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Metachronous splenic metastasis from squamous cell carcinoma of the anus. 肛门鳞状细胞癌的异时性脾转移。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-266602
Liane Kee, David L Ciresi, Maria E Linnaus
{"title":"Metachronous splenic metastasis from squamous cell carcinoma of the anus.","authors":"Liane Kee, David L Ciresi, Maria E Linnaus","doi":"10.1136/bcr-2025-266602","DOIUrl":"10.1136/bcr-2025-266602","url":null,"abstract":"<p><p>A woman in her 70s with a history of metastatic squamous cell carcinoma (SCC) of the anus in systemic remission presented with a new splenic metastasis on surveillance CT imaging consistent with the primary site of the anus as confirmed by histology. The patient consented to surgical management via laparoscopic splenectomy, which was facilitated by a combination of laparoscopic and hand-assist ports. Mobilisation of the spleen revealed local tumour invasion into the diaphragm, requiring resection and resulting in capnothorax, which was appropriately repaired. Final pathology showed a well-circumscribed 7.9×6.8×5.2 cm mass exhibiting microscopic morphology and nuclear markers consistent with poorly-differentiated SCC of the anus, confirming metastatic disease. Splenic metastases are a rare finding that may require surgical management. Splenectomy can be feasibly managed using minimally invasive techniques, such as laparoscopy, with or without hand assistance.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190867","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}
引用次数: 0
Atrial septal defect presenting as atrial flutter in early infancy. 婴幼儿早期房间隔缺损表现为心房扑动。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2024-262617
Diptirekha Satapathy, Thirunavukkarasu Arun Babu, Amirtha Ganesh B
{"title":"Atrial septal defect presenting as atrial flutter in early infancy.","authors":"Diptirekha Satapathy, Thirunavukkarasu Arun Babu, Amirtha Ganesh B","doi":"10.1136/bcr-2024-262617","DOIUrl":"https://doi.org/10.1136/bcr-2024-262617","url":null,"abstract":"<p><p>Atrial septal defects (ASD) may lead to supraventricular arrhythmias, notably atrial flutter and fibrillation, as a consequence of right atrial volume overload resulting from left-to-right shunting, which alters the electrophysiological properties of the right atrium. While ASDs can be associated with atrial flutter, its manifestation in infancy is exceedingly uncommon. We present the case of an infant with ostium secundum ASD who developed atrial flutter, successfully treated with direct current cardioversion.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190797","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
High-output heart failure caused by a large renal arterio-venous (AV) fistula. 大肾动静脉瘘引起的高输出心力衰竭。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-267097
Tim Houghton, Anindya Mukherjee, Abdelgani A Abdelgani, Andrew Clark
{"title":"High-output heart failure caused by a large renal arterio-venous (AV) fistula.","authors":"Tim Houghton, Anindya Mukherjee, Abdelgani A Abdelgani, Andrew Clark","doi":"10.1136/bcr-2025-267097","DOIUrl":"https://doi.org/10.1136/bcr-2025-267097","url":null,"abstract":"<p><p>A man in his early 70s presented with heart failure syndrome. The clinical diagnosis was possible constrictive pericarditis. However, at cardiac catheterisation, there was a large step-up in oxygen saturation in the inferior vena cava between the mid-abdomen and entry into the heart. Abdominal imaging showed a large renal arterio-venous fistula, which was subsequently embolised, resulting in the resolution of the patient's symptoms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190856","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
Lateral cervical approach for the correction of webbed neck deformity. 颈外侧入路矫正颈蹼畸形。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-266746
Rupesh Keshri, Abhishek K Rai, Sourabh C Sharma, Sandip K Rahul
{"title":"Lateral cervical approach for the correction of webbed neck deformity.","authors":"Rupesh Keshri, Abhishek K Rai, Sourabh C Sharma, Sandip K Rahul","doi":"10.1136/bcr-2025-266746","DOIUrl":"https://doi.org/10.1136/bcr-2025-266746","url":null,"abstract":"<p><p>A girl in her early childhood presented with noticeable bilateral webbed neck, extending from the mastoid to the acromion on both sides. Her antenatal history was normal; she reached all her developmental milestones in time. Being concerned about her appearance, her parents sought surgical correction before she started school. Clinically, the webbed neck was soft, non-tender and had a smooth surface with minimal mobility. Neck movements were not restricted; no pain or discharge was seen, and her health was stable with normal vital signs without any evidence of mental retardation. Pre-operative evaluations included a karyotype of 46 XX, normal echocardiography, thyroid profile and abdominal sonogram with normal Mullerian structures. A non-contrast CT scan revealed a taut skin fold with subcutaneous fat on either side of the neck, more pronounced on the right, with no significant vascularity. The lateral cervical approach was used for correction, resulting in a satisfactory cosmetic outcome on follow-up.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190803","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
Secondary trigeminal autonomic cephalgia with cavernous sinus involvement: a diagnostic challenge. 伴有海绵窦受累的继发性三叉神经自主神经性头痛：一个诊断挑战。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-267078
Pavan Raju Kola, Nimisha Preman, Rohit Chary, Jasmine Parihar, Rajesh Kumar Singh, Manjari Tripathi, Deepti Vibha
{"title":"Secondary trigeminal autonomic cephalgia with cavernous sinus involvement: a diagnostic challenge.","authors":"Pavan Raju Kola, Nimisha Preman, Rohit Chary, Jasmine Parihar, Rajesh Kumar Singh, Manjari Tripathi, Deepti Vibha","doi":"10.1136/bcr-2025-267078","DOIUrl":"https://doi.org/10.1136/bcr-2025-267078","url":null,"abstract":"<p><p>Chronic, side-locked headache refractory to standard treatment warrants investigation for underlying inflammatory, infectious or infiltrative aetiologies. This case highlights a rare presentation of a patient with a chronic history of hemicranial headache who had presented with recent worsening and unresponsiveness to conventional treatment. IgG4-related disease with hypertrophic pachymeningitis (HPM), primarily affects the cavernous sinus and orbital apex, can lead to multiple cranial nerve palsies and mimics secondary trigeminal autonomic cephalalgia. The diagnostic challenge was compounded by concomitant extrapulmonary tuberculosis, a frequent mimic in endemic regions, obscuring the clinical picture. This case underscores the importance of integrating advanced neuroimaging and serological markers for accurate diagnosis. Given the absence of definitive treatment guidelines and high chances of relapses for IgG4-related HPM, it highlights the need for personalised therapeutic strategies and long-term follow-up. This report adds to the limited literature, emphasising the need for heightened clinical suspicion in atypical headache syndromes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190840","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 ciliary dyskinesia with situs inversus totalis. 原发性纤毛运动障碍伴完全性倒位。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-266994
Vanaparthy Lahari Priyadarshini, Thirunavukkarasu Arun Babu
{"title":"Primary ciliary dyskinesia with situs inversus totalis.","authors":"Vanaparthy Lahari Priyadarshini, Thirunavukkarasu Arun Babu","doi":"10.1136/bcr-2025-266994","DOIUrl":"https://doi.org/10.1136/bcr-2025-266994","url":null,"abstract":"<p><p>An adolescent male presented with abdominal pain and cough for 2 days, along with a history of recurrent fever and cough over the past 3 months. Clinical examination revealed dextrocardia, with otherwise unremarkable systemic findings. Imaging confirmed situs inversus totalis, and laboratory evaluation showed direct hyperbilirubinaemia, without radiological evidence of bronchiectasis. Given the clinical suspicion of primary ciliary dyskinesia (PCD), whole exome sequencing was performed, revealing a mutation in the ODAD1 gene, a key component of the outer dynein arm docking complex, confirming the diagnosis of PCD.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190859","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
The challenges of managing distal renal tubular acidosis in pregnant patients with primary Sjögren's disease. 原发性Sjögren病妊娠患者远端肾小管酸中毒管理的挑战。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-266855
Elizabeth K Chu, William L Clapp, Sewar Abuarqob, Omar A Tolaymat
{"title":"The challenges of managing distal renal tubular acidosis in pregnant patients with primary Sjögren's disease.","authors":"Elizabeth K Chu, William L Clapp, Sewar Abuarqob, Omar A Tolaymat","doi":"10.1136/bcr-2025-266855","DOIUrl":"10.1136/bcr-2025-266855","url":null,"abstract":"<p><p>We present a case of a pregnant woman in her 40 s diagnosed with primary Sjögren's disease (pSjD) complicated by distal type I renal tubular acidosis. At 12 weeks' gestation, she exhibited dry eyes, dry mouth and renal dysfunction for the first time. Electrolyte studies confirmed hyperchloraemic normal anion gap metabolic acidosis with elevated urine pH. Positive serologies included +ANA, +SSA and +RF. Schirmer's test was positive. Renal biopsy indicated chronic tubulointerstitial nephritis with 40% interstitial fibrosis. Hydroxychloroquine and prednisone (60 mg daily) improved renal function, but rapid tapering led to mild worsening in renal function, sicca symptoms and fetal growth restriction. Steroid dose escalation and azathioprine initiation led to clinical improvements. At 35 weeks' gestation, she delivered preterm due to pre-eclampsia and intrahepatic cholestasis. The neonate had cutaneous neonatal lupus but was otherwise healthy. This case highlights the clinical complexity of managing distal renal tubular acidosis in pregnant patients with pSjD and the need for evidence-based treatment guidelines.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190812","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}
引用次数: 0
Beyond the uterus: diagnostic puzzle unravelled as benign metastasising leiomyomatosis with retroperitoneal and pulmonary involvement. 子宫外：诊断难题为良性转移性平滑肌瘤病伴腹膜后和肺受累。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-28 DOI: 10.1136/bcr-2025-268274
Supriya Adiody, Vishnu Narayanan S, Kanjoor Deepthi Damodaran Nair, Sareena Gilvaz, Aiswarya Pradeep
{"title":"Beyond the uterus: diagnostic puzzle unravelled as benign metastasising leiomyomatosis with retroperitoneal and pulmonary involvement.","authors":"Supriya Adiody, Vishnu Narayanan S, Kanjoor Deepthi Damodaran Nair, Sareena Gilvaz, Aiswarya Pradeep","doi":"10.1136/bcr-2025-268274","DOIUrl":"https://doi.org/10.1136/bcr-2025-268274","url":null,"abstract":"<p><p>Benign metastasising leiomyomatosis (BML) is a rare entity characterised by the spread of benign smooth muscle cells, most commonly from uterine leiomyomas, to distant sites-most often the lungs. We present a case of a woman in her 40s who presented with abnormal uterine bleeding. Initial imaging revealed multiple uterine fibroids, a retroperitoneal mass mimicking gastrointestinal stromal tumour. HRCT chest showed thin-walled cystic lung nodules creating a suspicion of lymphangioleiomyomatosis (LAM). Following total abdominal hysterectomy with bilateral salpingo-oophorectomy and excision of the retroperitoneal lesion, histopathology and immunohistochemistry (IHC) confirmed a spindle cell tumour probably leiomyoma. Although the lung lesions were initially suggestive of LAM, the IHC study of the retroperitoneal lesion showed negative HMB-45 staining, and the genetic study also ruled out tuberous sclerosis complex mutations. Hence, we finally came to the diagnosis of BML. This case highlights the diagnostic challenges posed by cystic lung lesions in BML and underscores the need for a multidisciplinary approach incorporating histology, IHC and genetic testing to differentiate BML from mimickers like LAM or low-grade leiomyosarcoma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190861","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
Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation. 一种新的TRPM6突变引起的低镁血症伴继发性低钙血症。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-26 DOI: 10.1136/bcr-2025-267428
Vykuntaraju K Gowda, Rajesh R N, Uddhava V Kinhal, Himani P Pandey, Varunvenkat M Srinivasan, Viveka Santhosh Reddy Challa
{"title":"Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation.","authors":"Vykuntaraju K Gowda, Rajesh R N, Uddhava V Kinhal, Himani P Pandey, Varunvenkat M Srinivasan, Viveka Santhosh Reddy Challa","doi":"10.1136/bcr-2025-267428","DOIUrl":"10.1136/bcr-2025-267428","url":null,"abstract":"<p><p>Hypomagnesaemia with secondary hypocalcaemia is a rare disorder characterised by severe hypomagnesaemia with moderate to severe hypocalcaemia caused by mutations in TRPM6. We report an infant born to a consanguineous marriage with multiple episodes of seizures. Investigations showed low total calcium and ionised calcium, hypomagnesaemia, normal vitamin D<sub>3</sub> and parathyroid hormone. Fractional excretion of magnesium was 2.1%, pointing to an intestinal cause. Exome sequencing revealed a novel homozygous in-frame deletion mutation, c.1550_1552delTAG, p.(Val517del), in exon 14 of the TRPM6 gene. Sanger sequencing in the parents showed the variant to be present in heterozygous carriers. In silico analysis and protein modelling showed the variant to be deleterious to protein function. The baby was initially managed with intravenous MgSO<sub>4</sub> and calcium gluconate correction, followed by oral high-dose magnesium sulphate and calcium supplements, and was discharged. The baby remained seizure-free on follow-up and had normal neurodevelopment appropriate for age.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173519","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
Gastric leiomyosarcoma mimicking hepatocellular carcinoma . 胃平滑肌肉瘤模拟肝细胞癌。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-25 DOI: 10.1136/bcr-2025-265246
Himanshu Gupta, D S Darshanik, Ritambara Nada, Pankaj Gupta, Surinder S Rana, Rajesh Gupta
{"title":"Gastric leiomyosarcoma mimicking hepatocellular carcinoma .","authors":"Himanshu Gupta, D S Darshanik, Ritambara Nada, Pankaj Gupta, Surinder S Rana, Rajesh Gupta","doi":"10.1136/bcr-2025-265246","DOIUrl":"https://doi.org/10.1136/bcr-2025-265246","url":null,"abstract":"<p><p>Gastric leiomyosarcoma is an extremely rare malignancy with an aggressive course. Complete excision of the tumour with adjuvant therapy is a curative option. The patient presents with non-specific upper gastrointestinal symptoms. Preoperative biopsy and immunostaining with endoscopic ultrasound guidance is the most accurate tool for diagnosis. We present here a case of a middle-aged man, presenting with upper abdominal heaviness and a lump which progressed rapidly in size over a few weeks, associated with appetite and weight loss. Radiographic evaluation was suggestive of a large tumour of the left lobe of the liver, possibly hepatocellular carcinoma, due to raised protein induced by vitamin K absence-II levels. Intraoperatively, it turned out to be of gastric origin, in relation to the liver. .</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147793","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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