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Massive parapneumonic effusion leading to hypercapnic respiratory failure in a patient with Legionella pneumophila infection.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-264155
Liam Allan, Stephen Thomas
{"title":"Massive parapneumonic effusion leading to hypercapnic respiratory failure in a patient with <i>Legionella pneumophila</i> infection.","authors":"Liam Allan, Stephen Thomas","doi":"10.1136/bcr-2024-264155","DOIUrl":"https://doi.org/10.1136/bcr-2024-264155","url":null,"abstract":"<p><p>We present a case of a patient who was successfully treated for a critical illness involving a large parapneumonic effusion and hypercapnic respiratory failure secondary to infection with <i>Legionella pneumophila</i> This pathogen is thought to have originated from a commercially available mushroom growing kit.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439797","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
Perforated peptic ulcer disease as the initial presentation of previously unknown multiple myeloma and sickle cell anaemia.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-261990
Matthew Ross Gowell, Ahrin Anna Morrow
{"title":"Perforated peptic ulcer disease as the initial presentation of previously unknown multiple myeloma and sickle cell anaemia.","authors":"Matthew Ross Gowell, Ahrin Anna Morrow","doi":"10.1136/bcr-2024-261990","DOIUrl":"https://doi.org/10.1136/bcr-2024-261990","url":null,"abstract":"<p><p>Peptic ulcer disease (PUD) is a common cause of abdominal pain which can present acutely with gastrointestinal perforation. This report presents an exceptionally rare case of a patient whose presentation of perforated PUD heralded a new diagnosis of both multiple myeloma and sickle cell disease (SCD). Histological analysis of the ulcer tissue, following omental patch repair, did not demonstrate features of extramedullary myeloma or amyloid light chain deposition, two pathologies traditionally thought to drive PUD in this patient group. Instead, we suggest malignant hypercalcaemia stimulating gastric acid secretion, in combination with mucosal ischaemia caused by SCD, may have led to gastric mucosal erosion. This case underscores the diagnostic challenges in managing patients with complex comorbidities and the need to consider atypical causes of PUD in the workup of this patient group.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439799","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
Primary mediastinal T-ALL presenting with superior vena cava syndrome.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-264162
Alison Gibbons, Emmanuel Tito, Justin Baik, Ines Kafando
{"title":"Primary mediastinal T-ALL presenting with superior vena cava syndrome.","authors":"Alison Gibbons, Emmanuel Tito, Justin Baik, Ines Kafando","doi":"10.1136/bcr-2024-264162","DOIUrl":"https://doi.org/10.1136/bcr-2024-264162","url":null,"abstract":"<p><p>Superior vena cava syndrome (SVCS) is a rare but serious condition typically associated with malignancy. While lung cancer and lymphoma are common causes, less frequent aetiologies can present a diagnostic challenge. We report a case of a young adult female who presented with classical symptoms of SVCS, including facial oedema, neck vein distention and dyspnoea. Diagnostic workup revealed a large mediastinal mass, which was subsequently confirmed as T cell acute lymphoblastic leukaemia (T-ALL) on biopsy. This case highlights the importance of considering T-ALL in the differential diagnosis of SVCS, particularly in younger individuals without traditional risk factors. Early recognition and prompt initiation of appropriate therapy, including chemotherapy and potentially radiation therapy, are crucial for optimal patient outcomes. This case underscores the need for a high index of suspicion for rare malignancies, even in the context of common presentations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439801","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
Management of multiorgan failure caused by immune checkpoint inhibitor toxicity.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-262209
Tushita Verma, Altamash Jawadi, Shozab Ahmed
{"title":"Management of multiorgan failure caused by immune checkpoint inhibitor toxicity.","authors":"Tushita Verma, Altamash Jawadi, Shozab Ahmed","doi":"10.1136/bcr-2024-262209","DOIUrl":"https://doi.org/10.1136/bcr-2024-262209","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICIs) block inhibitory pathways that tumour cells exploit to evade the immune system. They play a key role in the management of aggressive cancers, including non-small cell lung cancer, melanoma and Hodgkin's lymphoma. Despite their efficacy, ICIs can cause severe, potentially fatal, immune-related adverse events (irAEs), including multiorgan failure. We present a case of a woman in her early 70s with metastatic lung adenocarcinoma recently initiated on pembrolizumab who presented with an acute stroke complicated by irAE-related multiorgan failure. Despite aggressive treatment, the patient remained critically ill and passed away the same day after transitioning to end-of-life care. This case emphasises the life-threatening potential of irAEs, the importance of early diagnosis and the challenges of managing these complications. Clinicians should maintain a high index of suspicion for irAEs in ICI-treated patients to optimise timely intervention and outcomes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439795","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
Atypical presentation of amyotrophic lateral sclerosis with SOD1-H47R mutation.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-263293
Vaishnavi Aryapadi, Jaya Trivedi
{"title":"Atypical presentation of amyotrophic lateral sclerosis with <i>SOD1</i>-H47R mutation.","authors":"Vaishnavi Aryapadi, Jaya Trivedi","doi":"10.1136/bcr-2024-263293","DOIUrl":"https://doi.org/10.1136/bcr-2024-263293","url":null,"abstract":"<p><p>Traditionally, amyotrophic lateral sclerosis (ALS) is recognised as a fatal neurodegenerative disease that typically emerges in the later decades of life, with a life expectancy of 2-5 years after symptom onset. We now understand that ALS exhibits a wide phenotypic clinical spectrum, significantly influenced by genetic factors. Here, we describe a patient with familial ALS carrying a heterozygous pathogenic H47R mutation of the superoxide dismutase 1 (<i>SOD1</i>) gene. His clinical presentation is atypical, with a slow progressive course, lower extremity weakness, and sparing of bulbar and respiratory function, consistent with the flail leg variant of ALS. The objective of this report is to increase awareness of atypical presentations of ALS and the diagnostic challenges they pose to clinicians. In addition to a description of the clinical case, we briefly discuss the new role of gene therapy in the treatment of familial ALS with <i>SOD1</i> mutations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439540","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
Hypokalaemic quadriparesis due to distal renal tubular acidosis unmasking underlying Sjögren's disease.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-261480
Bryan Koithara, Prachee Makashir
{"title":"Hypokalaemic quadriparesis due to distal renal tubular acidosis unmasking underlying Sjögren's disease.","authors":"Bryan Koithara, Prachee Makashir","doi":"10.1136/bcr-2024-261480","DOIUrl":"https://doi.org/10.1136/bcr-2024-261480","url":null,"abstract":"<p><p>We report the case of a female in her 40s who presented to our emergency department with acute weakness in all limbs for 1 day. Clinical examination alongside point-of-care investigations confirmed acute areflexic flaccid quadriparesis due to severe hypokalaemia. She was found to have distal renal tubular acidosis on further investigation. A detailed clinical history and judicious use of laboratory diagnostic services systematically ruled out idiopathic cause of distal renal tubular acidosis. Neglected sicca symptoms were retrospectively unearthed after a positive Schirmer's test. A diagnosis of Sjögren's disease was considered after initial auto-immune screening. Subsequent definitive serology tested positive for anti-Sjogren's syndrome-associated antigens A (SS-A) and B (SS-B). This case is distinct in that the presenting symptom of Sjögren's disease was acute areflexic quadriparesis. We hope to highlight Sjögren's disease as a likely differential for seemingly idiopathic renal tubular acidosis even in the absence of overt sicca symptoms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439792","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
Cardiac stress in a child with perioperative anaphylaxis.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-17 DOI: 10.1136/bcr-2024-262614
Vibha Sharma, Andrew Parkes, Jacques Diacono, Sophia Khan
{"title":"Cardiac stress in a child with perioperative anaphylaxis.","authors":"Vibha Sharma, Andrew Parkes, Jacques Diacono, Sophia Khan","doi":"10.1136/bcr-2024-262614","DOIUrl":"https://doi.org/10.1136/bcr-2024-262614","url":null,"abstract":"<p><p>A case of cardiac stress following a grade 4 perioperative anaphylaxis was identified. We speculate that this may be a case of Kounis or adrenaline, takotsubo, anaphylaxis and Kounis (ATAK) complex. This is the first such case reported from the UK. We propose performing routine cardiac investigations in patients with grade 4 anaphylaxis or chest pain following anaphylaxis to evaluate any similar future presentations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439632","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
How can we best manage ovarian sebaceous carcinomas arising from mature cystic teratomas?
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-264651
Hong Min Shaye Peng, Sung Hock Chew, Yang Huang Grace Ng, Felicia Hui Xian Chin
{"title":"How can we best manage ovarian sebaceous carcinomas arising from mature cystic teratomas?","authors":"Hong Min Shaye Peng, Sung Hock Chew, Yang Huang Grace Ng, Felicia Hui Xian Chin","doi":"10.1136/bcr-2024-264651","DOIUrl":"https://doi.org/10.1136/bcr-2024-264651","url":null,"abstract":"<p><p>Sebaceous carcinoma arising from ovarian mature cystic teratomas (MCTs) is exceedingly rare, with only 19 cases reported in the literature. We present a novel case of a woman in her 60s who experienced lower abdominal pain and a large pelvic mass. She underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, lymph node dissection, omentectomy and peritoneal washings. Intraoperative frozen section analysis confirmed a malignant tumour, favouring squamous cell carcinoma, possibly arising from an MCT. Postoperative recovery was uneventful, and she remains disease free after 28 months.Our review revealed that most cases presented at early International Federation of Gynecology and Obstetrics (FIGO) stages (70%), with unilateral tumours averaging 16.7 cm. Surgery was the mainstay of treatment, with salpingo-oophorectomy performed universally. Adjuvant chemotherapy was infrequent (20%), and mismatch repair deficiency was noted in 57.1% of tested cases. The median disease-free interval was 19 months. This case underscores the rarity of sebaceous carcinoma in MCTs and highlights the critical need for further research to establish evidence-based guidelines for optimal management and prognosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432592","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
Necrotising fasciitis post-trauma.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-262615
Maria Infant Majula Shifani Mahendran, Vinoj Gopalakrishnan, Vaijayanthi Saravanan, Rajan Vaithianathan
{"title":"Necrotising fasciitis post-trauma.","authors":"Maria Infant Majula Shifani Mahendran, Vinoj Gopalakrishnan, Vaijayanthi Saravanan, Rajan Vaithianathan","doi":"10.1136/bcr-2024-262615","DOIUrl":"https://doi.org/10.1136/bcr-2024-262615","url":null,"abstract":"<p><p>The case involves a man in his 30s, otherwise healthy, who developed necrotising fasciitis (NF) after a minor injury. He presented with severe symptoms including intense pain, swelling and fever, which led to a rapid diagnosis confirmed through clinical evaluation and imaging. Immediate surgical intervention was performed to debride the affected tissue, and broad-spectrum antibiotics were administered to address the infection. The patient achieved full recovery within 2 weeks without complications, highlighting the crucial role of early diagnosis and aggressive treatment in managing NF effectively.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432596","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
Unravelling complexity: simultaneous detection of fetal omphalocele and myelomeningocele misdiagnosed as sacrococcygeal teratoma.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-261880
Srishti Singh, Anil Rawat, Shubhi Agarwal, Daljeet Kaur
{"title":"Unravelling complexity: simultaneous detection of fetal omphalocele and myelomeningocele misdiagnosed as sacrococcygeal teratoma.","authors":"Srishti Singh, Anil Rawat, Shubhi Agarwal, Daljeet Kaur","doi":"10.1136/bcr-2024-261880","DOIUrl":"https://doi.org/10.1136/bcr-2024-261880","url":null,"abstract":"<p><p>Targeted imaging for fetal anomalies (TIFFA) is an important antenatal ultrasound scan to detect any congenital anomalies in the growing fetus, and the results assist the clinician to make the required decision for the remainder of pregnancy. The scan totally depends on the operator and his/her skills to pick up an abnormality correctly. If the ultrasound scan is not performed accurately with proper precision and focus, then many anomalies can be missed or even misdiagnosed potentially. Therefore, it is pertinent to pay specific attention to details and devote a dedicated time to each and every TIFFA scan for the thorough and correct evaluation to prevent any mistake. Our case highlights one such example of an incomplete and misdiagnosed congenital abnormality, detected outside, which was ultimately proven to be a completely different congenital anomaly along with the presence of another synchronous abnormality, all detected together at our institute.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432602","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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