BJR Case Reports最新文献

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report.

IF 0.5

BJR Case Reports Pub Date : 2025-04-01 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf009

Shreya Bhat, Sachin Sharma, Sunil Bhat, Anjana Kaul

引用次数: 0

Primary spinal meningeal melanoma with intramedullary and intradural extramedullary components-a case report.

IF 0.5

BJR Case Reports Pub Date : 2025-03-25 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf020

Robert H Bardsley, Jasmine Kimber, Kassie McCullagh

{"title":"Primary spinal meningeal melanoma with intramedullary and intradural extramedullary components-a case report.","authors":"Robert H Bardsley, Jasmine Kimber, Kassie McCullagh","doi":"10.1093/bjrcr/uaaf020","DOIUrl":"10.1093/bjrcr/uaaf020","url":null,"abstract":"Primary melanomas of the spinal meninges are exceedingly rare. While both intramedullary and extramedullary spinal melanomas have been reported, to the best of our knowledge, this is the first noted case of primary spinal melanoma that has both intramedullary and intradural extramedullary components. We present a case of a 61-year-old female presenting with a 1-year history of lower back pain, bilateral lower extremity pain, and perceived weakness of left foot. Magnetic resonance imaging of the thoracic spine suggested intramedullary and intradural extramedullary mass at levels T8-T12. A T7-T12 laminectomy with resection of the spinal cord mass revealed a pathological diagnosis of primary meningeal melanoma. This case highlights the complexity of diagnosing spinal melanomas, which often mimic more common spinal tumours such as ependymomas, astrocytomas, metastasis, or lymphoma. Often meningeal melanomas require extensive imaging and clinical evaluation to exclude other sites of potential primary melanoma. This case adds to the sparse literature by documenting a rare manifestation and could provide valuable insights into the diagnosis and management of similar cases.","PeriodicalId":45216,"journal":{"name":"BJR Case Reports","volume":"11 2","pages":"uaaf020"},"PeriodicalIF":0.5,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755236","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

CT-like MR images to assess changes after radiotherapy for bone metastasis: a case report.

IF 0.5

BJR Case Reports Pub Date : 2025-03-24 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf018

Osamu Tanaka, Takuya Taniguchi, Takuji Kiryu, Ryoshu Maejima, Chiyoko Makita, Masayuki Matsuo

{"title":"CT-like MR images to assess changes after radiotherapy for bone metastasis: a case report.","authors":"Osamu Tanaka, Takuya Taniguchi, Takuji Kiryu, Ryoshu Maejima, Chiyoko Makita, Masayuki Matsuo","doi":"10.1093/bjrcr/uaaf018","DOIUrl":"10.1093/bjrcr/uaaf018","url":null,"abstract":"Setting the echo time to zero allows for the acquisition of bone images that were otherwise difficult to obtain with conventional MRI and clear visualization of CT-like MR images. This technique is mainly useful for detecting compression fractures; however, studies examining bone tumours have been lacking. Furthermore, no reports to date have investigated the usefulness of MRI for evaluating images before and after radiotherapy (RT) for bone tumours. Therefore, plain CT and MRI (T1/T2-weighted image and CT-like MRI) were performed under the same conditions before and after radiation therapy (RT) and examined the obtained images. An 86-year-old man received RT (30 Gy/3 fraction) for painful lumbar metastasis from prostate cancer. At 2 months after RT, no changes in T2-weighted images and plain CT scans were noted, but CT-like MRI showed an increase in the signal inside the bone metastasis. Examining how the images change over time is imperative given the difficulty of predicting the duration of the pain relief effects of RT for bone metastases. Therefore, the current case report explored whether combining various modalities, such as CT and MRI, could predict prognosis. We highlight the importance of investigating whether signal changes are correlated with pain symptoms and whether MRI can be a predictor.","PeriodicalId":45216,"journal":{"name":"BJR Case Reports","volume":"11 2","pages":"uaaf018"},"PeriodicalIF":0.5,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781544","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

Isocitrate dehydrogenase 1 gene mutations: a case review unveiling its biological impact on disease progression, prognosis and treatment in Chilean patients.

IF 0.5

BJR Case Reports Pub Date : 2025-03-24 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf019

Tomás de Mayo Glasser, Benjamín García-Bloj, Juan A Godoy, Fernando Sigler Chávez, Ignacio N Retamal, Fernán Gómez-Valenzuela, Ian Silva, Matías Muñoz-Medel, Carolina Sánchez, Felipe Pinto, Paola Aravena, Ignacio Corvalán, José M Erpel, Patricio A Manque, Marcelo Garrido

{"title":"Isocitrate dehydrogenase 1 gene mutations: a case review unveiling its biological impact on disease progression, prognosis and treatment in Chilean patients.","authors":"Tomás de Mayo Glasser, Benjamín García-Bloj, Juan A Godoy, Fernando Sigler Chávez, Ignacio N Retamal, Fernán Gómez-Valenzuela, Ian Silva, Matías Muñoz-Medel, Carolina Sánchez, Felipe Pinto, Paola Aravena, Ignacio Corvalán, José M Erpel, Patricio A Manque, Marcelo Garrido","doi":"10.1093/bjrcr/uaaf019","DOIUrl":"10.1093/bjrcr/uaaf019","url":null,"abstract":"Isocitrate dehydrogenase 1 gene (IDH1, [NADP (+)] 1) encodes for an enzyme that catalyses the oxidative decarboxylation of isocitrate into α-ketoglutarate. However, it is well known that mutant IDH1 (mu/IDH1) promotes the accumulation of D2-hydroxyglutarate, an oncometabolite that stimulates tumourigenesis through various secondary, complex metabolic effects. IDH1 and also IDH2 gene mutations have been identified in several types of cancers, such as gliomas, conventional central and periosteal malignant cartilaginous tumours, cytogenetically normal acute myeloid leukaemia, and cholangiocarcinoma. Here, we present 4 cases of Chilean patients with different primary malignant tumours harbouring IDH1. One patient carried the IDH1 p. R132H mutation, the other has IDH1 p. R132L mutation, and the last 2, IDH1 p. R132C mutation. Of note, all these patients had a very poor response to chemotherapy and a rapid disease progression, resulting in a relatively swift death. Next-Generation Sequencing results highlighting mutations in those genes, and other cancer genes were further subjected to in silico study of protein-protein interactions, gene ontology, and pathway enrichment. We also include a state-of-the-art literature review about IDH1 and IDH2 molecular biology, biochemical properties, and the role of their mutations in cancer development and progression, along with insights into regional variations in cancer biology and treatment response.","PeriodicalId":45216,"journal":{"name":"BJR Case Reports","volume":"11 2","pages":"uaaf019"},"PeriodicalIF":0.5,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781548","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

A case of endovascular treatment for acute portal vein thrombosis following portal vein resection and hepatectomy for hilar cholangiocarcinoma.

IF 0.5

BJR Case Reports Pub Date : 2025-03-20 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf017

Sukru Oguz, Hakan Küçükaslan, Gokalp Altun, Dilek Basar, Serdar Topaloglu, Adnan Calik

引用次数: 0

Clinical, imaging, and biofluid correlates of Lyme polyradiculitis in a case report of neuroborreliosis.

IF 0.5

BJR Case Reports Pub Date : 2025-03-20 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf022

Michael Tran Duong, Manish Shah, Tatsiana Serhiyenia, Rani Pandya, Ashish Subedi, Charishma Bhimineni, Melissa T Duong, Michelle Heayn, Tanya Ibrahim, Gina Stefanelli, Mudita Patel

引用次数: 0

Unexpected vasogenic oedema and alexia as complications after dural arteriovenous fistula embolization.

IF 0.5

BJR Case Reports Pub Date : 2025-03-12 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf012

Yun-Hsien Ho, Hsin-Fan Chiang, Cheng-Chih Hsieh, Shih-Yang Wei, Chun-Chao Huang

{"title":"Unexpected vasogenic oedema and alexia as complications after dural arteriovenous fistula embolization.","authors":"Yun-Hsien Ho, Hsin-Fan Chiang, Cheng-Chih Hsieh, Shih-Yang Wei, Chun-Chao Huang","doi":"10.1093/bjrcr/uaaf012","DOIUrl":"10.1093/bjrcr/uaaf012","url":null,"abstract":"A 63-year-old male presented with acute onset of intermittent dizziness, visual disturbances, and left temporal headache. Investigations revealed a dural arteriovenous fistula (dAVF) at the left sigmoid sinus, classified as Cognard type IIb. Successful therapeutic transvenous embolization was performed using coils and Onyx, resulting in complete resolution of the dAVF without immediate complications. However, 3 days post-embolization, the patient developed headache, dizziness, visual discomfort, and alexia. MRI findings suggested vasogenic oedema in the left temporo-occipital area due to venous outflow obstruction. Despite treatment with enoxaparin and dexamethasone, the patient experienced progressive symptoms including difficulty in object naming, memory decline, and nonconvulsive seizures. Follow-up imaging indicated improvement of oedema and stable minimal focal gliosis. This rare case of a patient developing alexia following endovascular embolization of a dural AVF highlights the importance of post-procedural monitoring and suggests potential benefits of prophylactic anticoagulation to reduce the risk of probable complications.","PeriodicalId":45216,"journal":{"name":"BJR Case Reports","volume":"11 2","pages":"uaaf012"},"PeriodicalIF":0.5,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11925498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670158","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

A case of a paediatric chondromyxoid fibroma-like osteosarcoma.

IF 0.5

BJR Case Reports Pub Date : 2025-03-01 DOI: 10.1093/bjrcr/uaaf011

Khaoula Boumeriem, Iliass Bourekba, Nazik Allali, Latifa Chat, Siham El Haddad

引用次数: 0

Idiopathic granulomatous mastitis after mRNA vaccination against COVID-19: a possible association?

IF 0.5

BJR Case Reports Pub Date : 2025-02-20 eCollection Date: 2025-01-01 DOI: 10.1093/bjrcr/uaae048

Elisenda Vall, Vicente Araya, Lidia Tortajada, Vanessa Escobedo, Rosa Nogueiras, Javier Del Riego

引用次数: 0

A case of congenital fibular hemimelia associated with skeletal and non-skeletal malformations.

IF 0.5

BJR Case Reports Pub Date : 2025-02-18 eCollection Date: 2025-03-01 DOI: 10.1093/bjrcr/uaaf008

Mahmoud R Manasra, Rahaf E Farah, Roua E Farah, Sama S Yassin, Shadi A Abuisneina

{"title":"A case of congenital fibular hemimelia associated with skeletal and non-skeletal malformations.","authors":"Mahmoud R Manasra, Rahaf E Farah, Roua E Farah, Sama S Yassin, Shadi A Abuisneina","doi":"10.1093/bjrcr/uaaf008","DOIUrl":"10.1093/bjrcr/uaaf008","url":null,"abstract":"Fibular hemimelia (FH) is a rare congenital abnormality where the fibula is either totally or partially absent. It can occur alone or alongside other skeletal malformations, and in very few cases, it may occur along with non-skeletal anomalies. A 4-year-old female was diagnosed with unilateral right-sided FH, accompanied by limb shortening, a right-side ankle deformity, valgus foot, and 3 lateral rays that had been totally absent since the first week of birth. And she was incidentally diagnosed with spina bifida occulta at a 3-year-old age. FH is most commonly unilateral and mostly affects the right side, leads to a limb-length discrepancy, and maybe comes as a symptom of a syndrome such as Foetus-Fibula-Ulna syndrome and so on. Risk factors include prenatal history, drugs, and no supplementation intake. Together, these elements could be a contributing factor to our condition. The congenital limb abnormalities may be discovered during pregnancy by sonography. If present, other investigations need to be done to differentiate the diagnosis. Treatment according to degree: mild, moderate, and severe cases. In our case, the type 2 FH characteristic was shown by sonography, accompanied by limb shortening, lateral rays absent, and a non-skeletal anomaly (spina bifida). These anomalies very rarely come with each other at the same time. To the best of our knowledge, this case is exceptional in that FH is present at birth alongside spina bifida.","PeriodicalId":45216,"journal":{"name":"BJR Case Reports","volume":"11 2","pages":"uaaf008"},"PeriodicalIF":0.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11879310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568477","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