BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-259867
Anna Hayes, Emma McCormick, Mairead McNally
{"title":"Use of indwelling pleural catheter in a patient with refractory left-sided hepatic hydrothorax.","authors":"Anna Hayes, Emma McCormick, Mairead McNally","doi":"10.1136/bcr-2024-259867","DOIUrl":"https://doi.org/10.1136/bcr-2024-259867","url":null,"abstract":"<p><p>A female patient in her mid-50s presented with left-sided effusion in the context of decompensated cirrhosis secondary to alcoholic hepatitis. She had a pre-existing injury to her left hemidiaphragm following a fall 2 years previously, at which point she had also developed a left-sided effusion. The diagnosis of hepatic hydrothorax (HH) was made following pleural fluid aspiration. Recurrent thoracocentesis was not sufficient to manage the effusion and diuretic use was limited by hyponatraemia. An indwelling pleural catheter (IPC) was subsequently inserted to facilitate routine drainage and management in the outpatient setting. To our knowledge, this is the first instance of IPC insertion for HH in Ireland.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662411","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":"DOCK11 deficiency-related immune dysregulation leading to paediatric acute liver failure.","authors":"Varun Kumar, Karunesh Kumar, Nameet Jerath, Anupam Sibal","doi":"10.1136/bcr-2024-263427","DOIUrl":"https://doi.org/10.1136/bcr-2024-263427","url":null,"abstract":"<p><p>Even after a thorough workup, aetiology remains indeterminate in a majority of paediatric acute liver failure cases. Whole exome sequencing (WES) by next-generation sequencing has helped in identifying aetiology in such cases. Autoinflammatory disorders and disorders of immune dysregulation are evolving causes of acute liver failure. Here, we present a case of a young child who presented with acute liver failure and was diagnosed to have DOCK11 deficiency on WES. The child improved with symptomatic treatment. DOCK11 deficiency is a multisystem autoinflammatory disease that may present as acute liver failure.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662326","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}
BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-263667
Prachi Sharma, Anita Muskalska, Beatrice Gallo, Aman Chandra
{"title":"Carlevale intraocular lens opacification after pars plana vitrectomy.","authors":"Prachi Sharma, Anita Muskalska, Beatrice Gallo, Aman Chandra","doi":"10.1136/bcr-2024-263667","DOIUrl":"https://doi.org/10.1136/bcr-2024-263667","url":null,"abstract":"<p><p>We report a case of opacification of a hydrophilic sutureless scleral-fixated Carlevale intraocular lens (IOL) (FIL SSF, Soleko IOL Division) following multiple pars plana vitrectomy surgeries for rhegmatogenous retinal detachments. A patient in his mid-60s underwent Carlevale IOL implantation due to a subluxated posterior chamber IOL and subsequently developed opacification of the Carlevale lens after two additional pars plana vitrectomies for recurrent retinal detachment. This case highlights a rare complication associated with the Carlevale IOL and underscores the potential role of multiple surgeries and gas/silicone oil tamponades in intraocular lens opacification.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662350","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}
BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-262233
Alfred John Balston, Grace Walker, Aaisha Saqib, Paul Carroll
{"title":"Ectopic ACTH syndrome secondary to small-cell oropharyngeal cancer.","authors":"Alfred John Balston, Grace Walker, Aaisha Saqib, Paul Carroll","doi":"10.1136/bcr-2024-262233","DOIUrl":"https://doi.org/10.1136/bcr-2024-262233","url":null,"abstract":"<p><p>A woman in her 80s with known metastatic small-cell oropharyngeal cancer was admitted after a fall. There was proximal limb weakness with hypertension, metabolic alkalosis, hypokalaemia and hyperglycaemia. CT scans revealed progression of her cancer with enlarging liver and lung metastases. Her admission was complicated by delirium and progressive dysphagia relating to her primary oropharyngeal malignancy. Cortisol and adrenocorticotropic hormone (ACTH) were markedly raised and were not suppressed after overnight and high-dose dexamethasone tests. Typical clinical features of Cushing's syndrome were absent. She was diagnosed with ectopic ACTH syndrome secondary to small-cell oropharyngeal cancer. Metyrapone and spironolactone were commenced; however, the patient deteriorated, and a decision was made to prioritise her comfort over escalating treatment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662352","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":"Kawasaki disease complicated with acute focal bacterial nephritis.","authors":"Satoki Hatano, Hiro Nakao, Mitsuru Kubota, Akira Ishiguro","doi":"10.1136/bcr-2024-264586","DOIUrl":"https://doi.org/10.1136/bcr-2024-264586","url":null,"abstract":"<p><p>We report a young child who contracted acute focal bacterial nephritis (AFBN) in the acute phase of Kawasaki disease (KD). She was initially admitted with a diagnosis of KD with pyuria, which was interpreted as one of the findings typically characteristic of KD. Her fever resolved after the first intravenous immunoglobulin (IVIG) treatment. However, her fever recurred and did not respond to the second IVIG. Additional history revealed several episodes of fever of unknown origin and vesicoureteral reflux in her relatives. This led us to re-examine the urinalysis and perform a contrast-enhanced CT, which revealed urinary tract infection and AFBN. This case highlights the importance of careful history-taking and continuously reviewing the differential diagnosis for other potential sources of fever throughout KD treatment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662360","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":"Managing concurrent endometrial stromal sarcoma during pregnancy.","authors":"Sarah Black, Kalpana Ragupathy, Kirsty McNeil, Binita Pande, Jamie Wilson, Caitlin Finnan","doi":"10.1136/bcr-2024-262204","DOIUrl":"https://doi.org/10.1136/bcr-2024-262204","url":null,"abstract":"<p><p>The co-occurrence of endometrial stromal sarcoma and pregnancy is a rarely documented occurrence, leading to a scarcity of comprehensive research and treatment guidelines in the current literature. This case is centred around a low-grade stromal sarcoma in a woman at 15 weeks of gestation. Initially presenting with left iliac fossa pain and elevated inflammatory markers, the diagnosis was suspected to be pyelonephritis, which prompted the initiation of intravenous antibiotics. Persistent symptoms prompted an MRI at 19 weeks' gestation, which revealed a mass expanding into the left internal iliac and left common iliac veins, as well as compression and invasion of the left distal ureter and associated obstructive uropathy to the level of the mass. This case highlights the diagnostic challenges and multidisciplinary management of the patient as well as the justification for supporting her wishes to continue with the pregnancy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662363","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}
BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-263662
Jonah N Chuang, Jun Qin Mo, David D Gonda, Jennifer D Elster
{"title":"Unusual extra-axial high-grade glioma in a young child with Lynch syndrome.","authors":"Jonah N Chuang, Jun Qin Mo, David D Gonda, Jennifer D Elster","doi":"10.1136/bcr-2024-263662","DOIUrl":"https://doi.org/10.1136/bcr-2024-263662","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662410","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}
BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-261704
David Wall, Kristina Nieding, Christian Scheuba, Alexander Haug, Maria Schmook, Florian W Kiefer
{"title":"Postpartum pheochromocytoma crisis associated with cardiogenic shock and Sheehan's syndrome.","authors":"David Wall, Kristina Nieding, Christian Scheuba, Alexander Haug, Maria Schmook, Florian W Kiefer","doi":"10.1136/bcr-2024-261704","DOIUrl":"10.1136/bcr-2024-261704","url":null,"abstract":"<p><p>We report a case of a woman in her mid-30s who developed severe cardiac shock hours after giving birth to her second child with the need for extracorporeal haemodynamic support. Initially, postpartum cardiomyopathy was suspected, and high-urgency heart transplantation was considered. However, the endocrine work-up and imaging revealed pheochromocytoma as the cause for acute heart failure that was completely reversible. Notably, the patient also developed Sheehan's syndrome with pituitary necrosis and sustained hypopituitarism, most likely as a consequence of the haemodynamic failure during pheochromocytoma crisis. While pheochromocytoma crisis is already an extremely rare peripartum complication, the current case is-to the best of our knowledge-the first report of pheochromocytoma associated with Sheehan's syndrome. This case also highlights the clinical conundrum that pheochromocytomas can be easily overlooked in pregnancy due to non-specific symptoms and confusion with pregnancy-related hypertension or hypertension-associated other diseases. Appropriate case detection is important, especially in pregnant women with early onset of hypertension.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662403","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}
BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-262973
Tejaswini Girish, Kawari Sowbhagyalaxmi Ramesh, Sunil Kumar Shetty, Sneha Rao A R
{"title":"Two siblings with tuberous xanthomas: case report.","authors":"Tejaswini Girish, Kawari Sowbhagyalaxmi Ramesh, Sunil Kumar Shetty, Sneha Rao A R","doi":"10.1136/bcr-2024-262973","DOIUrl":"https://doi.org/10.1136/bcr-2024-262973","url":null,"abstract":"<p><p>Tuberous xanthomas, a variety of the broad category of xanthomas, are a result of abnormalities in the lipoprotein metabolism, often familial in nature. These nodular swellings typically arise over the extensor aspect of the body, such as the elbows and the knees. A worrisome entity associated with them is the uncontrolled hyperlipidaemia, especially in young individuals. Here, we present two young brothers with such rare clinical signs and other manifestations of hyperlipidaemia, highlighting that thorough head-to-toe examination with the right set of investigations can aid in the diagnosis and management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662408","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}