BMJ Case ReportsPub Date : 2025-03-19DOI: 10.1136/bcr-2024-264415
Mariya Pogorelova, Can M Sungur
{"title":"Chylous ascites as an initial presentation of lupus nephritis.","authors":"Mariya Pogorelova, Can M Sungur","doi":"10.1136/bcr-2024-264415","DOIUrl":"https://doi.org/10.1136/bcr-2024-264415","url":null,"abstract":"<p><p>We report the case of a man in his 50s who presented with pleural and pericardial effusions, chylous ascites, lymphadenopathy, weight loss and fatigue. Extensive evaluation ruled out malignancy, infection and many autoimmune conditions, but test results were positive for antinuclear antibodies and anti-double-stranded DNA antibodies. A kidney biopsy showed evidence of lupus nephritis (class 5). He ultimately was diagnosed with systemic lupus erythematosus and lupus nephritis. The patient began immunosuppressive treatment, and the manifestations started to resolve. Recognition of systemic lupus erythematosus as the cause of chylous ascites was essential for identifying effective therapy.</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":"143662300","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-2024-264087
Kelly Sulo, James R Cameron, Colleen Nash, Laura M Seske
{"title":"Atypical presentation of pyelonephritis in an infant.","authors":"Kelly Sulo, James R Cameron, Colleen Nash, Laura M Seske","doi":"10.1136/bcr-2024-264087","DOIUrl":"https://doi.org/10.1136/bcr-2024-264087","url":null,"abstract":"<p><p>A male infant born at 28 5/7 gestational weeks with a birth weight of 1180 grams was admitted to the neonatal intensive care unit (NICU) due to prematurity, very low birth weight, and respiratory distress syndrome (RDS). At about three months of life, he remained inpatient while working on oral feeding skills. The infant presented with a gradual onset of consistently elevated blood pressure readings leading to a diagnosis of hypertension. While undergoing evaluation for the aetiology of hypertension, a renal ultrasound with Dopplers demonstrated findings consistent with pyelonephritis. The infant had no clinical manifestations of pyelonephritis. Additionally, an echocardiogram showed reduced cardiac function, likely a result of hypertension. Radiographic signs of pyelonephritis resolved following treatment of the pyelonephritis with antibiotics. An echocardiogram completed after the initiation of antihypertensive medication showed improvement in cardiac function. The infant was discharged home with multispeciality follow-up and is reportedly doing well. Per review of available literature, this is the first reported case of hypertension leading to a diagnosis of pyelonephritis in neonates or young infants.</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":"143662343","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-2024-264114
Felipe Labaki Pavarino, Adriano Carvalho Guimarães, Walter Junior Boim de Araujo
{"title":"Late pulmonary embolism after endovenous laser ablation (EVLA).","authors":"Felipe Labaki Pavarino, Adriano Carvalho Guimarães, Walter Junior Boim de Araujo","doi":"10.1136/bcr-2024-264114","DOIUrl":"https://doi.org/10.1136/bcr-2024-264114","url":null,"abstract":"<p><p>A female patient in her early 40s presented with bilateral great saphenous vein (GSV) incompetence, as identified on duplex ultrasound (DUS), and recurrent leg swelling. The patient underwent endovenous laser ablation for bilateral GSVs with concomitant phlebectomies. She was discharged on the same day without any reported complications and was prescribed prophylactic low-molecular-weight heparin for 1 week. Seven days later, although asymptomatic, the surveillance DUS confirmed bilateral GSV global occlusion.On postoperative day 27, the patient reported sudden-onset dyspnoea, chest pain and presyncope. CT angiography confirmed a pulmonary embolism associated with an area of pulmonary infarction. Further investigation with DUS identified an endothermal heat-induced thrombosis classified as type II.The patient was hospitalised for 3 days on therapeutic doses of anticoagulation. This treatment was maintained after discharge for 6 months and followed over 30 months, without residual symptoms, and additional testing for thrombophilia did not show positive results.</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":"143662361","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-2023-257298
Charlotte Shan Ho, Marta Garcia-Vilaro, Ayman Khaier, Eleni Vrizidou
{"title":"Posterior scleritis mimicking orbital cellulitis in an early adolescent patient.","authors":"Charlotte Shan Ho, Marta Garcia-Vilaro, Ayman Khaier, Eleni Vrizidou","doi":"10.1136/bcr-2023-257298","DOIUrl":"https://doi.org/10.1136/bcr-2023-257298","url":null,"abstract":"<p><p>Posterior scleritis is a rare but potentially sight-threatening condition that commonly causes diagnostic confusion due to its variable and perplexing clinical symptoms and signs. We present a case of posterior scleritis presenting with signs of acute orbital inflammation mimicking orbital cellulitis in an early adolescent female. However, subsequent medical imaging revealed signs of posterior vitritis, serous retinal detachment and scleral thickening. Considering the absence of an infective source and the imaging results, the diagnosis of posterior scleritis was confirmed.</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":"143662402","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-2024-263566
Rinkal Madhudiya, Vimesh Parmar
{"title":"Child with recurrent right periorbital swelling.","authors":"Rinkal Madhudiya, Vimesh Parmar","doi":"10.1136/bcr-2024-263566","DOIUrl":"https://doi.org/10.1136/bcr-2024-263566","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":"143662255","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-2024-263992
Rory Thompson, William Thompson
{"title":"Fracture of a patellar enthesophyte.","authors":"Rory Thompson, William Thompson","doi":"10.1136/bcr-2024-263992","DOIUrl":"https://doi.org/10.1136/bcr-2024-263992","url":null,"abstract":"<p><p>Bone spurs are abnormal projections of bone that include both osteophytes and enthesophytes. They differ anatomically as osteophytes form around the joint line, while enthesophytes form at the insertion sites of tendons or ligaments known as entheses. The authors present a case of fracture through a large enthesophyte at the inferior patellar pole that occurred during eccentric loading of the knee and use this to highlight differences in the fracture patterns of osteophytes, enthesophytes and avulsion fracture at the patella. Diagnosis and management strategies are considered. Enthesophyte fractures should be treated using a conservative management approach focused on increasing range of motion, progressive resistance exercises and eccentric loading, alongside strategies to reduce joint strain.</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":"143662354","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-2024-263587
Ateeb Mahmood Khan, Fateh Ali Tipoo Sultan, Fahad Athar, Shahabuddin Sharfuddin Syed
{"title":"Intravalvular mitral membrane causing severe obstruction at the mitral valve in a young man.","authors":"Ateeb Mahmood Khan, Fateh Ali Tipoo Sultan, Fahad Athar, Shahabuddin Sharfuddin Syed","doi":"10.1136/bcr-2024-263587","DOIUrl":"https://doi.org/10.1136/bcr-2024-263587","url":null,"abstract":"<p><p>A man in his 30s presented with worsening shortness of breath for the last 6 months. He had a history of surgical repair of coarctation of the aorta 15 years ago. Examination revealed a mid-diastolic murmur at the mitral area. On transthoracic echocardiography, there was suspicion of intravalvular mitral membrane causing severe obstruction, which was confirmed on transoesophageal echocardiography and cardiac CT angiography. The patient underwent resection of the intravalvular mitral membrane and replacement of the mitral valve by a mechanical prosthesis. The patient responded well to surgery with resolution of symptoms.</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":"143662358","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-2024-263630
Marco Piergentili, Prachi Sharma, Anugya Agrawal, Vernon Geh
{"title":"Multimodal imaging of bilateral and symmetrical dark without pressure retinal lesions in a child.","authors":"Marco Piergentili, Prachi Sharma, Anugya Agrawal, Vernon Geh","doi":"10.1136/bcr-2024-263630","DOIUrl":"https://doi.org/10.1136/bcr-2024-263630","url":null,"abstract":"<p><p>A girl in her early adolescence was referred to our paediatric clinic due to the presence of bilateral pigmented retinal lesions. The patient complained of photophobia. Best corrected visual acuity was 6/6 in either eye. Fundus examination revealed bilateral symmetrical hyperpigmented, flat, well demarcated lesions in the nasal mid-peripheral retina. Multimodal imaging was performed including retinography, fundus autofluorescence and optical coherence tomography (OCT). OCT showed typical hyporeflectivity of the outer retinal layers (ellipsoid zone and outer photoreceptors) at the transition area between the lesion and normal retina. A diagnosis of dark without pressure (DWP) lesion was made, and the patient was kept under observation. This case report describes bilateral and symmetrical DWP lesions in a paediatric setting associated with photophobia. It is important that clinicians are aware of this clinical entity in order to avoid unnecessary investigations and to reassure patients and their parents accordingly.</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":"143662364","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-2024-262758
Andrew John Lopuch, Joseph Broderick, Serena Murphy
{"title":"Retrorectal tailgut cyst.","authors":"Andrew John Lopuch, Joseph Broderick, Serena Murphy","doi":"10.1136/bcr-2024-262758","DOIUrl":"https://doi.org/10.1136/bcr-2024-262758","url":null,"abstract":"<p><p>Retrorectal tailgut cysts are rare congenital cystic lesions that are found in the presacral space. A case of a woman in her 50s who had an incidental finding of a 7 cm presacral mass after an initial chief concern of flank pain is presented in this report. Further work-up with MRI and colonoscopy demonstrated an extraluminal cystic mass within the retrorectal space with hyperintense foci on T1-weighted imaging. A posterior approach was used to access the retrorectal space and remove the cystic mass. Pathology demonstrated findings consistent with a tailgut cyst, and the patient made a full recovery following the procedure.</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":"143662404","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-2024-263434
Vivi Quoc Nguyen, Louise Kristensen, Henrik Frederiksen
{"title":"Acquired amegakaryocytic thrombocytopaenia after treatment with immune checkpoint inhibitor as part of neoadjuvant treatment in a patient with bilateral breast cancer.","authors":"Vivi Quoc Nguyen, Louise Kristensen, Henrik Frederiksen","doi":"10.1136/bcr-2024-263434","DOIUrl":"https://doi.org/10.1136/bcr-2024-263434","url":null,"abstract":"<p><p>Immune checkpoint inhibitors are a standard treatment for solid metastatic cancer and are now used as neoadjuvant therapy in early triple-negative breast cancer.While haematological immune-related adverse events are known, acquired amegakaryocytic thrombocytopaenia (AAT) is a rare condition characterised by a complete absence of megakaryocytes, leading to severe thrombocytopaenia, with no standardised treatment available.A patient in her early 60s presented with a low platelet count and was initially treated with high-dose methylprednisolone (1 g daily) for suspected immune-mediated thrombocytopaenia, but this was ineffective. A bone marrow biopsy revealed a depletion of megakaryocytes.The treatment was switched to eltrombopag, cyclosporine and tranexamic acid.Despite low platelet levels, the patient successfully underwent bilateral mastectomy with supportive platelet transfusions.Three weeks after starting eltrombopag and cyclosporine, her platelet count returned to normal. AAT in neoadjuvant treatment has not been previously reported, highlighting the need for interdisciplinary collaboration to address these challenges.</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":"143662340","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}