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Rare vascular complications in classical Ehlers-Danlos syndromes.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-260109
Caleb Wee Chung Chong, Debajyoti Chaudhuri, Krishnan Varikara
{"title":"Rare vascular complications in classical Ehlers-Danlos syndromes.","authors":"Caleb Wee Chung Chong, Debajyoti Chaudhuri, Krishnan Varikara","doi":"10.1136/bcr-2024-260109","DOIUrl":"https://doi.org/10.1136/bcr-2024-260109","url":null,"abstract":"<p><p>Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the heterogeneity of the syndrome. Reports of vascular complications in classical EDS are often limited to haematomas being the most frequent manifestation. This case report discusses an elderly patient with genetically confirmed classical EDS who suffered from a series of pulmonary and vascular complications, including recurrent spontaneous haemopneumothorax, aortic dissection and eventual mesenteric haemorrhage, which resulted in his death. Identifying clinical red flags is crucial to predict such future catastrophic vascular events and guide appropriate counselling and management strategies for individuals with classical EDS.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926621","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
Spigelian hernia and cryptorchidism syndrome: open spigelian hernia repair and laparoscopic one-stage orchiopexy for ectopic testis.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-261858
Saniya Ablatt, Mauricio Antonio Escobar
{"title":"Spigelian hernia and cryptorchidism syndrome: open spigelian hernia repair and laparoscopic one-stage orchiopexy for ectopic testis.","authors":"Saniya Ablatt, Mauricio Antonio Escobar","doi":"10.1136/bcr-2024-261858","DOIUrl":"https://doi.org/10.1136/bcr-2024-261858","url":null,"abstract":"<p><p>Spigelian hernia and cryptorchidism syndrome in children is increasingly reported in the literature. A variety of phenotypes have been reported, so diagnostic approaches and operative techniques remain poorly defined. The case of an infant male who presented with a left spigelian hernia and ipsilateral cryptorchidism who was initially misdiagnosed with an ectopic inguinal testis is presented. He underwent diagnostic laparoscopy which revealed an ectopic left testis within the spigelian hernia defect with a gubernaculum present. Collaborative decision making between paediatric surgery and paediatric urology resulted in the final operative repair entailing laparoscopic orchiopexy, open left spigelian and inguinal hernia repair, right inguinal hernia repair and umbilical hernia repair. We conclude that a laparoscopic orchiopexy of an ectopic testis within a spigelian hernia is a safe method to address this rare phenomenon, but collaborative multidisciplinary discussion is ideal to weigh operative strategies and management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926625","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
Use of novel genomic sequencing to characterise carcinoma of unknown primary (CUP) in patient with axillary lymphadenopathy.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-262574
Ian Robertson, Kulsum Shaikh, Edwin Gandia, Daniel Desmond
{"title":"Use of novel genomic sequencing to characterise carcinoma of unknown primary (CUP) in patient with axillary lymphadenopathy.","authors":"Ian Robertson, Kulsum Shaikh, Edwin Gandia, Daniel Desmond","doi":"10.1136/bcr-2024-262574","DOIUrl":"https://doi.org/10.1136/bcr-2024-262574","url":null,"abstract":"<p><p>Carcinoma of unknown primary (CUP) comprises 2-5% of cancer diagnoses worldwide, with a prevalence that has modestly declined with increased availability of advanced diagnostic tools such as next-generation sequencing (NGS). This case presentation illustrates the possibilities and gaps that remain with improving diagnostic capabilities in identifying and effectively treating CUP. This is the case of a rapidly enlarging right axillary mass without a primary tumour site and histological evaluation demonstrating a poorly differentiated neoplasm. Tumour of origin testing using a clinically validated RNA-sequencing-based machine learning classifier unexpectedly suggested greatest probability of metastatic melanoma with lesser likelihood of fibrosarcoma. Subsequent clinical behaviour and lack of response to chemoimmunotherapy conflicted with NGS results, with a multidisciplinary team ultimately agreeing on final diagnosis of aggressive soft tissue sarcoma, specifically malignant peripheral nerve sheath tumour. The patient had a complete clinical response after forequarter amputation and a sarcoma-based chemotherapy regimen. This case highlights both the potential and current shortcomings of NGS and predictive tumour of origin analytic tools in helping with characterisation and categorisation of CUP. There is a need for improvement and optimisation of these diagnostic modalities, but they offer another option to improve historically poor outcomes in CUP.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926635","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
Autonomic denervation dermatitis: an easily overlooked dermatosis.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-263854
Suyog Dhamale, Sahana Ojha, Vidyadhar R Sardesai
{"title":"Autonomic denervation dermatitis: an easily overlooked dermatosis.","authors":"Suyog Dhamale, Sahana Ojha, Vidyadhar R Sardesai","doi":"10.1136/bcr-2024-263854","DOIUrl":"https://doi.org/10.1136/bcr-2024-263854","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926436","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
Episodic headaches and cognitive decline: uncovering neuronal intranuclear inclusion disease in a young patient.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-262351
Matthew Shrimpton, Yvette Paula Gasser, Adrienne Sexton, Abhishek Malhotra
{"title":"Episodic headaches and cognitive decline: uncovering neuronal intranuclear inclusion disease in a young patient.","authors":"Matthew Shrimpton, Yvette Paula Gasser, Adrienne Sexton, Abhishek Malhotra","doi":"10.1136/bcr-2024-262351","DOIUrl":"https://doi.org/10.1136/bcr-2024-262351","url":null,"abstract":"<p><p>A male in his 20s presented with episodic headache and subsequently developed episodic unilateral weakness, dysphasia and encephalopathy. These paroxysmal episodes persisted over time with the development of background cognitive impairment and neuropsychiatric symptoms. MRI surveillance demonstrated progressive T2 hyperintensity with focal cortical oedema correlating to symptoms observed during clinical episodes.Genetic testing for hemiplegic migraine, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes along with exome sequencing and high-density microarray did not reveal a cause for the clinical phenotype. The diagnosis of neuronal intranuclear inclusion disease (NIID) was confirmed by the detection of large guanine-guanine-cytosine repeat expansion in the Notch 2 N-terminal-like C gene using long-read nanopore sequencing.NIID is a genetic neurodegenerative disease, more common in Asian populations. It can present with a varied neurological phenotype, including an episodic event type that can mimic hemiplegic migraine and encephalopathy. This case report highlights the importance of considering NIID in cases of paroxysmal headache and encephalopathy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926568","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
Isolated third cranial nerve palsy in benign idiopathic intracranial hypertension.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-260745
Sureshkumar Vellingiri, Sethuraj Selvaraj, Vignessh Raveekumaran
{"title":"Isolated third cranial nerve palsy in benign idiopathic intracranial hypertension.","authors":"Sureshkumar Vellingiri, Sethuraj Selvaraj, Vignessh Raveekumaran","doi":"10.1136/bcr-2024-260745","DOIUrl":"https://doi.org/10.1136/bcr-2024-260745","url":null,"abstract":"<p><p>Idiopathic intracranial hypertension (IIH) is marked by increased intracranial pressure without any accompanying evidence of clinical, imaging or laboratory findings of intracranial pathology. In addition to headache, nausea and vomiting, typical symptoms might also include diplopia, photophobia and blurred vision. Third nerve palsy is rarely linked to IIH, although sixth nerve palsy is reported in the majority of individuals with IIH. This paper describes the unique case of a woman patient in her 50s with solitary IIH-related oculomotor nerve palsy. Dilated pupils, ptosis and medial rectus palsy of the right side were observed during the neurological examination, and grade 1 papilledema was found during the fundus examination. Based on the features of elevated intracranial pressure observed on MRI/magnetic resonance venography and CT scans, IIH was recognised as the most plausible explanation for the patient's symptoms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926588","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
DPPX antibody-mediated disease mimicking Wernicke's encephalopathy.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-262573
Yasmin Soliman, Neha Irani, Kevin O'Connor
{"title":"DPPX antibody-mediated disease mimicking Wernicke's encephalopathy.","authors":"Yasmin Soliman, Neha Irani, Kevin O'Connor","doi":"10.1136/bcr-2024-262573","DOIUrl":"https://doi.org/10.1136/bcr-2024-262573","url":null,"abstract":"<p><p>Anti-dipeptidyl-peptidase-like protein 6 antibody-mediated disease is a rare autoimmune encephalitis typically presenting with diarrhoea and/or weight loss, central nervous system hyperexcitability and cognitive dysfunction. We present a case of a young woman with 10 days of diplopia and unsteadiness in the context of dysthymia and significant weight loss over 2 months. Initial examination demonstrated mixed dysconjugate nystagmus and ataxic gait. Presumed diagnosis was Wernicke's encephalopathy and intravenous thiamine was given, resulting in partial improvement. Subsequent examination revealed hyperekplexia with ocular flutter, cervical dystonia and startle myoclonus. Cerebrospinal fluid indirect immunofluorescence on primate cerebellum revealed granular layer pattern of staining, prompting testing for anti-dipeptidyl-peptidase-like protein antibodies, which returned strongly positive. Given the phenotypic overlap, it is important to consider this rare disorder in the differential diagnosis of Wernicke's encephalopathy. In this case, the emergence of ocular flutter, startle myoclonus and the specific type of nystagmus made it clear there was an alternative diagnosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926407","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
Pulmonary hypertension in infancy: a reversible cause.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-263731
Cassandra Campbell, Kawaljeet Singh, Mark Weems, Ranjit Philip
{"title":"Pulmonary hypertension in infancy: a reversible cause.","authors":"Cassandra Campbell, Kawaljeet Singh, Mark Weems, Ranjit Philip","doi":"10.1136/bcr-2024-263731","DOIUrl":"https://doi.org/10.1136/bcr-2024-263731","url":null,"abstract":"<p><p>A term, healthy infant presented with respiratory distress and severe pulmonary hypertension (PH). With an unclear aetiology and the intent to decrease right ventricular afterload, pulmonary vasodilators were initiated. Follow-up imaging revealed a supravalvular mitral ring as the cause of the PH which resolved after surgical resection of the membrane. Supravalvular mitral ring is a rare left-side congenital heart disease lesion that can lead to PH usually between infancy and toddler years, but can be easily missed in the setting of a concurrent large atrial septal defect that masks the gradient across the left ventricular inflow. While bronchopulmonary dysplasia is the most common cause of PH in infancy, a thorough evaluation is critical for the diagnosis of this reversible cause of PH as a missed diagnosis may redirect care with pulmonary vasodilators in the acute setting and potentially worsen the clinical status.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926620","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
Subacute haemorrhagic acalculous cholecystitis after blunt trauma in a patient on anticoagulant therapy.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-261482
Madeline Laura D'Aquila, Kate Brackett Savoie
{"title":"Subacute haemorrhagic acalculous cholecystitis after blunt trauma in a patient on anticoagulant therapy.","authors":"Madeline Laura D'Aquila, Kate Brackett Savoie","doi":"10.1136/bcr-2024-261482","DOIUrl":"https://doi.org/10.1136/bcr-2024-261482","url":null,"abstract":"<p><p>Haemorrhagic cholecystitis is an uncommon cause of abdominal pain that can lead to significant morbidity and mortality if not promptly identified and treated. Known risk factors include trauma, anticoagulation use and cholelithiasis. In a patient with right upper quadrant pain after blunt trauma on anticoagulation without cholelithiasis, haemorrhagic acalculous cholecystitis should be considered in the differential diagnosis, as appeared to be the case in the patient we present here. Fortunately, she recovered after temporisation with a cholecystostomy tube until she underwent more elective interval laparoscopic cholecystectomy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926627","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
Anaesthetic management of laparotomy in a patient with anti-NMDA receptor antibody-mediated encephalitis.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-02 DOI: 10.1136/bcr-2024-262095
Akshatha G Kamath, Deepa Baskaran, Usha R Sastry
{"title":"Anaesthetic management of laparotomy in a patient with anti-NMDA receptor antibody-mediated encephalitis.","authors":"Akshatha G Kamath, Deepa Baskaran, Usha R Sastry","doi":"10.1136/bcr-2024-262095","DOIUrl":"https://doi.org/10.1136/bcr-2024-262095","url":null,"abstract":"<p><p>Management of cases of anti-N-methyl-D-aspartate (NMDA) antibody-mediated encephalitis is very challenging to anaesthesiologists as this receptor is the target of many anaesthetics. We report a woman diagnosed with anti-NMDA antibody-mediated encephalitis posted for laparotomy. She presented with generalised tonic-clonic seizures. Testing revealed anti-NMDA antibodies and anti-SOX antibodies. Ultrasonography of the abdomen showed a right adnexal cystic lesion; hence, the patient was taken up for right ovarian cystectomy after obtaining high-risk consent. A combination of total intravenous anaesthesia with endotracheal intubation under bispectral index monitoring and bilateral transversus abdominis plane block for postoperative analgesia was administered. Postoperatively, there was no excessive drowsiness or hypoventilation. Prioritising careful monitoring and tailored anaesthesia techniques to minimise the risk of triggering neurological exacerbations while ensuring optimum surgical conditions are met is of paramount importance. Meticulous planning and careful use of resources enabled the administration of safe anaesthesia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926435","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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