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Multimodality cardiac imaging in an adult patient with unrepaired tetralogy of Fallot.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-06 DOI: 10.1136/bcr-2024-263494
Jed Valentiner Shrewsbury, Rumneek Hampal, Ian Beeton, Aigul Baltabaeva
{"title":"Multimodality cardiac imaging in an adult patient with unrepaired tetralogy of Fallot.","authors":"Jed Valentiner Shrewsbury, Rumneek Hampal, Ian Beeton, Aigul Baltabaeva","doi":"10.1136/bcr-2024-263494","DOIUrl":"https://doi.org/10.1136/bcr-2024-263494","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802397","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
Uncommon twist: acute onset pulsatile proptosis in the setting of undiagnosed sphenoid wing dysplasia. 不常见的扭曲：在未确诊的蝶骨翼发育不良的情况下急性发作的搏动性突眼。
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-264657
Amy Coman, Sara Haroon Lodhi, Peter Hooker, Ivo Reyes
{"title":"Uncommon twist: acute onset pulsatile proptosis in the setting of undiagnosed sphenoid wing dysplasia.","authors":"Amy Coman, Sara Haroon Lodhi, Peter Hooker, Ivo Reyes","doi":"10.1136/bcr-2024-264657","DOIUrl":"https://doi.org/10.1136/bcr-2024-264657","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787835","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
Role of immunohistochemistry in the fertility-sparing management of Sertoli Leydig cell tumour.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-262353
Ipshita Sahoo, Shalini Rajaram, Parmita Tiwari, Prashant Durgapal
{"title":"Role of immunohistochemistry in the fertility-sparing management of Sertoli Leydig cell tumour.","authors":"Ipshita Sahoo, Shalini Rajaram, Parmita Tiwari, Prashant Durgapal","doi":"10.1136/bcr-2024-262353","DOIUrl":"https://doi.org/10.1136/bcr-2024-262353","url":null,"abstract":"<p><p>Ovarian Sertoli Leydig cell tumours (SLCTs) are rare and occur predominantly in young females. Categorised as less common ovarian cancers, they have a favourable prognosis, and fertility preservation is an option in early-stage disease, where fertility is desired. Here, we describe a case of a late adolescent girl, who presented after tumour excision of left ovarian mass. Her initial histopathology report showed mucinous adenocarcinoma of left ovary. Slide review and immunohistochemistry suggested stage IC, intermediate grade Sertoli Leydig cell tumour and the patient was kept on observation. Six months later, she underwent re-surgery with fertility preservation for suspected recurrence. Final histopathology showed no residual tumour. The girl has been disease-free for 4 years. This case highlights the importance of immunohistochemistry and extensive pathology review for diagnosis of this rare tumour. It emphasises that SLCT can masquerade as other poor-grade malignancies owing to histopathological overlap.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787884","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 immune manifestations of childhood Hodgkin's lymphoma.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-264014
Jaya Gupta, Nishant Verma, Sonali Singh
{"title":"Paraneoplastic immune manifestations of childhood Hodgkin's lymphoma.","authors":"Jaya Gupta, Nishant Verma, Sonali Singh","doi":"10.1136/bcr-2024-264014","DOIUrl":"https://doi.org/10.1136/bcr-2024-264014","url":null,"abstract":"<p><p>Autoimmune conditions like autoimmune haemolytic anaemia and autoimmune thrombocytopenic purpura as secondary manifestations of childhood Hodgkin's lymphoma (HL) have long been known. Although with a limited number of cases and limited knowledge of the pathogenesis behind, there is a lot left to be unveiled. Hence, in an effort to throw some light on this aspect, we present a series of three cases in their middle childhood, presenting with these autoimmune manifestations of autoimmune haemolytic anaemia and immune thrombocytopenia secondary to HL. The identification and knowledge of these conditions is of importance as they pose a certain challenge in the diagnosis as well as management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787859","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
Spontaneous proximal migration of Kuntscher nail: an uncommon complication.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-264673
Sharan Mallya, Gumin Tayeng, Ashok Puranik, Rajdeep Das
{"title":"Spontaneous proximal migration of Kuntscher nail: an uncommon complication.","authors":"Sharan Mallya, Gumin Tayeng, Ashok Puranik, Rajdeep Das","doi":"10.1136/bcr-2024-264673","DOIUrl":"https://doi.org/10.1136/bcr-2024-264673","url":null,"abstract":"<p><p>The Kuntscher nail (K-nail) was initially designed with an axial section in the letter 'V' shape. Still, it was later reintroduced in a cloverleaf shape to achieve additional strength and easier use. Migration of the K-nail proximally or distally in the femur is a well-documented complication, with distal migration reported as one of the complications in the 1940s. However, spontaneous extrusion of the K-nail proximally is a rare complication. The common causes of the extrusion include disuse/senile osteoporosis, infection, inappropriate K-nail size, delayed union with shortening and premature weight bearing.A woman in her early 80s presented with a history of a fall 3 months ago. She had pain in the left hip and was unable to bear weight. She was diagnosed with a left neck of femur fracture. On the right side, she had a femur shaft fracture for which K-nailing was done 11 years ago. She started feeling the implant in her right buttock for 3 years but did not seek medical advice and was able to do her routine activities. She underwent implant removal on the right side with left hip hemiarthroplasty.Spontaneous migration of the K-nail proximally is an uncommon presentation. It is suggested that K-nails be routinely removed as soon as union and consolidation of the fracture are achieved radiologically.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787888","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
Retinal pigment epithelial (RPE) adenoma mimicking retinoblastoma in a child. 模仿视网膜母细胞瘤的儿童视网膜色素上皮（RPE）腺瘤。
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-260331
Ayushi Agarwal, Dilip Kumar Mishra, Swathi Kaliki
{"title":"Retinal pigment epithelial (RPE) adenoma mimicking retinoblastoma in a child.","authors":"Ayushi Agarwal, Dilip Kumar Mishra, Swathi Kaliki","doi":"10.1136/bcr-2024-260331","DOIUrl":"https://doi.org/10.1136/bcr-2024-260331","url":null,"abstract":"<p><p>The authors report a rare case of retinal pigment epithelial (RPE) adenoma in a child who presented with blurred vision in the right eye for 5 years. Examination revealed visual acuity of light perception with a giant, retrolental yellowish-white mass in the right eye. Ultrasonography revealed an intraocular mass with areas of calcification within the lesion. MRI confirmed an intraocular lesion which was hyperintense on T1-weighted imaging and hypointense on T2-weighted imaging. A provisional diagnosis of right group E retinoblastoma (RB) was made, and enucleation was performed. Based on clinical and histopathology correlation, a definitive diagnosis of right primary RPE adenoma was established. The authors herein highlight the rare occurrence of RPE adenoma in the younger age group, its resemblance to RB and the significance of considering this entity among the differential diagnoses of leukocoria.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787881","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
Prenatal diagnosis of a transsphenoidal meningoencephalocele.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-261750
Nour Marroun, Sophie Lecomte, Mieke Cannie, Andrew James Carlin
{"title":"Prenatal diagnosis of a transsphenoidal meningoencephalocele.","authors":"Nour Marroun, Sophie Lecomte, Mieke Cannie, Andrew James Carlin","doi":"10.1136/bcr-2024-261750","DOIUrl":"https://doi.org/10.1136/bcr-2024-261750","url":null,"abstract":"<p><p>This is probably the first case of a prenatally diagnosed transsphenoidal meningoencephalocoele. A protruding cystic mouth mass was detected at 21 weeks' gestation in conjunction with a palatal defect and a suspicion of herniation of the posterior fossa. Amniocentesis revealed a normal molecular karyotype and normal whole-exome analysis. Foetal MRI confirmed the presence of a sphenoidal bone defect and herniation of a meningeal sac containing parts of the cerebellum and medulla. Due to the poor prognosis, the patient opted for a termination of pregnancy but agreed to a full autopsy and postmortem imaging, which confirmed the diagnosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787862","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
Stillbirth linked to co-infections of dengue fever, Epstein-Barr virus and human herpesvirus-6. 死胎与同时感染登革热、Epstein-Barr 病毒和人类疱疹病毒-6 有关。
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-263660
Hemant G Deshpande, Saptesh Mohan Wagh, Chandrashekhar G Raut, Vidya Gaikwad
{"title":"Stillbirth linked to co-infections of dengue fever, Epstein-Barr virus and human herpesvirus-6.","authors":"Hemant G Deshpande, Saptesh Mohan Wagh, Chandrashekhar G Raut, Vidya Gaikwad","doi":"10.1136/bcr-2024-263660","DOIUrl":"https://doi.org/10.1136/bcr-2024-263660","url":null,"abstract":"<p><p>Co-infections, particularly with DNA viruses, are not commonly reported with dengue fever. This case report explores the clinical course of a pregnant woman initially diagnosed with dengue fever following the onset of continued fever and thrombocytopaenia. Despite efforts to manage her deteriorating health, the patient experienced a stillbirth. Further investigations revealed co-infection with Epstein-Barr virus and human herpesvirus-6. This case underscores the complexity and risk associated with the co-infections in pregnancy and highlights the need for comprehensive diagnostic strategies.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787827","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
ALERD: acute leukoencephalopathy with restricted diffusion-a newly emerging diagnosis. ALERD：急性白质脑病伴弥散受限--一种新出现的诊断。
IF 0.6
BMJ Case Reports Pub Date : 2025-04-05 DOI: 10.1136/bcr-2024-264278
Abida Akbar, Sanam Bano Rajper, Sadam Hussain, Khairunnisa Mukhtiar
{"title":"ALERD: acute leukoencephalopathy with restricted diffusion-a newly emerging diagnosis.","authors":"Abida Akbar, Sanam Bano Rajper, Sadam Hussain, Khairunnisa Mukhtiar","doi":"10.1136/bcr-2024-264278","DOIUrl":"https://doi.org/10.1136/bcr-2024-264278","url":null,"abstract":"<p><p>Acute leukoencephalopathy with restricted diffusion (ALERD) is a distinct, severe clinical-radiological syndrome characterised by encephalopathy, seizures and restricted diffusion in the subcortical white matter. ALERD is one of the infection-associated encephalopathy syndromes seen in childhood having a higher incidence of neurological sequelae. We report three cases of ALERD, all following a prodrome of fever and gastroenteritis, progressing to seizures and encephalopathy with varying outcomes. Case 1 was diagnosed as complicated dengue fever with multiple organ dysfunction syndrome (MODS), developed diffuse ALERD but improved with immunotherapy and had mild neurologic sequelae. Case 2 presented earlier, had normal initial MRI, developed diffuse ALERD later and had significant neurologic sequelae. Case 3, despite the central-sparing pattern, had rapid progression, MODS and severe cardiac dysfunction, and ultimately succumbed to death due to aspiration. These cases underscore ALERD as a significant cause of acute encephalopathy, requiring a high index of suspicion and prompt initiation of immunotherapy for better outcomes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787841","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
Pseudo-Meigs syndrome: a rare cause of abdominal ascites in a patient with an ovarian mass. 假性梅格斯综合征：卵巢肿块患者腹水的罕见病因。
IF 0.6
BMJ Case Reports Pub Date : 2025-04-03 DOI: 10.1136/bcr-2024-263547
Taylor Bowler, Mary Thomson, Sandhyarani Dasaraju
{"title":"Pseudo-Meigs syndrome: a rare cause of abdominal ascites in a patient with an ovarian mass.","authors":"Taylor Bowler, Mary Thomson, Sandhyarani Dasaraju","doi":"10.1136/bcr-2024-263547","DOIUrl":"10.1136/bcr-2024-263547","url":null,"abstract":"<p><p>Meigs syndrome is a rare phenomenon seen in approximately 1% of patients diagnosed with ovarian tumours. It is defined as a triad of a benign ovarian tumour, pleural effusion and ascites with complete resolution of symptoms following surgical intervention. This constellation of findings can be confused with several diagnoses, ranging from metastatic ovarian cancer to decompensated cirrhosis. Herein, we present a young woman presenting with new ascites, initially thought to be due to cirrhotic portal hypertension and found to have an atypical presentation of pseudo-Meigs syndrome, in the setting of a benign ovarian teratoma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787866","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
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