BMJ Case ReportsPub Date : 2025-05-15DOI: 10.1136/bcr-2024-264734
Catarina Távora, Beatriz Fernandes, Hélder Pinheiro, Joana Rodrigues Dos Santos
{"title":"Newly diagnosed heart failure due to Chagas disease cardiomyopathy in a non-endemic area.","authors":"Catarina Távora, Beatriz Fernandes, Hélder Pinheiro, Joana Rodrigues Dos Santos","doi":"10.1136/bcr-2024-264734","DOIUrl":"https://doi.org/10.1136/bcr-2024-264734","url":null,"abstract":"<p><p>A man in his 40s, originally from Brazil, presented to the emergency department with dyspnoea and fatigue with marked limitation in activities of daily living. A transthoracic echocardiogram revealed reduced left ventricular systolic function and an apical thrombus in the left ventricle. Cardiac magnetic resonance confirmed a dilated cardiomyopathy with biventricular involvement and severe left ventricular ejection fraction impairment. Serologic tests (two different methods) were positive for <i>Trypanosoma cruzi</i> immunoglobulin (Ig)G antibody. The patient was discharged on guideline-directed medical therapy for heart failure (HF) and anticoagulation.Chagas disease is a parasitic disease that affects millions in Latin America and became global due to population migration. Cardiac manifestations can develop decades after primary infection. This disease should be considered in patients presenting with HF and ventricular arrhythmias with suggestive epidemiological background and cardiac imaging findings.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085789","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 : 2025-05-15DOI: 10.1136/bcr-2025-266930
Chris Zielinski
{"title":"Ending nuclear weapons, before they end us.","authors":"Chris Zielinski","doi":"10.1136/bcr-2025-266930","DOIUrl":"10.1136/bcr-2025-266930","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075808","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}
{"title":"<i>Macrophomina phaseolina</i> keratitis: treatment approach for poor response to topical natamycin.","authors":"Poornima Tandra, Sanchita Mitra, Bhagyashree Madduri, Shilpa Tarini","doi":"10.1136/bcr-2024-260237","DOIUrl":"https://doi.org/10.1136/bcr-2024-260237","url":null,"abstract":"<p><p>A middle-aged woman presented with left eye redness and pain after trauma with a wooden stick. A greyish white anterior stromal infiltrate with overlying epithelial defect and surrounding pin-head like infiltrates was observed in the left cornea. Corneal scraping showed fungal hyphae on smears and was later identified as <i>Macrophomina phaseolina</i> Despite hourly topical natamycin 5% and oral ketoconazole, the infiltrates progressed in a migrating ring pattern. Voriconazole 1% eye drops were added, along with two intrastromal amphotericin B (5 µg/0.1 mL) injections a week apart, after which response was noted. Natamycin was stopped, and voriconazole monotherapy was continued for a month after its initiation. After 5 months, the infiltrate resolved without recurrence. This case highlights <i>Macrophomina</i> keratitis which mimicked <i>Nocardia</i> and <i>Pythium</i> infections and demonstrates successful treatment with topical voriconazole.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085745","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 : 2025-05-15DOI: 10.1136/bcr-2024-264619
Supriya Sharma, Vaibhav Nagpal, Prajakta Dandekar, Somasheila I Murthy
{"title":"Bilateral topical anaesthetic abuse keratopathy.","authors":"Supriya Sharma, Vaibhav Nagpal, Prajakta Dandekar, Somasheila I Murthy","doi":"10.1136/bcr-2024-264619","DOIUrl":"https://doi.org/10.1136/bcr-2024-264619","url":null,"abstract":"<p><p>A woman in her late 30s presented with severe pain, photophobia and redness in both eyes (BE) for 3 weeks. She was diagnosed and on treatment elsewhere for presumed bilateral herpes simplex virus (HSV) keratitis, with oral antivirals and topical steroids for 4 months. Examination showed bilateral near-total corneal epithelial defects with hypertrophic edges and diffuse stromal oedema. Detailed history uncovered frequent use of topical proparacaine hydrochloride solution (0.5%) for severe pain. She underwent bilateral amniotic membrane transplantation (AMT) with tarsorrhaphy, resulting in rapid epithelialisation of the corneal surface and a gradual decrease in inflammation. She underwent sequential penetrating keratoplasty (PK) for visual restoration after the inflammation subsided completely. Our case highlights the deleterious effects of topical anaesthetic when used frequently. The clinical picture can often be confused with infectious keratitis. As noted in our case, patients commonly withhold a history of its use, which leads to diagnostic delay and vision-threatening complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085750","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 : 2025-05-14DOI: 10.1136/bcr-2024-262898
Kate Corrigan, Darragh Larkin, Margaret Gallagher, Allys Guerandel
{"title":"Managing bipolar affective disorder in chronic kidney disease when lithium is no longer an option.","authors":"Kate Corrigan, Darragh Larkin, Margaret Gallagher, Allys Guerandel","doi":"10.1136/bcr-2024-262898","DOIUrl":"10.1136/bcr-2024-262898","url":null,"abstract":"<p><p>The therapeutic benefits of lithium use in bipolar affective disorder (BPAD) are well established; however, it can cause adverse side effects including chronic kidney disease and progression to end-stage renal disease (ESRD). We describe the cases of two patients with BPAD stable on lithium for many years. In both cases, kidney function declined towards ESRD, prompting cessation of lithium therapy and precipitating a period of mental instability. Concurrent lithium and haemodialysis treatment was successfully trialled in case 2. There is a dearth of guidance on managing those on lithium therapy with kidney disease progressing towards ESRD. We describe the management and outcomes of two such patients attending a community mental health team.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075782","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}
BMJ Case ReportsPub Date : 2025-05-14DOI: 10.1136/bcr-2025-265035
Krisha King Lim, Jerson Jerick Ngo Taguibao, Lorenz Alianne Kirby Cheong Plando, Carmela Augusta Fugoso Dayrit-Castro
{"title":"H syndrome presenting with bilateral cheek enlargement and an <i>SLC29A3</i> gene variant.","authors":"Krisha King Lim, Jerson Jerick Ngo Taguibao, Lorenz Alianne Kirby Cheong Plando, Carmela Augusta Fugoso Dayrit-Castro","doi":"10.1136/bcr-2025-265035","DOIUrl":"10.1136/bcr-2025-265035","url":null,"abstract":"<p><p>An adolescent girl presents with bilateral cheek enlargement, hyperpigmentation and hypertrichosis of the lower extremities with otological, cardiac, endocrine, and hepatosplenic involvement. Clinical findings supplemented by histopathological and wide exome sequencing results led to the diagnosis of H syndrome. The genetic testing showed a homozygous frameshift mutation in the <i>SLC29A3</i> gene involving unique exon and codons. This case highlights the unique characteristics of H syndrome observed in a Filipino female with a variant of the <i>SLC29A3</i> gene mutation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075776","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}
BMJ Case ReportsPub Date : 2025-05-14DOI: 10.1136/bcr-2024-264223
Hasitha Udayakumara, Emmie Stewart-Parker, Osama Shattarah, Johnathan G Hubbard
{"title":"Unexpected sepsis due to Group A beta haemolytic <i>Streptococcus</i> following total thyroidectomy.","authors":"Hasitha Udayakumara, Emmie Stewart-Parker, Osama Shattarah, Johnathan G Hubbard","doi":"10.1136/bcr-2024-264223","DOIUrl":"10.1136/bcr-2024-264223","url":null,"abstract":"<p><p>Thyroidectomy is a clean surgery, with the presentation of postoperative infections being uncommon and an exceedingly rare incidence of postoperative sepsis.A female patient in her early 80s became acutely unwell following total thyroidectomy within the immediate postoperative period, with features suggestive of sepsis. She developed new-onset atrial fibrillation (AF), and her care was escalated to the intensive treatment unit (ITU) on the same day postoperatively. While in the ITU, she deteriorated with multiorgan failure (MOF). There was no evidence of a surgical site infection (SSI).Beta haemolytic lancefield Group A <i>Streptococcus</i> (GAS) was isolated from positive blood cultures, confirming the diagnosis of streptococcal toxic shock syndrome (TSS). She was treated with targeted antibiotics and intravenous immunoglobulin (IG) and received supportive care for MOF.In our case, sepsis developed in the immediate postoperative period of total thyroidectomy. A high index of suspicion and prompt treatment are required to minimise the risks of morbidity and mortality.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075793","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 : 2025-05-13DOI: 10.1136/bcr-2024-260787ret
{"title":"Retraction: Variable expressivity of Malan syndrome.","authors":"","doi":"10.1136/bcr-2024-260787ret","DOIUrl":"https://doi.org/10.1136/bcr-2024-260787ret","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143979041","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 : 2025-05-12DOI: 10.1136/bcr-2023-257508
Sagar Agarwal, Madhurima A Nayak, Shilpa Sood
{"title":"Multimodal imaging in autosomal recessive Stargardt's disease.","authors":"Sagar Agarwal, Madhurima A Nayak, Shilpa Sood","doi":"10.1136/bcr-2023-257508","DOIUrl":"10.1136/bcr-2023-257508","url":null,"abstract":"<p><p>Autosomal recessive Stargardt disease type 1 (STGD-1) is a common inherited retinal disorder caused by mutations in the ABCA4 gene. This case series highlights the role of multimodal imaging (MMI): fundus autofluorescence, optical coherence tomography, optical coherence tomography angiography and fluorescein angiography in diagnosing and staging STGD-1 in three patients with varying disease severities. Imaging revealed characteristic retinal changes, including flecks and atrophic lesions, which were correlated with genotype and clinical presentation. Genotype-phenotype correlation demonstrated the influence of specific ABCA4 mutations on disease severity. MMI proved valuable in detecting subclinical changes, distinguishing disease stages and providing prognostic insights. Genetic analysis remains essential for definitive diagnosis, particularly in atypical presentations. This report emphasises the importance of integrating imaging findings with clinical and genetic data to enhance diagnostic accuracy and patient care, especially in resource-limited settings, where genetic testing may not be readily available.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973816","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}