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Levodopa-carbidopa related severe mixed dyskinesia in a patient with advanced Parkinson's disease admitted to the intensive care unit. 左旋多巴-卡比多巴相关的严重混合性运动障碍患者入住重症监护室。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2024-264300
Mahsa Movahedan, Kieran Shah, Robert McDermid
{"title":"Levodopa-carbidopa related severe mixed dyskinesia in a patient with advanced Parkinson's disease admitted to the intensive care unit.","authors":"Mahsa Movahedan, Kieran Shah, Robert McDermid","doi":"10.1136/bcr-2024-264300","DOIUrl":"https://doi.org/10.1136/bcr-2024-264300","url":null,"abstract":"<p><p>Parkinson's disease (PD) is characterised by motor complications that can become difficult to manage with disease progression. Certain medications used to treat PD, such as levodopa-carbidopa, can also cause motor complications. The timing and type of motor complication occurrence can provide important clues in determining the cause and help with treatment optimisation.This case report highlights the management of severe mixed dyskinesia in a critically ill PD patient admitted to the intensive care unit (ICU). The patient experienced debilitating motor complications, requiring intensive monitoring and personalised levodopa-carbidopa dose adjustments. Following the optimisation of her regimen, which included increasing the frequency of lower doses and the addition of another agent, her motor complications improved. This report underscores the need for individualised treatment strategies in advanced PD and the benefit of ICU-level close monitoring to optimise PD therapy in patients with severe dyskinesias.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118822","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
Osmotic demyelination syndrome in an alcoholic patient. 酒精患者的渗透性脱髓鞘综合征
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2025-265943
Tomoya Suzuki, Hiroyuki Yano, Junya Izena, Mitsuyo Kinjo
{"title":"Osmotic demyelination syndrome in an alcoholic patient.","authors":"Tomoya Suzuki, Hiroyuki Yano, Junya Izena, Mitsuyo Kinjo","doi":"10.1136/bcr-2025-265943","DOIUrl":"https://doi.org/10.1136/bcr-2025-265943","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118824","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
Severe neonatal hyperbilirubinaemia in preterm twins with glucose-6-phosphate dehydrogenase deficiency and UGT1A1 gene variants. 伴有葡萄糖-6-磷酸脱氢酶缺乏和UGT1A1基因变异的早产儿严重新生儿高胆红素血症
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2025-265558
Mariana Cortez Ferreira, João Filipe Nico, João Silva Gomes, Ana Lopes Dias
{"title":"Severe neonatal hyperbilirubinaemia in preterm twins with glucose-6-phosphate dehydrogenase deficiency and <i>UGT1A1</i> gene variants.","authors":"Mariana Cortez Ferreira, João Filipe Nico, João Silva Gomes, Ana Lopes Dias","doi":"10.1136/bcr-2025-265558","DOIUrl":"https://doi.org/10.1136/bcr-2025-265558","url":null,"abstract":"<p><p>Neonatal unconjugated hyperbilirubinaemia may have a multifactorial aetiology, and different conditions may act together to increase the risk of severe hyperbilirubinaemia and bilirubin-induced neurological dysfunction.We report a novel case of severe neonatal unconjugated hyperbilirubinaemia requiring treatment with exchange transfusions in two premature twins with a similar clinical presentation. The aetiological investigation revealed glucose-6-phosphate dehydrogenase (G6PD) deficiency combined with heterozygosity for two variants in the <i>UGT1A1</i> gene. These two conditions alone are common genetic causes of neonatal hyperbilirubinaemia, but the co-occurrence of both in the same patient is unusual.This case highlights a rare synergistic interaction between preterm birth, G6PD deficiency and <i>UGT1A1</i> variants in the development of a severe case of neonatal unconjugated hyperbilirubinaemia in the absence of identifiable haemolysis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118826","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 Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly. 伴有软组织肥大和毛状畸形的双侧斯特奇-韦伯综合征。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2025-265439
Shivangi Singh, Priyanka Kowe, Gitesh U Sawatkar
{"title":"Bilateral Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly.","authors":"Shivangi Singh, Priyanka Kowe, Gitesh U Sawatkar","doi":"10.1136/bcr-2025-265439","DOIUrl":"https://doi.org/10.1136/bcr-2025-265439","url":null,"abstract":"<p><p>Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous syndrome characterised by a triad of cutaneous, ocular and central nervous system findings. In the majority of the patients, it manifests as unilateral facial port-wine stain (PWS), which is a capillary malformation frequently affecting the first branch (ophthalmic division) of the trigeminal nerve. The ocular manifestations involve glaucoma and choroidal haemangiomas, whereas intracranial leptomeningeal venous angiomas form part of the central nervous system involvement. There are a few reports of bilateral PWS involving the trigeminal nerve's ophthalmic and maxillary branches. We hereby report a case of bilateral SWS associated with soft tissue hypertrophy of the lip and trichomegaly.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118879","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
Cervical osteophyte complex causing compressive myelopathy leading to a diagnosis of acromegaly. 颈椎骨赘引起压迫性脊髓病导致肢端肥大症的诊断。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2024-262123
Shilika Lalwani, Amit Nachankar, Sachin Modi, Vikram Singh Shekhawat
{"title":"Cervical osteophyte complex causing compressive myelopathy leading to a diagnosis of acromegaly.","authors":"Shilika Lalwani, Amit Nachankar, Sachin Modi, Vikram Singh Shekhawat","doi":"10.1136/bcr-2024-262123","DOIUrl":"https://doi.org/10.1136/bcr-2024-262123","url":null,"abstract":"<p><p>A young male patient presented with acute onset spastic quadriparesis. Clinically, he exhibited features of acromegaly alongside spastic quadriparesis. Neuroimaging revealed an osteophyte complex causing cord compression and canal stenosis. Biochemical and radiological assessments confirmed a growth hormone-secreting pituitary macroadenoma. He underwent anterior cervical discectomy with vertebral fusion of the cervical cord to relieve his neurological symptoms. His acromegaly was subsequently managed with surgery, followed by radiotherapy and medical therapy. While acromegaly may rarely present as a metabolic emergency, neurological emergencies are exceptionally rare. This is the first case report of acromegaly, which was recognised on presentation with an osteophyte complex causing quadriparesis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118881","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
Choriocarcinoma mimicking ectopic caesarean-scar pregnancy. 模仿异位剖腹产-瘢痕妊娠的绒毛膜癌。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2024-263968
Fathima Amanah Salih, Amelia Seifalian, Shikha Kapur
{"title":"Choriocarcinoma mimicking ectopic caesarean-scar pregnancy.","authors":"Fathima Amanah Salih, Amelia Seifalian, Shikha Kapur","doi":"10.1136/bcr-2024-263968","DOIUrl":"https://doi.org/10.1136/bcr-2024-263968","url":null,"abstract":"<p><p>Vaginal bleeding is one of the most common reasons for presentation to the early pregnancy unit. To aid in diagnosis, beta-human chorionic gonadotropin levels and ultrasound scan are commonly used. The most frequent diagnoses include miscarriage, ectopic pregnancy and cervical causes for bleeding; however, gestational trophoblastic disease (GTD) must always be ruled out. If left untreated, GTD can have fatal consequences. GTD is often associated with distinctive ultrasound findings, described as having a 'cystic' or 'snowstorm' appearance. However, it is important to consider GTD even in the absence of these features. Fewer than five cases of choriocarcinoma presenting as a caesarean-scar ectopic pregnancy have been reported. We described a rare but significant case of a patient with vaginal bleeding in early pregnancy, initially managed as a caesarean-scar ectopic pregnancy, with histology later confirming a diagnosis of choriocarcinoma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118883","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
Atrial myxoma and posterior circulation stroke. 心房黏液瘤与后循环卒中。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2024-264172
Darien Daojuin Liew, Charuka Dharmaratne
{"title":"Atrial myxoma and posterior circulation stroke.","authors":"Darien Daojuin Liew, Charuka Dharmaratne","doi":"10.1136/bcr-2024-264172","DOIUrl":"https://doi.org/10.1136/bcr-2024-264172","url":null,"abstract":"<p><p>While cardiac tumours are rare to begin with, most cardiac tumours are found to be secondary metastases and only a minority of cases are primary tumours. The most common primary cardiac tumours are myxomas. One of the rare causes of cardioembolic strokes is myxomas. A transthoracic echocardiography is an important diagnostic tool often done to exclude cardioembolic causes of stroke. The definitive treatment for cardiac myxoma is surgical resection. The majority of the myxoma-causing strokes involve the middle cerebral artery territory. We present a case of a patient with symptoms of posterior circulation stroke who had right-sided pontine and cerebellar infarct secondary to a left atrial myxoma. She had a successful surgical resection. This is a case report and a literature review on cardiac myxomas causing posterior circulation stroke.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118874","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
Strange endocardiac image in very slow motion: the clue in medical history. 慢速运动的奇怪心内膜图象：医学史上的线索。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2024-264061
Francesco Balata, Simona Costantino, Cristina Ferrari, Carlo Vignati
{"title":"Strange endocardiac image in very slow motion: the clue in medical history.","authors":"Francesco Balata, Simona Costantino, Cristina Ferrari, Carlo Vignati","doi":"10.1136/bcr-2024-264061","DOIUrl":"https://doi.org/10.1136/bcr-2024-264061","url":null,"abstract":"<p><p>This case report is about an asymptomatic patient with a medical history of cardiac surgery in which the presence of temporary epicardial pacing wires has been revealed and, subsequently, their migration into the pulmonary artery has been documented after years from surgery. The wire was successfully removed in a percutaneous interventional procedure.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118828","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
Composite haemangioendothelioma of the heart as an incidental finding in a woman in her 40s. 心脏复合性血管内皮瘤是在一位40多岁的女性身上偶然发现的。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2024-263850
Emilio Visini, Fabian Reinisch, Annina Studer Bruengger, Bernd Yuen, Nestoras Papadopoulos, Omer Dzemali
{"title":"Composite haemangioendothelioma of the heart as an incidental finding in a woman in her 40s.","authors":"Emilio Visini, Fabian Reinisch, Annina Studer Bruengger, Bernd Yuen, Nestoras Papadopoulos, Omer Dzemali","doi":"10.1136/bcr-2024-263850","DOIUrl":"https://doi.org/10.1136/bcr-2024-263850","url":null,"abstract":"<p><p>A previously healthy female patient in her 40s with no relevant medical history presented to her primary care physician with gastrointestinal symptoms. A subsequent CT scan revealed an incidental epicardial/pericardial apical mass. This mass was resected via a minimally invasive anterolateral left thoracotomy. Histological and immunohistochemical analysis revealed a composite haemangioendothelioma. After surgical removal, the patient quickly showed a good general condition and was tumour-free 6 months postresection.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118814","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
Incidental bulbar urethral glomus tumour of uncertain malignant potential with concurrent prostate cancer. 偶发尿道球静脉球瘤，恶性潜能不确定，并发前列腺癌。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-21 DOI: 10.1136/bcr-2025-264852
Bryce Stewart, Daniel Wong, Martin Marshall, Mikhail Lozinskiy
{"title":"Incidental bulbar urethral glomus tumour of uncertain malignant potential with concurrent prostate cancer.","authors":"Bryce Stewart, Daniel Wong, Martin Marshall, Mikhail Lozinskiy","doi":"10.1136/bcr-2025-264852","DOIUrl":"https://doi.org/10.1136/bcr-2025-264852","url":null,"abstract":"<p><p>We present a case of a man in his 60s with an incidental bulbar urethral glomus tumour on investigation for an elevated prostate specific antigen (PSA) with a concurrent diagnosis of prostatic adenocarcinoma with Gleason 3+4 pattern. Glomus tumours are a rare entity in the genitourinary tract. When greater than 2 cm the malignant potential is unreported. Penectomy for a benign lesion can be psychosocially devastating however the differential diagnosis of sarcoma is aggressive and life-threatening. MRI is the gold standard to characterise the lesion and plan surgical excision. An organ-sparing approach was undertaken in a centralised penile cancer institution. Definitive prostate cancer treatment was delayed with comprehensive patient counselling until histopathology confirmed the benign nature of the urethral tumour and the primary anastomosis had healed. Radical prostatectomy was subsequently performed. A multidisciplinary approach to rare tumour types is strongly reinforced by this case.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118816","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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