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Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL).
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-264724
Biswa Mohan Mishra, Ajay Garg, Ashish Suri, Manoj Kumar Nayak
{"title":"Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL).","authors":"Biswa Mohan Mishra, Ajay Garg, Ashish Suri, Manoj Kumar Nayak","doi":"10.1136/bcr-2024-264724","DOIUrl":"https://doi.org/10.1136/bcr-2024-264724","url":null,"abstract":"<p><p>Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous multisystem disorder affecting ectodermal and mesodermal tissues, including the eyes, skin, adipose tissue and the brain. It is hypothesised to be a neural crest disorder. While ECCL presents with various neurological features, the occurrence of brain tumour is an extremely rare association. Here, we report a case of metachronous tumours comprising a dysembryoplastic neuroepithelial tumour (DNET) and a haemorrhagic chiasmal tumour in a patient with ECCL. To the best of our knowledge, this is the first documented case of ECCL presenting with subarachnoid haemorrhage (SAH) in the suprasellar region due to a tumorous bleed. A woman in her mid-20s presented with a sudden onset headache and altered sensorium. Non-contrast CT of the brain showed a focal bleed in the suprasellar region with gyriform cortical calcification in the left temporoparietal lobe and left optic globe calcification. Digital subtraction angiography was inconclusive. MRI of the brain showed intracranial and intraspinal lipomas with changes suggestive of previous surgery in the left temporal lobe. A focal bleed was noticed in the optic chiasm and pial angiomas in the left temporoparietal lobe. The patient had a history of a left temporal arachnoid cyst and dysplastic left temporal lobe, for which she underwent a left temporal lobectomy to manage drug-refractory epilepsy. Histopathological examination of the resected tissue revealed a DNET with focal cortical dysplasia. The diagnosis of ECCL was established, with associated metachronous tumours identified at multiple locations in the brain. The presence of a metachronous tumour in a patient with ECCL is a rare occurrence. Hence, clinicians should maintain a high index of suspicion and ensure that such patients are monitored through long-term follow-up, with regular screening to facilitate the early detection of a second tumour.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751050","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
Femoral head impaction fracture: a new technique for closed reduction and biological stabilisation.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-264269
Peter V Giannoudis, Eduardo Gonzalez Edery, Pradip Nemade, Vaibhav Bagaria
{"title":"Femoral head impaction fracture: a new technique for closed reduction and biological stabilisation.","authors":"Peter V Giannoudis, Eduardo Gonzalez Edery, Pradip Nemade, Vaibhav Bagaria","doi":"10.1136/bcr-2024-264269","DOIUrl":"10.1136/bcr-2024-264269","url":null,"abstract":"<p><p>Impaction femoral head fractures are seldom diagnosed or treated, even though they can be present in between 39% and 57% of acetabular-fracture dislocations or hip dislocations. These fractures can cause residual hip pain, instability, avascular necrosis (AVN) and early joint wear, potentially necessitating a total hip arthroplasty. Treatment options range from expectant management, which carries a high risk of AVN, to controlled hip dislocation and mosaicplasty, the latter demonstrating variable results.We present the case of a woman in her 50s with an impaction femoral head fracture treated via closed reduction with a bent rod using a predrilled tunnel created with the dynamic hip screw reamer, followed by biological stabilisation with allografts, bone morphogenetic protein-2 and stem cells to provide the appropriate environment for bone healing. This minimally invasive technique offers a viable treatment option for impaction femoral head fractures, with low morbidity and favourable short and mid-term follow-up outcomes. Further studies can validate the results of this technique.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11962589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751045","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
Rasburicase-induced methemoglobinemia and haemolytic anaemia in a patient with G6PD deficiency.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-262830
Nitya Surya, Cherng-Horng Wu, Helen Ryan
{"title":"Rasburicase-induced methemoglobinemia and haemolytic anaemia in a patient with G6PD deficiency.","authors":"Nitya Surya, Cherng-Horng Wu, Helen Ryan","doi":"10.1136/bcr-2024-262830","DOIUrl":"https://doi.org/10.1136/bcr-2024-262830","url":null,"abstract":"<p><p>Rasburicase is a recombinant urate oxidase enzyme indicated in patients at a high risk of tumour lysis syndrome. Rasburicase is contraindicated in patients with glucose-6-phosphate-dehydrogenase (G6PD) deficiency, given the risk of precipitating oxidative stress, haemolytic anaemia, as well as methemoglobinemia. We present a case of a man in his 40s without risk factors for G6PD deficiency, who after rasburicase administration developed severe haemolytic anaemia and hypoxia. Although studies validating the use of rasburicase were at a dosage of 0.2 mg/kg up to 5 days, there are new studies suggesting a lower dose such as 3 mg be just as efficacious in normalising uric acid. There is no evidence to date suggesting higher risk of haemolytic anaemia with increased dosage of rasburicase, but this case highlights the need to assess on a broader level whether 3 mg as a one-time dose should be the new standard of care or whether lower dosages are safer for patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751077","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
Treatment of scapholunate advanced collapse by 3D-modelled scaphoid prostheses.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-264761
Marius A Kemler
{"title":"Treatment of scapholunate advanced collapse by 3D-modelled scaphoid prostheses.","authors":"Marius A Kemler","doi":"10.1136/bcr-2024-264761","DOIUrl":"10.1136/bcr-2024-264761","url":null,"abstract":"<p><p>A male patient in his 50s presented with severe bilateral wrist pain caused by scapholunate advanced collapse (SLAC). He did not wish to undergo a salvage treatment, and consecutively both affected scaphoids were replaced by 3D-modelled prostheses. 3 and 2 years postoperatively, the patient had significant pain reduction, good wrist function and grip strength. Final X-rays demonstrated no signs of dislocation of the implant or signs of periprosthetic arthritis. Studies have shown that once SLAC occurs, the treatment should consist of either a proximal row carpectomy or scaphoidectomy and four-corner fusion. In our case, despite collapse, replacement of the single affected bone by a 3D-modelled prosthesis led to good return of function.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11962591/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751079","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
Novel use of biodegradable temporising matrix for non-healing wounds following non-medical grade silicone injectionables.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-262476
Courtney Rawitscher, Janie Faris, Audra Clark
{"title":"Novel use of biodegradable temporising matrix for non-healing wounds following non-medical grade silicone injectionables.","authors":"Courtney Rawitscher, Janie Faris, Audra Clark","doi":"10.1136/bcr-2024-262476","DOIUrl":"https://doi.org/10.1136/bcr-2024-262476","url":null,"abstract":"<p><p>Silicone injections are frequently used for aesthetic purposes, demonstrating safety when administered by ethical licensed medical professionals using medical-grade silicone. However, when non-medical-grade silicone is used for injections, complications can arise, such as silicone migration, cellulitis, silicone nodules, granulomatous formations and chronic open wounds. These wounds can be disfiguring and extremely difficult to treat. In this article, we present the case of a late 30-year-old male-to-female transgender patient who underwent non-medical-grade silicone injections in Mexico 20 years ago. These injections targeted her buttocks, bilateral hips and bilateral thighs, which resulted in significant silicone migration and large non-healing wounds. The total size of the wounds was 130 cm<sup>2</sup> on the left thigh, 280.8 cm<sup>2</sup> on the right buttocks, and 287.5 cm<sup>2</sup> on the right thigh before surgical intervention. To achieve definitive wound closure, we used a novel biodegradable temporising matrix to cover and integrate into the wounds. Single-stage grafting over the tissue was challenging due to the silicone present in all of the tissue. Therefore, we used this novel matrix to build a suitable bed for subsequent skin grafting. This method yielded favourable surgical and aesthetic results.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751061","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
Bilateral lower limbs swelling as uncommon manifestation of primary congenital lymphoedema: navigating diagnostic and therapeutic challenges in resource-limited Ende, Indonesia.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-263690
Danny Jaya Yacobus, Natashya Phillipa Ngasu, Hayyu Rafina Sanjaya, Brigitta Ida Resita Vebrianti Corebima
{"title":"Bilateral lower limbs swelling as uncommon manifestation of primary congenital lymphoedema: navigating diagnostic and therapeutic challenges in resource-limited Ende, Indonesia.","authors":"Danny Jaya Yacobus, Natashya Phillipa Ngasu, Hayyu Rafina Sanjaya, Brigitta Ida Resita Vebrianti Corebima","doi":"10.1136/bcr-2024-263690","DOIUrl":"10.1136/bcr-2024-263690","url":null,"abstract":"<p><p>This case report details a newborn in Ende, Indonesia, diagnosed with primary congenital lymphoedema, evidenced by bilateral lower limb swelling. This rare condition is characterised by developmental defects in the lymphatic system, leading to a fluid balance disruption. Diagnosis was primarily clinical, relying on thorough patient history and physical examination, given the limited resources for advanced diagnostic tools. The report emphasises the importance of supportive care, including meticulous skin care and manual lymph drainage, to improve life quality and minimise infection risks. It highlights the diagnostic and management challenges faced in low-resource settings and stresses the need for awareness and early intervention to manage such congenital conditions effectively.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11962590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750535","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
Percutaneous balloon-assisted ultrasound-guided glue injection after failed percutaneous thrombin injection for femoral artery pseudoaneurysm.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-28 DOI: 10.1136/bcr-2025-265361
Divij Agarwal, Pradeep Hatimota, Chandan J Das
{"title":"Percutaneous balloon-assisted ultrasound-guided glue injection after failed percutaneous thrombin injection for femoral artery pseudoaneurysm.","authors":"Divij Agarwal, Pradeep Hatimota, Chandan J Das","doi":"10.1136/bcr-2025-265361","DOIUrl":"https://doi.org/10.1136/bcr-2025-265361","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742285","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
Closed reduction of multiple MCP joint dislocations.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-28 DOI: 10.1136/bcr-2024-264340
Aravind Balachandran, Sourabh Sinha
{"title":"Closed reduction of multiple MCP joint dislocations.","authors":"Aravind Balachandran, Sourabh Sinha","doi":"10.1136/bcr-2024-264340","DOIUrl":"https://doi.org/10.1136/bcr-2024-264340","url":null,"abstract":"<p><p>We report a young man in his 20s who fell from the roof of his house and sustained injury to his left hand. Physical examination and radiographic evaluation revealed closed dislocations of the second, third, and fourth metacarpophalangeal (MCP) joint with fractures of the bases of the third and fourth metacarpals and the base of the proximal phalanx of the middle finger. The injury was managed with closed reduction and splintage with an uneventful outcome. Multiple MCP joint dislocations are rare, and there are only a few reports of closed reduction with a good outcome.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742266","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
Diagnostic challenges in DAT-negative autoimmune haemolytic anaemia.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-28 DOI: 10.1136/bcr-2024-264551
Laura McDuff, Marcus Lombard, Tony Calogero, Michael Leahy, Susan Finch
{"title":"Diagnostic challenges in DAT-negative autoimmune haemolytic anaemia.","authors":"Laura McDuff, Marcus Lombard, Tony Calogero, Michael Leahy, Susan Finch","doi":"10.1136/bcr-2024-264551","DOIUrl":"https://doi.org/10.1136/bcr-2024-264551","url":null,"abstract":"<p><p>Autoimmune haemolytic anaemia (AIHA) is a rare, heterogeneous condition that poses diagnostic challenges, especially in direct antiglobulin test (DAT)-negative cases, where the absence of detectable autoantibodies complicates diagnosis. We report a case of a male patient in his late 60s diagnosed with a rare subtype of IgA-mediated, DAT-negative AIHA. The patient presented with painless jaundice, pruritus and laboratory evidence of haemolysis, including anaemia, reticulocytosis, elevated unconjugated bilirubin, increased lactate dehydrogenase and decreased haptoglobins. Initial and repeated standard DATs were negative. Subsequent testing ruled out viral, autoimmune and malignancy-related causes. An extended DAT using alternative reagents for IgA and IgM confirmed an IgA-mediated AIHA. Further investigations later confirmed the diagnosis of an indolent lymphoproliferative disorder following detection of a clonal B-cell population in the peripheral blood. This case underscores the diagnostic complexity of AIHA and the value of a comprehensive diagnostic approach to finding cases of rare DAT-negative subtypes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742267","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
Non-ST elevation myocardial infarction from aortic root thrombus after LVAD placement.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-28 DOI: 10.1136/bcr-2024-264624
Daniel Holtz, Rhythm Vasudeva, Tyler Zorn, Zubair Shah, Tarun Dalia
{"title":"Non-ST elevation myocardial infarction from aortic root thrombus after LVAD placement.","authors":"Daniel Holtz, Rhythm Vasudeva, Tyler Zorn, Zubair Shah, Tarun Dalia","doi":"10.1136/bcr-2024-264624","DOIUrl":"10.1136/bcr-2024-264624","url":null,"abstract":"<p><p>Aortic root thrombosis (ART) is a rare but serious complication following the placement of continuous-flow left ventricular assist devices (CF-LVAD). We present the case of a patient with idiopathic non-ischaemic cardiomyopathy who developed a non-ST elevation myocardial infarction (NSTEMI) secondary to ART after CF-LVAD placement. The patient was treated conservatively with antiplatelet therapy and increased international normalized ratio (INR) goal with resolution of thrombus on repeat imaging. ART may be an under-recognised complication in patients with CF-LVAD. Stasis of blood at the aortic root in patients with CF-LVAD may contribute to the development of ART. Management of these patients presenting with myocardial infarction should be individualised by using a multidisciplinary team approach. Our case report suggests conservative management of NSTEMI secondary to ART in patients with CF-LVAD with antiplatelet therapy and an increased INR goal as a reasonable treatment approach.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11955953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742281","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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