BMJ Case ReportsPub Date : 2025-02-08DOI: 10.1136/bcr-2024-261109
Stefan Sicinschi, Morni Modi, Kalgi Modi
{"title":"Left ventricular outflow track to left atrium fistula: a complication of enterococcal endocarditis and long-term outcome.","authors":"Stefan Sicinschi, Morni Modi, Kalgi Modi","doi":"10.1136/bcr-2024-261109","DOIUrl":"https://doi.org/10.1136/bcr-2024-261109","url":null,"abstract":"<p><p>We describe a rare complication of <i>Enterococcus faecalis</i> infective aortic valve endocarditis with flail and perforated aortic valve leaflets causing torrential regurgitation, followed by secondary infection of the sub and supra-aortic structures causing cystic abscess of mitral aortic intervalvular fibrosa and pseudoaneurysm of the aorta. The mitral valve cystic abscess ruptured and caused a fistulous connection between the left ventricular outflow tract and the left atrium. The patient underwent surgical replacement of the aortic valve, repair of the mitral aortic fibrosa and repair of the aortic pseudoaneurysm. The persistent mitral valve fistula was treated with a conservative approach.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373769","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 : 2025-02-08DOI: 10.1136/bcr-2024-261916
Marie Vallélian, André Juillerat, Matea Sunic, Claudio Schneider, Sylvain Boet
{"title":"Two cases of highly concentrated hydrogen peroxide poisoning with portal venous gas treated using hyperbaric oxygen therapy.","authors":"Marie Vallélian, André Juillerat, Matea Sunic, Claudio Schneider, Sylvain Boet","doi":"10.1136/bcr-2024-261916","DOIUrl":"https://doi.org/10.1136/bcr-2024-261916","url":null,"abstract":"<p><p>Hydrogen peroxide poisoning is a rare but potentially severe poisoning that can cause digestive tract irritation and/or gas embolism when ingested. The clinical presentation varies from asymptomatic patients to severe embolic consequences or even death. There is little evidence on the treatment of such poisoning to guide physicians in caring for these patients. This paper reports on two cases of highly concentrated hydrogen peroxide poisoning after accidental ingestion. Both patients showed evidence of portal venous gas, with one patient exhibiting significant symptoms while the other did not. Both were treated with hyperbaric oxygen therapy (HBOT), with a follow-up CT scan revealing a complete resolution of the portal venous gas. This suggests that HBOT is effective for both symptomatic and asymptomatic patients with portal venous gas and should be considered as an effective treatment option in cases of highly concentrated hydrogen peroxide poisoning.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373772","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 : 2025-02-08DOI: 10.1136/bcr-2024-260976
Daming Shao, Sadikshya Ghimire, Nichelle Simmons, Yan Zhang
{"title":"Recurrent chylothorax in a patient with serositis as the only manifestation of IgG4-related disease: the diagnostic challenge and consideration.","authors":"Daming Shao, Sadikshya Ghimire, Nichelle Simmons, Yan Zhang","doi":"10.1136/bcr-2024-260976","DOIUrl":"https://doi.org/10.1136/bcr-2024-260976","url":null,"abstract":"<p><p>IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory disorder characterised by IgG4-positive plasma cell infiltration into different tissues and organs. Among the heterogeneous clinical features of IgG4-RD, serositis, including pleural and pericardial effusions, is a rare and poorly understood presentation. We described a woman in her late 70s who developed recurrent chylothorax and failed to respond to corticosteroids, immunosuppressives and intrapleural octreotide injection while being treated for newly diagnosed IgG4-RD with serositis as the only manifestation. Her chylothorax was thought to be due to fibroinflammatory damage of the lymphatic duct system from her IgG4-RD, as other differential diagnoses have been largely excluded. We demonstrate the difficulty in establishing the diagnosis of IgG4-RD when only serositis is present, the importance of meticulous workup ruling out other causes and clinical judgement in identifying disease complications versus evaluating alternative diagnoses.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373771","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 : 2025-02-05DOI: 10.1136/bcr-2024-263122
Ashton Robinson, Sheena Khan, Sachin Shenoy
{"title":"Inadequate perinatal asthma control resulting in status asthmaticus requiring ECMO.","authors":"Ashton Robinson, Sheena Khan, Sachin Shenoy","doi":"10.1136/bcr-2024-263122","DOIUrl":"https://doi.org/10.1136/bcr-2024-263122","url":null,"abstract":"<p><p>A case of severe asthma in pregnancy necessitating extracorporeal membrane oxygenation and early delivery due to severe intrauterine growth restriction. This case documents the development, management and consequences of status asthmaticus in a pregnant patient with poorly controlled severe asthma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363241","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 : 2025-02-05DOI: 10.1136/bcr-2024-262767
Allison Lin, Stephanie J Chan, John P Crapanzano, Eric J Kuo
{"title":"Severe hypokalaemia in primary aldosteronism during pregnancy.","authors":"Allison Lin, Stephanie J Chan, John P Crapanzano, Eric J Kuo","doi":"10.1136/bcr-2024-262767","DOIUrl":"https://doi.org/10.1136/bcr-2024-262767","url":null,"abstract":"<p><p>Primary aldosteronism (PA) is rarely seen in pregnancy despite being a common cause of secondary hypertension. Spironolactone, the first-line treatment, is contraindicated in pregnancy due to potential anti-androgenic effects; treatment options are thus limited. We present a case in which severe hypokalaemia associated with PA was discovered during pregnancy. Eplerenone was used as a short-term treatment without adverse effects to the fetus before unilateral laparoscopic adrenalectomy was performed in the second trimester after the patient was refractory to medical treatment. This case report adds to the limited literature on management of PA in pregnancy, which could influence future risk-benefit discussions regarding surgical versus medical management of this condition.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363414","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 : 2025-02-05DOI: 10.1136/bcr-2024-262200
Attam Khan, Dimple Jain
{"title":"Fish Tank-Associated <i>Mycobacterium Marinum</i> Infection in an Immunocompromised Host.","authors":"Attam Khan, Dimple Jain","doi":"10.1136/bcr-2024-262200","DOIUrl":"https://doi.org/10.1136/bcr-2024-262200","url":null,"abstract":"<p><p><i>Mycobacterium marinum</i> infection can be challenging to diagnose and treat, especially in immunocompromised patients on tumour necrosis factor alpha inhibitors. A patient with collagenous colitis on infliximab presented with ulcerated plaques accompanied by nodules in a sporotrichoid fashion. Initial treatments failed until a biopsy confirmed <i>M. marinum</i> Multiple antibiotic regimens, including rifampicin and ciprofloxacin, were required due to resistance. The case underscores the importance of patient education on avoiding aquatic environments, considering atypical mycobacterial infections in differentials for immunocompromised patients with sporotrichoid lesions, and prioritising urgent diagnostic biopsies. Treatment can be lengthy, often requiring up to 12 months, emphasising the need for ongoing patient counselling and multidisciplinary management. Current guidelines recommend a combination of ethambutol and macrolides, though further research is necessary to optimise treatment protocols.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363634","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":"Spontaneous subdural haematoma secondary to undiagnosed metastatic gastric adenocarcinoma.","authors":"Toshiaki Takahashi, Landon Kozai, Sharina Macapagal, Yoshito Nishimura","doi":"10.1136/bcr-2024-263649","DOIUrl":"https://doi.org/10.1136/bcr-2024-263649","url":null,"abstract":"<p><p>A man in his 80s presented with 3 weeks of lower back pain, generalised weakness, poor appetite and intermittent melena, without genitourinary symptoms or recent trauma. CT showed an old L1 compression fracture and new sclerotic lesions in the L3 and L4 vertebrae, as well as mildly enlarged abdominal lymph nodes. 3 days later, he returned to the emergency department with worsening symptoms, including new left hemiparesis. A head CT revealed a right subdural haematoma (SDH) with a midline shift. Despite treatment for disseminated intravascular coagulation, the patient's condition deteriorated, leading to a suspicion of spontaneous intracranial hypotension. An autopsy revealed disseminated metastatic adenocarcinoma with dura and leptomeningeal metastases, ultimately causing spontaneous SDH and subsequent transtentorial herniation. This case highlights the impact of anchoring bias in clinical decision-making and the importance of early recognition of underlying malignancy as the aetiology of spontaneous SDH in patients presenting with signs and symptoms of metastatic cancer.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363416","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":"Combined chylothorax and chylopericardium: a complication of central venous catheter-related thrombosis.","authors":"Sasathorn Tharapoom, Kritsada Luangrungruang, Pornprapa Chindamporn","doi":"10.1136/bcr-2024-263981","DOIUrl":"https://doi.org/10.1136/bcr-2024-263981","url":null,"abstract":"<p><p>Central venous catheter-related thrombosis can lead to the concurrent occurrence of chylothorax and chylopericardium. This article reports a case of end-stage kidney disease with long-term dialysis catheter use, resulting in central vein stenosis and the rare complication of combined chylothorax and chylopericardium.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363631","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 : 2025-02-05DOI: 10.1136/bcr-2024-260530
Natalie Friedova, Alice Baxova, Antonin Sipek, Frantisek Liska
{"title":"Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.","authors":"Natalie Friedova, Alice Baxova, Antonin Sipek, Frantisek Liska","doi":"10.1136/bcr-2024-260530","DOIUrl":"https://doi.org/10.1136/bcr-2024-260530","url":null,"abstract":"<p><p>Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is a rare condition defined by the occurrence of progressive diffuse hyperostosis of cranial bones and abnormal metaphyseal widening of the tubular bones. <i>ANKH</i> is known to be the only gene associated with AD-CMD. We present a case of a toddler boy with macrodolichocephaly, asymmetry of the skull, wide bulging forehead, gingival hypertrophy and irregular teeth. Physical examination, X-ray and DNA analysis were performed. All exons and flanking intron regions of <i>ANKH</i> were amplified by PCR and directly sequenced using the Sanger method. X-ray images showed diffuse osteosclerosis in the area of facial skeleton and skull base. Limbs exhibited club-shaped enlargement of the distal metaphysis of the femur and the proximal metaphysis of the tibia were described. The DNA analysis showed that the patient is a heterozygous carrier of the known pathogenic in-frame deletion (rs121908406; <i>ANKH</i>:c.1122-4delCTC, p.Ser375del), which has already been described in patients with AD-CMD.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363638","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}