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Optical penetrating keratoplasty using a living donor eye. 使用活体供体眼的光学穿透性角膜移植术。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2025-264854
Sonal Vyas, Vijaya Sahu, Sharmila Shankar, Aseem Kumar, Shivani Shrivastava
{"title":"Optical penetrating keratoplasty using a living donor eye.","authors":"Sonal Vyas, Vijaya Sahu, Sharmila Shankar, Aseem Kumar, Shivani Shrivastava","doi":"10.1136/bcr-2025-264854","DOIUrl":"https://doi.org/10.1136/bcr-2025-264854","url":null,"abstract":"<p><p>Keratoplasty is a common surgical procedure for correcting corneal opacity-induced blindness. Typically, donor corneas are sourced from deceased individuals. Live donation is rare, due to potential donor blindness, except in exceptional circumstances. We present a case of an optical penetrating keratoplasty performed using a cornea from a live donor in his late 40s who had complete traumatic auto-enucleation of the eyeball following a road traffic accident. This shows us that live donations can be considered in specific circumstances, such as traumatic avulsion of the globe with an intact cornea, rendering the eye non-salvageable.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708105","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 amoxicillin-induced aseptic meningitis. 阿莫西林引起的复发性无菌性脑膜炎。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-262311
Jasmine Banner, Kathryn Krulisky, Elizabeth Frakes
{"title":"Recurrent amoxicillin-induced aseptic meningitis.","authors":"Jasmine Banner, Kathryn Krulisky, Elizabeth Frakes","doi":"10.1136/bcr-2024-262311","DOIUrl":"10.1136/bcr-2024-262311","url":null,"abstract":"<p><p>A woman in her 70s presented to the emergency department with a 1 day history of headache, sore throat and neck pain after taking prophylactic amoxicillin for dental work. She had two prior hospitalisations for presumed viral meningitis. Examination was unremarkable except for neck extension pain. Labs showed neutrophil predominance (92.8%) with cerebrospinal fluid lymphocytosis and elevated protein. CT revealed a 3 mm right tonsillar abscess. Initially improving with symptomatic care, she later developed vomiting, headache and fever after receiving Augmentin for the abscess, inadvertently confirming an amoxicillin allergy. She was discharged after 72 hours but re-presented with persistent symptoms and was ultimately discharged on hospital day 5. At follow-up, she reported residual weakness and fatigue. Amoxicillin-induced aseptic meningitis is rare but should be considered in patients with non-specific meningoencephalitis symptoms after amoxicillin exposure. Diagnosis relies on symptom timing and exclusion of other causes, with management involving discontinuation and supportive care.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708198","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
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD). 急性脑病在新生儿：诊断奥德赛导致枫糖浆尿病（MSUD）。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-263603
Neeraj Mishra, Keshav Kumar Pathak, Santosh Prasad, Divya Mishra
{"title":"Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).","authors":"Neeraj Mishra, Keshav Kumar Pathak, Santosh Prasad, Divya Mishra","doi":"10.1136/bcr-2024-263603","DOIUrl":"https://doi.org/10.1136/bcr-2024-263603","url":null,"abstract":"<p><p>We report a rare case of a term neonate presented with seizure, encephalopathy and respiratory distress, with an initial sepsis screen, serum electrolytes, blood sugar and cerebrospinal fluid (CSF) examination revealing no abnormalities. However, CT scan and MRI showed diffuse brain white matter oedema, and tandem mass spectroscopy and gas chromatography revealed elevated levels of branched chain amino acids and their ketoacids and hydroxy acids in urine. Clinical exome sequencing confirmed a mutation in the <i>BCKDHB</i> gene, diagnosing classical variety of maple syrup urine disease (MSUD). The baby was managed with high glucose infusion and a specialised branched-chain amino acid-free formula. This case highlights the importance of considering inborn error of metabolism (IEM) in neonates with encephalopathy and negative sepsis screens, using advanced imaging and metabolomics for timely and accurate diagnosis, prompt management to prevent ongoing encephalopathy and optimise long-term neurodevelopmental outcome. Early recognition and intervention in IEM cases can significantly impact patient outcomes, highlighting the need for a multidisciplinary approach to diagnosis and treatment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708416","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
Colonic malakoplakia. 结肠软化斑。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2025-265174
Abdulmalik Saleem, Murtaza Hussain, Shula Schechter, Matthew B Sturm
{"title":"Colonic malakoplakia.","authors":"Abdulmalik Saleem, Murtaza Hussain, Shula Schechter, Matthew B Sturm","doi":"10.1136/bcr-2025-265174","DOIUrl":"https://doi.org/10.1136/bcr-2025-265174","url":null,"abstract":"<p><p>Colonic malakoplakia is a rare granulomatous inflammatory condition that can cause abdominal pain, diarrhoea and rectal bleeding and be associated with colon adenocarcinoma. Chronic bacterial infections with defective lysosomal activity in macrophages are possible causes for malakoplakia. We present a case report of asymptomatic colonic malakoplakia in an otherwise healthy woman undergoing a screening colonoscopy for colorectal cancer. Limited case reports and treatment guidance are available for colonic malakoplakia with only a few dozen cases in the literature. Given the potential morbidity and mortality associated with this condition, we emphasise the importance of thorough diagnostic and therapeutic evaluation even in asymptomatic patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708450","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
False impression of a ventriculoperitoneal shunt catheter fracture in a stitched X-ray image. 在缝合的x线图像中，心室腹腔分流管断裂的假影。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264312
Rebecca Hodnett, Desire Gihana Ngoga, Richard J Edwards, William G B Singleton
{"title":"False impression of a ventriculoperitoneal shunt catheter fracture in a stitched X-ray image.","authors":"Rebecca Hodnett, Desire Gihana Ngoga, Richard J Edwards, William G B Singleton","doi":"10.1136/bcr-2024-264312","DOIUrl":"https://doi.org/10.1136/bcr-2024-264312","url":null,"abstract":"<p><p>Radiological 'stitching' can be used on plain X-ray images to combine several images and is often used in scoliosis for the visualisation of the whole spine. However, for those unaccustomed to radiological stitching, interpretation of these images requires caution as artefacts can be generated of surrounding structures in their processing stage. As described in this report, it is not uncommon for children with neurological diseases to have both neurosurgical pathology and scoliosis. Here we describe the appearance of a ventriculoperitoneal shunt fracture from a stitched image.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708483","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
Metastatic invasive lobular breast carcinoma of the right orbit with no clinical or radiological evidence of a primary breast cancer. 右眼眶转移性浸润性小叶性乳腺癌，无原发性乳腺癌的临床或影像学证据。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-260996
Petya Popova, Peter Glasman
{"title":"Metastatic invasive lobular breast carcinoma of the right orbit with no clinical or radiological evidence of a primary breast cancer.","authors":"Petya Popova, Peter Glasman","doi":"10.1136/bcr-2024-260996","DOIUrl":"https://doi.org/10.1136/bcr-2024-260996","url":null,"abstract":"<p><p>Orbital metastases are very rare, particularly as an initial presentation feature of occult breast cancer. This is a case of orbital metastasis from an occult lobular breast carcinoma in a woman in her mid-70s, who presented with symptoms of gradual visual deterioration. Prompt and extensive investigations led to the diagnosis of metastatic orbital lobular carcinoma in the absence of clinically or radiologically evident primary breast cancer. This occurred independent of a previously treated ductal breast carcinoma history.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708562","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
Minocycline-induced skin hyperpigmentation. 米诺环素引起的皮肤色素沉着。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264463
Masashi Nishikubo, Daisuke Yamashita, Hiroaki Nishioka
{"title":"Minocycline-induced skin hyperpigmentation.","authors":"Masashi Nishikubo, Daisuke Yamashita, Hiroaki Nishioka","doi":"10.1136/bcr-2024-264463","DOIUrl":"https://doi.org/10.1136/bcr-2024-264463","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707961","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-traumatic avulsion of a leiomyoma. 平滑肌瘤的非创伤性撕脱。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-261792
Colm Coyne, Workineh Getaneh Tadesse
{"title":"Non-traumatic avulsion of a leiomyoma.","authors":"Colm Coyne, Workineh Getaneh Tadesse","doi":"10.1136/bcr-2024-261792","DOIUrl":"https://doi.org/10.1136/bcr-2024-261792","url":null,"abstract":"<p><p>A patient in her 30s was referred to our Gynaecology Outpatient Department due to symptomatic leiomyoma which was first identified during her first pregnancy. An MRI performed postnatally confirmed a 10.5 cm leiomyoma. The patient was experiencing heavy menstrual bleeding and intermittent pelvic pain presumed to be secondary to a pressure effect. Treatment options were discussed, and it was decided to proceed with open myomectomy. On entry to the abdomen, the leiomyoma was free floating with no uterine attachment and only held loosely to the dome of the bladder, sigmoid colon and the left fallopian tube by filmy adhesions.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707992","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
Identification of a novel pathogenic variant in the LPL gene in lipaemia retinalis in an infant. 鉴定一种新的致病性变异的LPL基因在婴儿视网膜脂血症。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-259965
Shilpi Arya, Sandeep Saxena
{"title":"Identification of a novel pathogenic variant in the <i>LPL</i> gene in lipaemia retinalis in an infant.","authors":"Shilpi Arya, Sandeep Saxena","doi":"10.1136/bcr-2024-259965","DOIUrl":"https://doi.org/10.1136/bcr-2024-259965","url":null,"abstract":"<p><p>An infant presented to the paediatric emergency department of our tertiary care centre, with failure to thrive and frequent vomiting for the past 2 days. Venous blood samples appeared pale pink. Bedside smartphone-assisted fundus examination revealed a bilateral salmon-coloured retina with creamy vasculature, suggesting lipaemia retinalis. Serum triglyceride levels of 12 100.7 mg/dL were observed. Exome sequencing confirmed the diagnosis. A novel homozygous missense variant p.Cys 291Tyr (c.872G>A) pathogenic variant in exon 6 of the lipoprotein lipase (<i>LPL</i>) gene was discovered. The infant was advised to undergo dietary modification and to follow-up regularly. At 1 year follow-up, the child was thriving on a low-fat diet. However, fundus examination findings persisted.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708425","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
When technique matters: addressing inhaler misuse in a middle childhood girl with asthma. 当技术很重要：解决儿童中期哮喘女孩吸入器滥用问题。
IF 0.6
BMJ Case Reports Pub Date : 2025-03-25 DOI: 10.1136/bcr-2024-264752
Mallanagouda M Patil, Ramkrishna Paraddi, Cauvery B Shethe, Prasanna Kumar Bm
{"title":"When technique matters: addressing inhaler misuse in a middle childhood girl with asthma.","authors":"Mallanagouda M Patil, Ramkrishna Paraddi, Cauvery B Shethe, Prasanna Kumar Bm","doi":"10.1136/bcr-2024-264752","DOIUrl":"https://doi.org/10.1136/bcr-2024-264752","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708444","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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