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Naso-conjunctival fistula: a rare variant managed with vascularised galea-pericranium flap.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-03 DOI: 10.1136/bcr-2024-263759
Parampreet Singh Saini, Kajal Mehta, Navneet Sharma, Rajesh Kumar
{"title":"Naso-conjunctival fistula: a rare variant managed with vascularised galea-pericranium flap.","authors":"Parampreet Singh Saini, Kajal Mehta, Navneet Sharma, Rajesh Kumar","doi":"10.1136/bcr-2024-263759","DOIUrl":"https://doi.org/10.1136/bcr-2024-263759","url":null,"abstract":"<p><p>Naso-conjunctival fistula is a rare complication of endoscopic tumour resection. There is a composite deficiency of supporting medial orbital wall and the mucosal linings. A resilient but pliable flap is needed to form the partition, anchor the medial canthus and fill up the orbital volume defect. We present a case of a man in his late 70s having a fistula in the left eye with complaints of air blows during breathing and frequent epiphora for 6 months. He had a lax lower eyelid with clinically evident enophthalmos. The patient was previously operated for locally invasive inverted papilloma. The radiology of the face showed absent medial and inferior orbital walls. The galea-pericranium flap was harvested, tunnelled into the defect and fixed inferiorly to the maxillary periosteum. The fistula got closed and the epiphora improved with no air reflux at subsequent follow-ups. A secondary medial canthal suspension was done at 2 months for a lax lower eyelid.</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":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787856","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
Tubercular osteomyelitis masquerading as acute dacryoadenitis.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-03 DOI: 10.1136/bcr-2024-264740
Aarushi Saini, Jolly Rohatgi, Rajender Prasad, Anupama Tandon
{"title":"Tubercular osteomyelitis masquerading as acute dacryoadenitis.","authors":"Aarushi Saini, Jolly Rohatgi, Rajender Prasad, Anupama Tandon","doi":"10.1136/bcr-2024-264740","DOIUrl":"10.1136/bcr-2024-264740","url":null,"abstract":"<p><p>A girl in her second decade of life presented with a painful, progressively increasing S-shaped swelling of the right upper lid, suggestive of acute dacryoadenitis. She had a history of close contact with a tuberculosis (TB) patient. Despite improvement in preseptal cellulitis with broad-spectrum (non-tubercular) systemic antibiotics, a fluctuant swelling persisted. After resolution of preseptal cellulitis, a CT scan revealed possible tubercular osteomyelitis of the lateral orbital wall and a cold abscess in the right orbit. Ultrasonography-guided drainage of the abscess was performed, and the sample tested positive for Cartridge-based Nucleic Acid Amplification Test, confirming TB. The patient was started on antituberculosis treatment, leading to complete resolution of the swelling with no recurrence during a 2-year follow-up. This case emphasises the importance of maintaining a high index of suspicion for TB in cases of dacryoadenitis unresponsive to antibiotics, especially in endemic regions like India.</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/PMC11969327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787833","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
Endometrial cancer recurrence presenting as anterior abdominal wall necrotising fasciitis.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-263718
Indira Josephine Barrow, Steven Ronald Paredes, Kasia Siwicki, Jonathan Reddipogu
{"title":"Endometrial cancer recurrence presenting as anterior abdominal wall necrotising fasciitis.","authors":"Indira Josephine Barrow, Steven Ronald Paredes, Kasia Siwicki, Jonathan Reddipogu","doi":"10.1136/bcr-2024-263718","DOIUrl":"https://doi.org/10.1136/bcr-2024-263718","url":null,"abstract":"<p><p>Endometrial cancer is the second leading cause of malignancy in women worldwide. Risk of recurrence and treatment depends on tumour grade, stage and more recently, molecular classification. This case details an atypical presentation of endometrial cancer recurrence. A postmenopausal woman presented to hospital in septic shock with anterior abdominal wall necrotising fasciitis. She was 5 years into her surveillance for FIGO (International Federation of Gynaecology and Obstetrics) Grade III, Stage IIIA mixed endometrioid and clear cell endometrial adenocarcinoma, treated by total abdominal hysterectomy, bilateral salpingo-oophorectomy, vaginal brachytherapy, radiotherapy and chemotherapy. Necrotising fasciitis was localised to a fluid collection associated with biological mesh on the anterior abdominal wall. Histopathology and cytology of the fluid collection revealed high-grade serous endometrial carcinoma. Recurrence in the incision has previously been described in the literature, however not as a fluid collection in association with biological mesh nor causing necrotising fasciitis of the anterior abdominal wall.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779062","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
Neonate with developmental and epileptic encephalopathy 81 (DEE81): lessons learnt and future implications.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-260508
Anshika Mishra, Prerna Priyadarshini, Shalini Tripathi, Mala Kumar
{"title":"Neonate with developmental and epileptic encephalopathy 81 (DEE81): lessons learnt and future implications.","authors":"Anshika Mishra, Prerna Priyadarshini, Shalini Tripathi, Mala Kumar","doi":"10.1136/bcr-2024-260508","DOIUrl":"https://doi.org/10.1136/bcr-2024-260508","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathy 81 (DEE81) presents a complex challenge in diagnosis and management due to its rarity and diverse clinical manifestations. Here, we report the case of a neonate born from a consanguineous marriage, presenting with refractory focal seizures shortly after birth. Despite initial treatment with multiple antiepileptics, seizures persisted, prompting a thorough diagnostic evaluation. Through advanced genomic testing, a homozygous nonsense variant in the DMXL2 gene was identified, leading to the diagnosis of DEE81. This case underscores the importance of considering genetic aetiologies in neonates with early-onset seizures and highlights the value of targeted genetic analysis in guiding personalised management strategies. Our findings contribute to the understanding of DEE81 and emphasise the need for collaborative efforts to improve diagnostic accuracy and therapeutic interventions for affected individuals.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779123","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
Chronic encapsulated intracerebral haematoma following stereotactic radiosurgery for cerebral arteriovenous malformation.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-263164
Yoojin Choi, Alexander D Rebchuk, Michael McKenzie, Charles S Haw
{"title":"Chronic encapsulated intracerebral haematoma following stereotactic radiosurgery for cerebral arteriovenous malformation.","authors":"Yoojin Choi, Alexander D Rebchuk, Michael McKenzie, Charles S Haw","doi":"10.1136/bcr-2024-263164","DOIUrl":"https://doi.org/10.1136/bcr-2024-263164","url":null,"abstract":"<p><p>Chronic encapsulated intracerebral haematoma (CEIH) is a rare, delayed complication of stereotactic radiosurgery (SRS) for intracranial arteriovenous malformations. There are no evidence-based guidelines for CEIH management. Current practice patterns range from conservative management with steroids to surgical excision. Here, we report a very delayed case of CEIH that ultimately required surgical resection 24 years following SRS. To our knowledge, this is one of the longest documented cases of recurrent haemorrhages secondary to CEIH, which failed extensive attempts at conservative treatments including steroids, hyperbaric oxygen, vitamin E and pentoxifylline. This case suggests early surgical intervention may be warranted to prevent persistent and recurrent haemorrhages.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779041","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
Pneumococcal meningitis presenting as stroke: a diagnostic challenge.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-264753
Yoshinosuke Kurakake, Hiroyuki Yano, Mitsuyo Kinjo
{"title":"Pneumococcal meningitis presenting as stroke: a diagnostic challenge.","authors":"Yoshinosuke Kurakake, Hiroyuki Yano, Mitsuyo Kinjo","doi":"10.1136/bcr-2024-264753","DOIUrl":"https://doi.org/10.1136/bcr-2024-264753","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779124","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
Meleney's gangrene following abdominal hysterectomy: a rare and devastating complication.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-264631
Arjun Pant, Navya Chinta, Haritha Sagili, Chitra Thyagaraju
{"title":"Meleney's gangrene following abdominal hysterectomy: a rare and devastating complication.","authors":"Arjun Pant, Navya Chinta, Haritha Sagili, Chitra Thyagaraju","doi":"10.1136/bcr-2024-264631","DOIUrl":"https://doi.org/10.1136/bcr-2024-264631","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779122","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
Leucine-rich glioma-inactivated protein 1 antibody-positive limbic encephalitis in a patient with an early-stage asymptomatic breast cancer.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-261902
Maria Fernanda Niño Uribe, Gilles Van Cutsem, Philippe Kerschen
{"title":"Leucine-rich glioma-inactivated protein 1 antibody-positive limbic encephalitis in a patient with an early-stage asymptomatic breast cancer.","authors":"Maria Fernanda Niño Uribe, Gilles Van Cutsem, Philippe Kerschen","doi":"10.1136/bcr-2024-261902","DOIUrl":"10.1136/bcr-2024-261902","url":null,"abstract":"<p><p>Our patient is a woman who developed a subacute amnestic syndrome, followed by cognitive impairment, headache, temporal lobe epilepsy and hyponatraemia. An early-stage asymptomatic breast cancer was identified on positron emission tomography (PET) scan. After treatment with immunotherapy with high-dose corticosteroids, intravenous immunoglobulins, upfront rituximab and excision of the tumour, the patient gradually recovered. Partial retrograde and anterograde amnesia persisted during the initial weeks, followed by slow and steady improvement. Autoimmune encephalitis is a severe neurological disorder associated with antibodies against neuronal cell-surface or intracellular onconeural proteins. Anti-leucine-rich glioma inactivated 1 (LGI1) predominantly affects males in the seventh decade of life, and less than 10% of all cases are associated with cancer. Paraneoplastic cases have been associated with malignant thymoma, neuroendocrine tumours and mesothelioma and usually had Morvan syndrome, in which serum antibodies are more frequently directed against CASPR2 than against LGI1. We report the first well-documented case of anti-LGI1 limbic encephalitis in a woman with newly diagnosed breast cancer.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779121","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
Herpes zoster infection in a patient with relapsing-remitting multiple sclerosis treated with diroximel fumarate.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-264081
John Dempsey, Alexandra Balshi, Jacob Sloane
{"title":"Herpes zoster infection in a patient with relapsing-remitting multiple sclerosis treated with diroximel fumarate.","authors":"John Dempsey, Alexandra Balshi, Jacob Sloane","doi":"10.1136/bcr-2024-264081","DOIUrl":"https://doi.org/10.1136/bcr-2024-264081","url":null,"abstract":"<p><p>We present a case of a woman in her 50s with relapsing-remitting multiple sclerosis, treated with diroximel fumarate, who developed an itching, burning vesicular rash following a C3 dermatomal distribution on her left face and neck. She was diagnosed with herpes zoster, treated with valacyclovir and gabapentin, and made a full recovery. Ensuring patients are protected against varicella-zoster virus before starting diroximel fumarate can prevent this painful infection. Thus, we recommend vaccination against the varicella-zoster virus prior to diroximel fumarate initiation be incorporated as the standard of care.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779071","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
Recurrent vismodegib drug-induced liver injury with corticosteroid response.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-264500
Maya Bienz, Kate Fife, Anna Paterson, Gwilym Webb
{"title":"Recurrent vismodegib drug-induced liver injury with corticosteroid response.","authors":"Maya Bienz, Kate Fife, Anna Paterson, Gwilym Webb","doi":"10.1136/bcr-2024-264500","DOIUrl":"https://doi.org/10.1136/bcr-2024-264500","url":null,"abstract":"<p><p>SummaryA man in his 60s with a history of multiple basal cell carcinomas was started on vismodegib, a Hedgehog signalling pathway inhibitor. Despite initial clinical response, he developed asymptomatic drug-induced liver injury (DILI) with elevated alanine transaminase (ALT) after 7 weeks of treatment. Vismodegib was stopped, and liver chemistry normalised. On rechallenge, ALT levels rose significantly higher, requiring discontinuation of vismodegib. However, despite discontinuation, ALT levels continued to rise, as did bilirubin levels. Liver biopsy confirmed inflammatory infiltrate primarily affecting the lobule with hepatocyte cell loss, consistent with DILI, and prednisolone was started. Liver function rapidly improved on prednisolone, and liver chemistry has remained normal since cessation of both vismodegib and prednisolone. This case highlights the need for careful liver monitoring in patients on vismodegib, emphasising the potential for significant DILI on re-exposure.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779127","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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