BMJ Case Reports最新文献_第4页

Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation. 遗传性血管性水肿的儿科患者表现为腹痛和十二指肠扩张。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-05 DOI: 10.1136/bcr-2024-263989

Mawada Abbaker, Yaseen Rafe'e, Irma Zamir, Gurbaksh Esch

{"title":"Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation.","authors":"Mawada Abbaker, Yaseen Rafe'e, Irma Zamir, Gurbaksh Esch","doi":"10.1136/bcr-2024-263989","DOIUrl":"10.1136/bcr-2024-263989","url":null,"abstract":"SummaryHereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood. The condition stems from a deficiency or dysfunction of C1-esterase inhibitor (C1-INH), which triggers uncontrolled inflammation. Diagnosis depends on factors level and function. Treatment focuses on managing acute attacks and preventing future episodes using medications such as C1-INH replacement among other options. In this case, a middle childhood boy experienced severe abdominal pain and vomiting. A detailed family history revealed a pattern of HAE among relatives. Lab results confirmed Type 1 HAE. Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein. This case illustrates the importance of considering HAE in children with unexplained abdominal symptoms, particularly in the context of a family history of the condition. Early identification and treatment are essential to managing this life-threatening disorder.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567078","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

Late-presenting congenital diaphragmatic hernia: a rare and challenging diagnosis. 晚期先天性膈疝：一种罕见且具有挑战性的诊断。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-05 DOI: 10.1136/bcr-2025-266266

Mariana Sebastião, Mariana Gouveia Lopes, Inês Pessanha, Joana Aquino

引用次数: 0

Near-complete resolution of tumour thrombus in a patient with advanced non-seminomatous germ cell tumour: a multidisciplinary approach without surgical intervention. 晚期非半瘤性生殖细胞肿瘤患者肿瘤血栓的近乎完全解决：一种无需手术干预的多学科方法。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-05 DOI: 10.1136/bcr-2025-266237

Alicia Hou, Akshay Mathavan, Akash Mathavan, Jonathan A Chatzkel

{"title":"Near-complete resolution of tumour thrombus in a patient with advanced non-seminomatous germ cell tumour: a multidisciplinary approach without surgical intervention.","authors":"Alicia Hou, Akshay Mathavan, Akash Mathavan, Jonathan A Chatzkel","doi":"10.1136/bcr-2025-266237","DOIUrl":"10.1136/bcr-2025-266237","url":null,"abstract":"Non-seminomatous germ cell tumours are aggressive testicular malignancies that can rarely present with intravascular tumour thrombus, a complication associated with significant morbidity and complex management. We report a young man with a mixed non-seminomatous germ cell tumour who presented with pulmonary embolism and a large tumour thrombus extending from the inferior vena cava to the right atrium and pulmonary veins. Due to haemodynamic instability, he received therapeutic anticoagulation and an abridged 'cycle 0' chemotherapy regimen, followed by standard bleomycin, etoposide and cisplatin and delayed orchiectomy. Despite the extent of vascular involvement, near-complete resolution of tumour thrombus was achieved without surgical thrombectomy. This case highlights the potential for medical therapy alone in select non-seminomatous germ cell tumours and underscores the importance of early systemic treatment and multidisciplinary coordination. We also detail key complicating features such as suspicion of antithrombin consumption challenging our anticoagulation strategy to inform management strategies.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567080","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

Paraneoplastic hypercalcaemia induced by ovarian clear-cell carcinoma in a young nullipara: implications for early detection and management. 卵巢透明细胞癌引起的副肿瘤性高钙血症：早期发现和处理的意义。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-05 DOI: 10.1136/bcr-2025-265457

Sholanki Halder, Rohan Kapoor, Mukurdipi Ray

{"title":"Paraneoplastic hypercalcaemia induced by ovarian clear-cell carcinoma in a young nullipara: implications for early detection and management.","authors":"Sholanki Halder, Rohan Kapoor, Mukurdipi Ray","doi":"10.1136/bcr-2025-265457","DOIUrl":"10.1136/bcr-2025-265457","url":null,"abstract":"Paraneoplastic hypercalcaemia, an uncommon manifestation in ovarian malignancies, exhibits the commonest association with clear cell carcinoma among epithelial ovarian neoplasms. Patients presenting with severe hypercalcaemia of malignancy are considered oncological emergencies, necessitating prompt and aggressive intervention. We present a case of ovarian clear-cell carcinoma (OCCC) that manifests with severe hypercalcaemia as one of its primary clinical features, posing significant challenges to precise diagnosis and preoperative optimisation. The necessity for aggressive fluid resuscitation, calciuresis and meticulous electrolyte monitoring led to an arduous course in perioperative management. Normalisation of the serum calcium levels was promptly noted following primary cytoreductive surgery. This case underscores the importance of including OCCC in the differential diagnosis of unexplained hypercalcaemia, particularly in women presenting with symptoms suggestive of ovarian malignancy. This also emphasises the critical need for early recognition of these paraneoplastic manifestations, facilitating timely diagnosis and treatment initiation, potentially improving prognostic outcomes.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567081","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

Dengue cerebellitis in middle childhood from South India. 南印度中期儿童的登革小脑炎。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-266437

Venkatesh Kumar Balan, Sarala Premkumar, Elayaraja Sivaprakasam, Swathi Ganesan

引用次数: 0

Rheumatoid variable vessel vasculitis concurrently affecting small, medium and large vessels. 类风湿可变血管炎并发影响小、中、大血管。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-266022

Andrew Bernard Xu, Ian Liang, Matthew Parker

引用次数: 0

17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency patient with gender dysphoria: insights into challenges in management. 17β-羟基类固醇脱氢酶3型（17β-HSD3）缺乏患者伴性别焦虑症：管理挑战的见解

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2025-265093

Surajj S Archana, Mashook Abdul Khader, Pramod N, Sachin Dharwadkar, Akila Prashant, Lakshmi Nagendra, Vijayakumar Ramu

{"title":"17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency patient with gender dysphoria: insights into challenges in management.","authors":"Surajj S Archana, Mashook Abdul Khader, Pramod N, Sachin Dharwadkar, Akila Prashant, Lakshmi Nagendra, Vijayakumar Ramu","doi":"10.1136/bcr-2025-265093","DOIUrl":"10.1136/bcr-2025-265093","url":null,"abstract":"17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare autosomal recessive disorder that impairs testosterone synthesis, leading to undervirilisation in 46,XY individuals. An individual in their early 20s, raised as female, developed male secondary sexual characteristics at puberty. Evaluation revealed a 46,XY karyotype. Hormonal and genetic analyses confirmed the diagnosis of 17β-HSD3 deficiency, showing the homozygous HSD17B3 mutation and a decreased testosterone-to-androstenedione ratio. Despite identifying as male, the patient opted against gender-affirming therapy, citing cultural and financial constraints as reasons for disinterest in further management. This reluctance emphasises the challenges of managing rare disorders of sex development (DSD) in resource-limited countries like India, compounded by limited awareness, social stigma and inadequate access to gender-affirming care. Psychosocial counselling was initiated to address gender dysphoria and educate the patient on long-term risks, including malignancy. However, the patient disengaged from follow-up discussions. This case highlights the importance of multidisciplinary care and societal support in addressing the needs of individuals with DSD.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564343","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

Coeliac artery vasculitis: an uncommon aetiology of abdominal pain. 腹腔动脉血管炎：一种罕见的腹痛病因。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2024-262361

Frank R Chung, Emily D Gutowski, Vasantham Annadurai, Sicy H Lee

引用次数: 0

Partial anomalous pulmonary venous return: diagnostic challenges and successful correction in a patient with progressive pulmonary hypertension. 部分肺静脉异常回流：进行性肺动脉高压患者的诊断挑战和成功纠正。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2024-264779

Miguel Antonio Belaunzaran, Samuel Koenigsberg, Akash Mathavan, Akshay Mathavan

{"title":"Partial anomalous pulmonary venous return: diagnostic challenges and successful correction in a patient with progressive pulmonary hypertension.","authors":"Miguel Antonio Belaunzaran, Samuel Koenigsberg, Akash Mathavan, Akshay Mathavan","doi":"10.1136/bcr-2024-264779","DOIUrl":"10.1136/bcr-2024-264779","url":null,"abstract":"Partial anomalous pulmonary venous return (PAPVR) is a rare congenital anomaly in which one or more pulmonary veins drain into the systemic venous system, creating a left-to-right shunt and potentially causing right-sided volume overload. Frequently associated with atrial septal defects, PAPVR may present with non-specific symptoms such as exertional dyspnoea and is often misdiagnosed as pulmonary hypertension of other origins. We describe a woman with progressive exertional dyspnoea and lower extremity oedema in the setting of newly identified precapillary pulmonary hypertension. Imaging revealed severe right atrial enlargement and a left-to-right shunt from the right superior pulmonary vein draining into the superior vena cava, consistent with PAPVR. She underwent successful surgical correction with the Warden procedure resulting in functional recovery. This case highlights the importance of recognising unexplained right atrial enlargement as a clue to PAPVR and demonstrates the potential for symptomatic and physiological resolution following timely surgical intervention.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564351","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

Solitary intraoral pyogenic granuloma in neurofibromatosis type 1: diagnostic conundrum. 1型神经纤维瘤病的孤立性口内化脓性肉芽肿：诊断难题。

IF 0.6

BMJ Case Reports Pub Date : 2025-07-03 DOI: 10.1136/bcr-2024-263415

Lata Goyal, Hariram Sankar, Yeshwanth Perambudhuru, Gargi Kapatia

引用次数: 0