and gastrointestinal involvement, with varying severity depending on the underlying genetic mutation. We report the case of a Caucasian male newborn who presented with loose, wrinkled skin at birth. Initially evaluated for both cardiac and diaphragmatic abnormalities, the dermatological assessment was crucial in establishing the diagnosis, which was later confirmed by genetic testing. This case highlights the importance of early recognition and comprehensive assessment of cutaneous and systemic manifestations in newborns with suspected connective tissue disorders.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802442","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
Decompensated liver failure due to portal hypertension as a result of hepatic arteriovenous malformations.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2024-264654
Pernille Darre Haahr, Gustav Bang Harvald, Annette Dam Fialla
{"title":"Decompensated liver failure due to portal hypertension as a result of hepatic arteriovenous malformations.","authors":"Pernille Darre Haahr, Gustav Bang Harvald, Annette Dam Fialla","doi":"10.1136/bcr-2024-264654","DOIUrl":"https://doi.org/10.1136/bcr-2024-264654","url":null,"abstract":"<p><p>Portal hypertension is usually seen because of liver cirrhosis, causing a plethora of symptoms such as ascites and oesophageal varices. However, altered hepatic vasculature can affect the portal venous pressure and thereby cause portal hypertension, giving rise to similar symptomology. This paper presents a case of recurring severe gastrointestinal (GI) bleeding, ascites and oesophageal varices in a patient with hepatic arteriovenous malformations (HAVM). Physical examination, liver biopsy, clinical imaging and genetic testing disproved hereditary haemorrhagic telangiectasia (HHT) and liver cirrhosis. Bevacizumab (BVZ) was initiated on the basis of experience from treating vascular malformations in HHT patients. The patient has not shown signs of GI bleeding since the initiation of BVZ. Genetic testing detected a mutation in the <i>EPHB4</i> gene of previously unknown significance, but a connection with vascular malformations has been suggested in the literature. Collectively, this case calls for considering hepatic vascular malformations in patients with non-cirrhotic portal hypertension.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802391","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
Thrombectomy averted stroke: evidence of tissue salvageability after thrombectomy.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2024-263961
Onur Tanglay, Dennis Cordato, Mark Parsons, Nathan Manning, Jason Wenderoth, Cecilia Cappelen-Smith
{"title":"Thrombectomy averted stroke: evidence of tissue salvageability after thrombectomy.","authors":"Onur Tanglay, Dennis Cordato, Mark Parsons, Nathan Manning, Jason Wenderoth, Cecilia Cappelen-Smith","doi":"10.1136/bcr-2024-263961","DOIUrl":"https://doi.org/10.1136/bcr-2024-263961","url":null,"abstract":"<p><p>Advances in stroke management are increasingly improving patient outcomes. We present two cases which demonstrate how endovascular thrombectomy (EVT) can alter tissue fate in ischaemic stroke. We present two cases of patients who presented with acute stroke symptoms. They both underwent imaging with CT, CT angiography and CT perfusion, which were indicative of acute ischaemic stroke. Both patients subsequently underwent EVT. On follow-up MRI within 5 days of their presentation, there were no findings indicative of ischaemic stroke. These cases of thrombectomy averted stroke are likely to become more frequent in clinical practice with advances in stroke management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802401","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
Extranodal NK/T-cell lymphoma presenting as fatal gastrointestinal bleeding and haemophagocytic lymphohistiocytosis.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2024-263858
Neha Maini, Kathryn Biddle, Anna Green, Michelle Fernando, Giovanni Sanna
{"title":"Extranodal NK/T-cell lymphoma presenting as fatal gastrointestinal bleeding and haemophagocytic lymphohistiocytosis.","authors":"Neha Maini, Kathryn Biddle, Anna Green, Michelle Fernando, Giovanni Sanna","doi":"10.1136/bcr-2024-263858","DOIUrl":"https://doi.org/10.1136/bcr-2024-263858","url":null,"abstract":"<p><p>Haemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome that should be considered in patients with persistent fevers. Here, we present a patient with a clinical diagnosis of Behçet's disease who presented acutely with rectal bleeding secondary to acute intraluminal ileal haemorrhage. During her admission, she developed HLH with fevers, hyperferritinaemia, cytopaenia and coagulopathy. Despite treatment with intravenous corticosteroids and anakinra, her condition deteriorated rapidly, and she died 16 days later. After her death, the diagnosis of extranodal NK/T-cell lymphoma was made based on bone marrow biopsy and bowel histopathology. This case highlights the importance of early consideration of HLH in patients with fevers, falling cell counts and hyperferritinaemia and identification of the underlying aetiology. Through this case report, we discuss the diagnostic challenges and importance of a multidisciplinary approach.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802393","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
Mycotic aneurysms in a toddler with catastrophic consequences.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2025-264810
Rajesh Balan, Padmasani Venkat Ramanan, Vidya Sukumar, Geetha Rani Mangam
{"title":"Mycotic aneurysms in a toddler with catastrophic consequences.","authors":"Rajesh Balan, Padmasani Venkat Ramanan, Vidya Sukumar, Geetha Rani Mangam","doi":"10.1136/bcr-2025-264810","DOIUrl":"https://doi.org/10.1136/bcr-2025-264810","url":null,"abstract":"<p><p>A male toddler presented with fever and left leg pain for 3 days, and a week later, he developed severe pain abdomen and discolouration of the right toe with absent right lower limb pulses. There was a history of burns with <i>Pseudomonas</i> sepsis 9 months ago and ischaemic stroke involving the left middle cerebral artery 6 months ago.On further evaluation, CT angiogram showed a saccular aneurysm involving the abdominal aorta and the right proximal external iliac artery with a thrombus extending into the distal external iliac artery. He was managed with right transiliac embolectomy, endoaneurysmorraphy, intravenous antibiotics and anticoagulation. His symptoms subsided, and on follow-up, he has recovered without major deficits.Mycotic aneurysms, though rare in children, can develop after postburn sepsis due to bacterial seeding of the vessel walls. Thrombosis is known to develop in mycotic aneurysms. Awareness about this complication of sepsis, prompt recognition and management can save the limb.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802399","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
Acute lymphoblastic leukaemia presenting as chronic recurrent multifocal osteomyelitis.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-07 DOI: 10.1136/bcr-2024-264688
Devina Singh, Arpita Bhriguvanshi, Chandra Kanta Kumar, Nishant Verma
{"title":"Acute lymphoblastic leukaemia presenting as chronic recurrent multifocal osteomyelitis.","authors":"Devina Singh, Arpita Bhriguvanshi, Chandra Kanta Kumar, Nishant Verma","doi":"10.1136/bcr-2024-264688","DOIUrl":"https://doi.org/10.1136/bcr-2024-264688","url":null,"abstract":"<p><p>A pre-schooler, born out of a non-consanguineous marriage, presented with on-and-off fever for 9 months, fleeting large joint swelling involving multiple joints for 5 months, weakness and pain in different limbs for 5 months, and difficulty in breathing for 2 weeks, 3 months ago. Initial differentials considered were haematogenous osteomyelitis and systemic-onset juvenile idiopathic arthritis. There was no rash, lymphadenopathy or hepatosplenomegaly. The initial bone marrow biopsy showed chronic inflammation and normal haematopoietic cells. The child developed septic arthritis in the right knee during hospitalisation. After excluding malignancy, chronic recurrent multifocal osteomyelitis was diagnosed, and anti-inflammatory medication was prescribed. Subsequently, the child exhibited pancytopenia and hepatosplenomegaly 2 months after hospital stay, and further bone marrow biopsy confirmed acute lymphoblastic leukaemia. This case underscores the importance of maintaining a vigilant approach to leukaemia when children present with musculoskeletal symptoms, as early detection and treatment are crucial for improving outcomes in childhood acute leukaemia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802439","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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