BMJ Case Reports最新文献_第2页

Recurrent transient global amnesia in antiphospholipid antibody syndrome. 抗磷脂抗体综合征复发性短暂性全身性遗忘。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-08 DOI: 10.1136/bcr-2025-270539

Maria A Parekh

引用次数: 0

Female urethral duplication with Hutch diverticulum and vesicoureteral reflux: a rare association. 女性尿道重复伴Hutch憩室和膀胱输尿管反流：罕见的关联。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-08 DOI: 10.1136/bcr-2025-270497

Anandit Bal, Srikanth Chinthala, Santosh Kumar Mahalik

{"title":"Female urethral duplication with Hutch diverticulum and vesicoureteral reflux: a rare association.","authors":"Anandit Bal, Srikanth Chinthala, Santosh Kumar Mahalik","doi":"10.1136/bcr-2025-270497","DOIUrl":"https://doi.org/10.1136/bcr-2025-270497","url":null,"abstract":"Urethral duplication is an uncommon congenital anomaly, exceptionally rare in girls, with very few cases reported worldwide. We present the case of a preschool-aged girl with recurrent urinary tract infections, ultimately diagnosed with right-sided grade V vesicoureteral reflux and a paraureteric (Hutch) diverticulum. Examination under anaesthesia revealed an additional urethral opening caudal to the orthotopic urethral meatus. Cannulation and cystoscopy confirmed urethral duplication, an association not previously reported in the literature. The patient underwent ureteric reimplantation and excision of the diverticulum, while the duplicated urethra was managed conservatively as it was asymptomatic. At the 6-month follow-up, she remained symptom-free with no further urinary tract infections. To our knowledge, this is the first report describing the association of female urethral duplication with high-grade vesicoureteral reflux and Hutch diverticulum and highlights the importance of considering urethral duplication in female patients with complex urinary symptoms and demonstrates a novel combination of urogenital anomalies.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855849","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

Behind the bleeding: rare and relentless uterine lymphoma ending in chemotherapy toxicity. 出血的背后：罕见和无情的子宫淋巴瘤结束化疗毒性。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2025-267013

Ahmad Salameh, Rama Shreim, Mohammad Shreim, Akram Karama

{"title":"Behind the bleeding: rare and relentless uterine lymphoma ending in chemotherapy toxicity.","authors":"Ahmad Salameh, Rama Shreim, Mohammad Shreim, Akram Karama","doi":"10.1136/bcr-2025-267013","DOIUrl":"https://doi.org/10.1136/bcr-2025-267013","url":null,"abstract":"A woman in her 30s presented with irregular vaginal bleeding and abdominal distension. Initial imaging suggested a uterine fibroid; however, intraoperative findings during planned laparotomy were atypical, prompting an excisional biopsy. The initial pathological diagnosis was endometrial stromal sarcoma, and staging imaging suggested liver metastases, prompting chemotherapy initiation. One month later, she developed urinary retention, oedema and dyspnoea. Imaging revealed a large pelvic mass causing bilateral hydronephrosis, extensive lymphadenopathy and tumour lysis syndrome, managed with stents and supportive care. Re-evaluation of the biopsy established the diagnosis of primary endometrial diffuse large B-cell lymphoma (DLBCL). Hepatitis B positivity delayed chemotherapy; interim dexamethasone provided relief. Intensive chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine and methotrexate/ifosfamide, etoposide and cytarabine resulted in a rapid response but was complicated by neutropenic sepsis, leading to death. This case highlights the diagnostic challenge of endometrial DLBCL, the critical importance of pathological re-evaluation and the need for careful toxicity monitoring during intensive chemotherapy.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147833358","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 lymphoma of the acromion presenting with isolated shoulder pain. 原发性肩峰淋巴瘤，表现为孤立性肩痛。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2026-272124

Rajshekhar C Jaka, Aishwarya Madasamy Swaminathan, Abhayakumar Malabagi, Sunil Kumar Shetty

引用次数: 0

Complicated intra-abdominal fibromatosis masked by a perforated jejunal diverticulitis. 空肠穿孔憩室炎掩盖的复杂腹内纤维瘤病。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2025-265738

Sadik Al-Hassani, Osama Zaman, Adrian Hall, Shikha Singhal, Akinfemi Ayobami Akingboye

引用次数: 0

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria. β-尿酰丙酸酶缺乏症与甲基丙二酸尿相关的Leigh综合征。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2026-272561

Giulia Ferrera, Sara Boenzi, Eleonora Lamantea, Daniele Ghezzi, Anna Ardissone

{"title":"β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.","authors":"Giulia Ferrera, Sara Boenzi, Eleonora Lamantea, Daniele Ghezzi, Anna Ardissone","doi":"10.1136/bcr-2026-272561","DOIUrl":"https://doi.org/10.1136/bcr-2026-272561","url":null,"abstract":"β-ureidopropionase (βUP) deficiency, caused by pathogenic variants in UPB1, is a rare autosomal recessive disorder with fewer than 60 reported cases to date. Clinical presentation is highly variable, ranging from asymptomatic individuals to severe neurodevelopmental disorders. Diagnosis relies on the detection of pyrimidine degradation metabolites, such as N-carbamyl-β-alanine (NCβA) and N-carbamyl-β-aminoisobutyrate (NCβAIBA), which are not widely available in routine clinical practice.We report a 7-year-old boy with early-onset developmental delay and regression, Leigh-like basal ganglia lesions on brain MRI, and persistent elevation of urinary methylmalonic acid (MMA). Muscle biopsy revealed an isolated respiratory chain complex I deficiency. Genetic testing identified two novel biallelic UPB1 variants, and urinary analysis confirmed marked elevation of pyrimidine degradation metabolites, establishing the diagnosis of βUP deficiency.This case expands the clinical and neuroradiological spectrum of βUP deficiency and identifies elevated urinary MMA as a previously unreported finding in this disorder. Given the widespread availability of urinary organic acid analysis, MMA may represent a possibly useful and accessible biomarker to support diagnosis. βUP deficiency should be considered in the differential diagnosis of children with Leigh-like encephalopathy and unexplained MMA elevation.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147833500","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

Leptospira-associated haemolytic uraemic syndrome: a diagnostic challenge. 钩端螺旋体相关溶血性尿毒综合征：一个诊断挑战。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2025-271203

Debaditya Chatterjee, Atanu Chandra, Mehebub Alam Khandakar, Baidyanath Sana

{"title":"Leptospira-associated haemolytic uraemic syndrome: a diagnostic challenge.","authors":"Debaditya Chatterjee, Atanu Chandra, Mehebub Alam Khandakar, Baidyanath Sana","doi":"10.1136/bcr-2025-271203","DOIUrl":"https://doi.org/10.1136/bcr-2025-271203","url":null,"abstract":"Leptospirosis is a globally prevalent zoonotic infection caused by pathogenic spirochaetes of the genus Leptospira Although typically associated with mild flu-like symptoms or Weil's disease (characterised by jaundice, renal failure and haemorrhagic manifestations), atypical and severe presentations can mimic other systemic disorders. A man in his 40s presented with fever, myalgia along with rapidly progressive jaundice, thrombocytopenia, microangiopathic haemolytic anaemia and acute kidney injury, preceded by a short episode of diarrhoea. The initial working diagnosis was haemolytic uraemic syndrome (HUS) secondary to Shiga toxin-producing Escherichia coli and he was treated with plasma exchange, transfusions and renal replacement therapy. However, stool examinations were negative for Shiga toxin and bacterial pathogens. Subsequent investigations confirmed leptospirosis. He improved significantly after treatment with doxycycline alongside supportive therapy. This case highlights the importance of considering leptospirosis as a differential diagnosis in patients with HUS, particularly in endemic regions, to avoid delays in targeted treatment.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147833432","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

Paediatric cervicomedullary perimedullary arteriovenous fistula presenting with intraventricular and subarachnoid haemorrhage: curative bilateral parallel-coiling. 以脑室和蛛网膜下腔出血为表现的小儿颈髓周围动静脉瘘：治疗双侧平行盘绕。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2025-270357

Attill Saemann, Lissa Ogieglo, Michael E Kelly, Syed Uzair Ahmed

{"title":"Paediatric cervicomedullary perimedullary arteriovenous fistula presenting with intraventricular and subarachnoid haemorrhage: curative bilateral parallel-coiling.","authors":"Attill Saemann, Lissa Ogieglo, Michael E Kelly, Syed Uzair Ahmed","doi":"10.1136/bcr-2025-270357","DOIUrl":"https://doi.org/10.1136/bcr-2025-270357","url":null,"abstract":"This boy in mid childhood presented with a sudden, excruciating occipital headache following a week of progressive gait unsteadiness and neck-accentuated meningeal pain. CT demonstrated tetraventricular haemorrhage with early obstructive hydrocephalus and perimesencephalic subarachnoid blood. CT angiography/magnetic resonance angiography (MRA) and digital subtraction angiography revealed a cervicomedullary perimedullary arteriovenous fistula (PMAVF) supplied by the anterior and posterior spinal arteries with a single venous pouch aneurysm at C3-4. Emergency external ventricular drain (EVD) placement was performed. Definitive endovascular cure was achieved 72 hours later using simultaneous bilateral micro-catheterisation of the venous pouch and 'parallel' coiling under multimodality neuromonitoring, completely occluding the shunt while preserving spinal arterial flow. The patient recovered without any neurological deficit, the EVD was gradually weaned over the first 5 postoperative days and removed without clinical or radiological difficulty, and the 12-week MRI/MRA confirmed complete occlusion; at that time, he had returned fully to school and sports including football. This case highlights the importance of cervicomedullary vascular imaging in atraumatic paediatric Subarachnoid Hemorrhage (SAH)/intraventricular haemorrhage and illustrates that complex type III/C PMAVFs can be safely cured in a single session using a dual-pedicle coiling strategy in select cases.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147833468","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

Peripheral eosinophilia in amyopathic dermatomyositis: an atypical presentation with diagnostic and therapeutic implications. 外周嗜酸性粒细胞增多在淀粉性皮肌炎：诊断和治疗意义的不典型表现。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2025-271094

Paul Nedumpurath, Rohith Krishnan, Ram Mohan Bhandary, Sudhindra Rao Mananje

{"title":"Peripheral eosinophilia in amyopathic dermatomyositis: an atypical presentation with diagnostic and therapeutic implications.","authors":"Paul Nedumpurath, Rohith Krishnan, Ram Mohan Bhandary, Sudhindra Rao Mananje","doi":"10.1136/bcr-2025-271094","DOIUrl":"https://doi.org/10.1136/bcr-2025-271094","url":null,"abstract":"Amyopathic dermatomyositis (ADM) is a rare variant of dermatomyositis characterised by the pathognomonic cutaneous features of the disease in the absence of clinically significant muscle weakness for at least 6 months. Peripheral eosinophilia is an uncommon laboratory finding associated with ADM and is more commonly linked to allergic, parasitic or haematological disorders.We present the case of a woman in her 70s with classic cutaneous signs of dermatomyositis associated with pruritus for 3 years, preserved muscle strength and persistent peripheral eosinophilia. Secondary causes of eosinophilia were excluded, and a diagnosis of ADM was made based on clinical features and antibody positivity. The patient showed an adequate response to systemic corticosteroids, with resolution of skin lesions and normalisation of eosinophil counts.This case highlights the importance of considering ADM in patients presenting with unexplained eosinophilia and characteristic cutaneous manifestations and adds to the limited literature describing eosinophilic manifestations in inflammatory myopathies.","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147833523","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

Blurred vision as the first symptom of pancreatic cancer. 视力模糊是胰腺癌的第一症状。

IF 0.6

BMJ Case Reports Pub Date : 2026-05-04 DOI: 10.1136/bcr-2025-267417

Dorottya Pasztor, Eszter Zöld, Éva Szekanecz, Sarolta Molnár, Nikolaos E Bechrakis, Eva Suranyi

引用次数: 0