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Early endomyocardial fibrosis mimicking dilated cardiomyopathy. 模仿扩张型心肌病的早期心内膜纤维化。
IF 0.6
BMJ Case Reports Pub Date : 2024-11-02 DOI: 10.1136/bcr-2024-260069
Joana Ferreira, Tatiana Duarte, Andreia Soares, Sara Gonçalves
{"title":"Early endomyocardial fibrosis mimicking dilated cardiomyopathy.","authors":"Joana Ferreira, Tatiana Duarte, Andreia Soares, Sara Gonçalves","doi":"10.1136/bcr-2024-260069","DOIUrl":"10.1136/bcr-2024-260069","url":null,"abstract":"<p><p>Endomyocardial fibrosis (EMF) is a poorly understood but common cause of heart failure in sub-Saharan Africa, which typically presents with a restrictive phenotype. We describe a previously unreported presentation of EMF with severe left ventricular dilatation and systolic dysfunction, mimicking dilated cardiomyopathy, in which longitudinal and multimodality imaging was crucial for the diagnosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563417","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
Caesarean scar endometriosis: how to make an accurate diagnosis. 剖腹产疤痕子宫内膜异位症：如何做出准确诊断？
IF 0.6
BMJ Case Reports Pub Date : 2024-11-02 DOI: 10.1136/bcr-2024-261053
Senapathige Nilan Kalidasa Rodrigo, Iranthi Kumarasinghe, Eranda Diyagama Gunasekera
{"title":"Caesarean scar endometriosis: how to make an accurate diagnosis.","authors":"Senapathige Nilan Kalidasa Rodrigo, Iranthi Kumarasinghe, Eranda Diyagama Gunasekera","doi":"10.1136/bcr-2024-261053","DOIUrl":"10.1136/bcr-2024-261053","url":null,"abstract":"<p><p>Caesarean scar endometriosis is a rare condition characterised by the presence of endometrial tissue within a surgical scar following a caesarean section. A woman in her late 30s presented with a painful lump beneath her caesarean section skin scar, worsening during menstruation. Despite a previous incision and drainage procedure for a 'scar abscess', the symptoms persisted. Ultrasound imaging revealed a cystic lesion beneath the scar. A diagnosis of scar endometriosis was made, and surgical excision was performed. The patient remained symptom-free at 2-year follow-up postsurgery. Histopathology confirmed the presence of endometrial glands and stroma within the scar tissue. This case demonstrates that a reliable diagnosis of caesarean section endometriosis could be made with a triad of symptoms of a cyclic painful mass at the site of a caesarean section scar. Imaging is helpful in excluding other differential diagnoses. Diagnosis can be confirmed with histopathology and treated with complete surgical excision.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563415","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
Von Hippel-Lindau disease with ocular and multiple systemic findings. Von Hippel-Lindau（冯-希佩尔-林道）病，伴有眼部和多系统症状。
IF 0.6
BMJ Case Reports Pub Date : 2024-11-02 DOI: 10.1136/bcr-2024-262053
Bhupinderjeet Singh, Reena Kumari, Dinesh Kumar Bhagat, Deeksha Bhatia
{"title":"Von Hippel-Lindau disease with ocular and multiple systemic findings.","authors":"Bhupinderjeet Singh, Reena Kumari, Dinesh Kumar Bhagat, Deeksha Bhatia","doi":"10.1136/bcr-2024-262053","DOIUrl":"10.1136/bcr-2024-262053","url":null,"abstract":"<p><p>Von Hippel-Lindau is a rare genetic disease that is inherited as an autosomal dominant pattern. Characteristics of this disease include multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age with retinal haemangioblastomas as one of the earliest manifestations. The gold-standard investigation for cerebral haemangioblastomas is MRI or cerebral CT and for retinal haemangioblastomas is fluorescein angiography. We present the case of a woman in her late 30s who reported a primary concern of diminished vision in both eyes for the past 6 months. Fundus examination revealed blurred disc margins, optic nerve head haemangioblastomas and peripheral retinal haemangioblastomas in both eyes. Blood investigations showed polycythaemia. A 24-hour urine protein report showed increased levels. MRI showed multiple cystic lesions in the posterior fossa, on the right optic nerve in the optic canal, multiple cortical cysts in both kidneys and a soft tissue space-occupying lesion.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11557478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563552","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
Refractory status epilepticus seen in the early phase of sporadic Creutzfeldt-Jakob disease. 散发性克雅氏病早期出现的难治性癫痫状态。
IF 0.6
BMJ Case Reports Pub Date : 2024-11-02 DOI: 10.1136/bcr-2024-262227
Faraaz Ahmed, Tharuka Milinda Herath, Harini Samarasinghe, Kannan Nithi
{"title":"Refractory status epilepticus seen in the early phase of sporadic Creutzfeldt-Jakob disease.","authors":"Faraaz Ahmed, Tharuka Milinda Herath, Harini Samarasinghe, Kannan Nithi","doi":"10.1136/bcr-2024-262227","DOIUrl":"10.1136/bcr-2024-262227","url":null,"abstract":"<p><p>A male patient in his 60s presented with subacute-onset progressively worsening encephalopathy, myoclonus, paranoia, behavioural changes, confusion and cognitive decline, all on a background of paranoid schizophrenia. Extensive investigations, including blood tests and cerebrospinal fluid analysis, were inconclusive. MRI of the brain demonstrated cortical ribboning, with high signals noted in the caudate nucleus and internal capsule bilaterally on T2/fluid-attenuated inversion recovery and diffusion-weighted imaging. Electroencephalogram identified widespread sharp wave discharges consistent with status epilepticus.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563454","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
Bilateral forearm compartment syndrome in a patient with recently diagnosed chronic myeloid leukaemia. 一名新近确诊的慢性髓性白血病患者的双侧前臂室间隔综合征。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-31 DOI: 10.1136/bcr-2024-261107
Kate Rebecca Quinn, Paul Defty-Wallace, George Joseph Michael Hourston, Jonathan Crosby
{"title":"Bilateral forearm compartment syndrome in a patient with recently diagnosed chronic myeloid leukaemia.","authors":"Kate Rebecca Quinn, Paul Defty-Wallace, George Joseph Michael Hourston, Jonathan Crosby","doi":"10.1136/bcr-2024-261107","DOIUrl":"https://doi.org/10.1136/bcr-2024-261107","url":null,"abstract":"<p><p>Compartment syndrome is a limb-threatening surgical emergency that typically occurs unilaterally in the lower leg after trauma. It often occurs within hours of injury but can occur up to 48 hours or even several days later. We report the case of a male patient in his late 70s presenting with subacute, atraumatic, bilateral forearm compartment syndrome. The patient had commenced treatment for newly diagnosed chronic myeloid leukaemia and had in addition recently started a course of rivaroxaban for suspected deep venous thrombosis 3 weeks prior. The patient presented with bilateral upper limb swelling, skin discolouration, progressive pain and dysfunction. Emergency bilateral multicompartmental forearm fasciotomy was performed for limb preservation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563409","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
Right ventricle myxoma: an uncommon occurrence. 右心室肌瘤：一种不常见的疾病。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-31 DOI: 10.1136/bcr-2024-260681
Moosa Ahmed Shaikh, Dalia Ahmed, Neelaveni Duhli, Claudette Phillips
{"title":"Right ventricle myxoma: an uncommon occurrence.","authors":"Moosa Ahmed Shaikh, Dalia Ahmed, Neelaveni Duhli, Claudette Phillips","doi":"10.1136/bcr-2024-260681","DOIUrl":"https://doi.org/10.1136/bcr-2024-260681","url":null,"abstract":"<p><p>Cardiac tumours are often an incidental finding; when they do cause symptoms, they can be systemic (pyrexia and fatigue), cardiac (arrhythmia, chest pain and obstructive) or embolic (stroke, pulmonary embolism (PE) and peripheral embolism). Different cardiac tumours have a higher prevalence in children when compared with adults, and each type of tumour has a predisposition for specific aspects of the heart. With current imaging modalities, it is possible to identify the location, haemodynamic impact and tissue characteristics of tumours, which can help diagnose the type of lesion and guide further management. This case is of an atypical appearance of a right ventricular mass, which was found incidentally following presentation with PE. The patient underwent successful surgical resection of the mass, which was identified as a myxoma. The patient is on imaging surveillance to monitor for recurrence. The case demonstrates the strengths and weaknesses of different imaging modalities, highlighting the importance of a multimodality approach to guide a diagnosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563414","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
Folliculotropic mycosis fungoides with leukaemic involvement in middle childhood: a rare encounter. 儿童中期伴有白血病的毛囊真菌病：罕见病例。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-31 DOI: 10.1136/bcr-2024-259868
Preeti Tripathi, Niharika Mishra, Sanjeev Khera, Rajiv Kumar
{"title":"Folliculotropic mycosis fungoides with leukaemic involvement in middle childhood: a rare encounter.","authors":"Preeti Tripathi, Niharika Mishra, Sanjeev Khera, Rajiv Kumar","doi":"10.1136/bcr-2024-259868","DOIUrl":"https://doi.org/10.1136/bcr-2024-259868","url":null,"abstract":"<p><p>Mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma in adults. However, it is rare in middle childhood. Such cases usually present with hypopigmented patches that may mimic common childhood dermatoses, thereby causing a delay in the diagnosis. Sezary syndrome is a rare and aggressive leukaemic variant of cutaneous lymphoma. We report a patient in middle childhood who presented with recurring non-specific folliculotropic manifestations. The final diagnosis of MF was arrived at after excluding all other possible dermatoses. Within a few months of skin manifestations, our index child was found to have blood involvement with similar clonal T-lymphoid cells. Such rapid development of Sezary syndrome within months of cutaneous presentation has never been described. There are no established treatment guidelines for the same in paediatric population. The patient underwent a matched sibling allogeneic transplant after a course of topical steroids and skin electron beam therapy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563412","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
Concurrent sarcoidosis and metastatic lung cancer in a patient with ring-enhancing brain lesions. 一名脑部环形强化病变患者同时患有肉样瘤病和转移性肺癌。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-30 DOI: 10.1136/bcr-2024-260212
Mariam Ardehali, Nicole Dussault, John Howe, Saumil Chudgar
{"title":"Concurrent sarcoidosis and metastatic lung cancer in a patient with ring-enhancing brain lesions.","authors":"Mariam Ardehali, Nicole Dussault, John Howe, Saumil Chudgar","doi":"10.1136/bcr-2024-260212","DOIUrl":"https://doi.org/10.1136/bcr-2024-260212","url":null,"abstract":"<p><p>This case discusses a male in his 40s with no prior medical history who presented to the emergency room with headaches and blurred vision and was found to have ring-enhancing lesions on brain MRI. Chest imaging revealed bilateral pulmonary nodules with a dominant right upper lobe nodule. On lung tissue sampling, he was found to have concurrent sarcoidosis and non-small cell lung cancer. Initial brain biopsy showed non-specific vascular lesions and inflammation which were initially thought secondary to sarcoidosis since there was no evidence of malignancy. However, given the importance of a definitive diagnosis to establish prognosis, repeat brain biopsy was pursued, which confirmed metastatic lung cancer. This case demonstrates the benefits of repeat biopsy in situations where clinical suspicion for malignancy is high, as well as the possibility for multiple concurrent diagnoses in a patient. The patient is currently undergoing stereotactic radiosurgery and chemotherapy with carboplatin, pemetrexed and pembrolizumab.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543636","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
Endotracheal hamartoma causing persistent dyspnoea after coronary artery bypass grafting. 气管内火腿肠瘤导致冠状动脉旁路移植术后持续呼吸困难。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-30 DOI: 10.1136/bcr-2024-259847
Sujay R Kamisetty, Akshay Mathavan, Joshua Thomas, Akash Mathavan
{"title":"Endotracheal hamartoma causing persistent dyspnoea after coronary artery bypass grafting.","authors":"Sujay R Kamisetty, Akshay Mathavan, Joshua Thomas, Akash Mathavan","doi":"10.1136/bcr-2024-259847","DOIUrl":"10.1136/bcr-2024-259847","url":null,"abstract":"<p><p>Pulmonary hamartomas are abnormal growths of mature cell or tissue types, including cartilage, epithelium, fat or muscle. Although most cases are benign, asymptomatic and often incidentally discovered, these masses may provoke significant complications via predisposition to obstruction, ischaemia or infection. Pulmonary hamartomas located within the tracheal lumen are exceedingly rare clinical entities which produce symptoms of dyspnoea, cough, stridor, wheezing or angina. Significant clinical consequences include airway obstruction and cardiovascular collapse. Most cases of tracheal hamartoma are initially diagnosed as obstructive pulmonary disease. We present a structured case report of a tracheal hamartoma identified in a patient with recent coronary artery bypass grafting who was initially evaluated for persistent ischaemic pathology, resulting in delay of diagnosis. By review of limited literature of this disorder, we emphasise the need for clinicians to be aware of this indolent and rare entity.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11557453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543637","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
Chronic myelomonocytic leukaemia causing orbital inflammation. 慢性粒单核细胞白血病引发眼眶炎症。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-30 DOI: 10.1136/bcr-2023-258203
Robert McGrath, Michael Fay, Lisa McAnena
{"title":"Chronic myelomonocytic leukaemia causing orbital inflammation.","authors":"Robert McGrath, Michael Fay, Lisa McAnena","doi":"10.1136/bcr-2023-258203","DOIUrl":"https://doi.org/10.1136/bcr-2023-258203","url":null,"abstract":"<p><p>We present a case of acute-onset orbital inflammation with rapidly progressive proptosis, episcleral venous stasis with raised intraocular pressure and loss of vision in a patient with a recent diagnosis of chronic myelomonocytic leukaemia (CMML). The patient's orbital inflammation and ocular hypertension showed no response to topical and systemic pressure-lowering agents and non-steroidal anti-inflammatory agents but resolved rapidly after the commencement of intravenous steroids. The patient was subsequently treated with the hypomethylating agent azacitidine with good systemic control of CMML with no further orbital inflammation. CMML is strongly associated with systemic inflammatory disease, possibly due to the upregulation of inflammatory pathways in the abnormal monocytes. CMML is a rare cause of orbital or ocular inflammation but should be considered in patients with persistent monocytosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543635","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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