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Expect the unexpected: neuroblastoma in a patient with the VACTERL association.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2025-265123
Sarah Braungart, Caitlin Daff
{"title":"Expect the unexpected: neuroblastoma in a patient with the VACTERL association.","authors":"Sarah Braungart, Caitlin Daff","doi":"10.1136/bcr-2025-265123","DOIUrl":"https://doi.org/10.1136/bcr-2025-265123","url":null,"abstract":"<p><p>The VACTERL association is characterised by a variable combination of vertebral defects, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities. Malignant tumours are not usually detected in these patients.We present the case of an infant diagnosed with the VACTERL association at birth due to an anorectal malformation, cardiac and vertebral anomalies. Further imaging was obtained to investigate potential spinal cord anomalies. This scan detected an incidental left adrenal mass. Diagnostic work-up including biopsy confirmed the adrenal mass as an intermediate risk left adrenal neuroblastoma with encasement of the left renal vessels and superior mesenteric artery.To our knowledge, this is the first case of an infant patient with the VACTERL association and simultaneous diagnosis of a neuroblastoma. This case demonstrates how careful expert review of specialist imaging can incidentally reveal unexpected findings which require a significant alteration of a patient's treatment pathway.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810469","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
Paediatric extra-axial medulloblastoma presenting with obstructive hydrocephalus and tonsillar herniation: clinical presentation and treatment challenges.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-263710
Linyi Zhu, Amer Helal, Xenia Doorenbosch
{"title":"Paediatric extra-axial medulloblastoma presenting with obstructive hydrocephalus and tonsillar herniation: clinical presentation and treatment challenges.","authors":"Linyi Zhu, Amer Helal, Xenia Doorenbosch","doi":"10.1136/bcr-2024-263710","DOIUrl":"https://doi.org/10.1136/bcr-2024-263710","url":null,"abstract":"<p><p>Medulloblastoma is the most common paediatric tumour presenting in the posterior fossa. Typically, they are found midline and intra-axially located. Medulloblastomas presenting in an extra-axial location, however, are rare, and of those, they are usually found in the cerebellopontine angle. We present a case of an extra-axial medulloblastoma projecting from the lateral cerebellar hemisphere. As far as we know, there have only been two other cases of a paediatric extra-axial medulloblastoma in the cerebellar hemisphere reported in the literature. After initial medical stabilisation and insertion of an external ventricular drain, further imaging was obtained. MRI demonstrated a heterogeneously enhancing mass with diffusion restriction, a dural tail and a CSF cleft in the left lateral cerebellar hemisphere. A far lateral craniotomy was performed, with the tumour being encountered immediately on dural opening and a defined cleavage plane seen between the tumour and the cerebellar hemisphere. Gross total resection was achieved, and after a short recovery period, adjuvant craniospinal irradiation plus chemotherapy is started. This case illustrates an exceptionally rare location of a relatively common paediatric malignant brain tumour.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810208","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
Rising incidence of necrotising fasciitis: a gynaecological perspective.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-263792
Harpreet Kaur, Adeoye Adekunle, Joanne Ritchie, Suneetha Rachaneni
{"title":"Rising incidence of necrotising fasciitis: a gynaecological perspective.","authors":"Harpreet Kaur, Adeoye Adekunle, Joanne Ritchie, Suneetha Rachaneni","doi":"10.1136/bcr-2024-263792","DOIUrl":"https://doi.org/10.1136/bcr-2024-263792","url":null,"abstract":"<p><p>Necrotising fasciitis is an uncommon and rapidly progressive surgical emergency. A high index of clinical suspicion, prompt administration of broad-spectrum antibiotics and emergency surgery to debride affected tissues are key to improving survival. With our review of three cases, we aim to raise awareness of this condition among gynaecologists, who have limited familiarity with it. Two of our patients presented to emergency with vulval necrotising fasciitis while the third developed it as a complication of postoperative wound infection. All patients underwent extensive surgical debridement and required a multidisciplinary approach from gynaecologists, surgeons, the intensive care team and the tissue viability team.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810440","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
Metachronous gastro-oesophageal adenocarcinoma in a patient with colon adenocarcinoma.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2025-264826
Marcelle Meseeha, Sanyukta Dudhat, Laraib Sehrish, Maximos Attia
{"title":"Metachronous gastro-oesophageal adenocarcinoma in a patient with colon adenocarcinoma.","authors":"Marcelle Meseeha, Sanyukta Dudhat, Laraib Sehrish, Maximos Attia","doi":"10.1136/bcr-2025-264826","DOIUrl":"https://doi.org/10.1136/bcr-2025-264826","url":null,"abstract":"<p><p>A woman in her 70s, who previously declined colon cancer screening, was diagnosed with colon adenocarcinoma after she presented with melena and anaemia. After she underwent right hemicolectomy and chemotherapy for stage IIIc colon cancer, approximately 1 year later, she was found to have hepatic metastasis and a gastro-oesophageal mass confirmed as gastro-oesophageal adenocarcinoma. This case report sheds light on the challenge that patients and clinicians face in cases of metachronous cancers developing in colorectal cancer survivors, and it raises the consideration for possible improvement of the screening guidelines to help detect metachronous cancers earlier in high-risk patients, hence potentially improving the long-term outcomes for these patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810063","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
Congenital posterior fossa mass: mature cystic teratoma with severe cerebellar and brainstem compromise.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2025-265369
Hiba Sawliha Syed, Kumail Khandwala, Tamana Asghari, Kiran Hilal
{"title":"Congenital posterior fossa mass: mature cystic teratoma with severe cerebellar and brainstem compromise.","authors":"Hiba Sawliha Syed, Kumail Khandwala, Tamana Asghari, Kiran Hilal","doi":"10.1136/bcr-2025-265369","DOIUrl":"https://doi.org/10.1136/bcr-2025-265369","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810466","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
Infected umbilical urachal sinus in a neonate.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2025-265273
Estharla Akshitha, Thirunavukkarasu Arun Babu
{"title":"Infected umbilical urachal sinus in a neonate.","authors":"Estharla Akshitha, Thirunavukkarasu Arun Babu","doi":"10.1136/bcr-2025-265273","DOIUrl":"https://doi.org/10.1136/bcr-2025-265273","url":null,"abstract":"<p><p>The urachus is an embryonic tube that connects the upper portion of the bladder to the umbilicus and normally obliterates during embryonic development, forming the median umbilical ligament. Incomplete obliteration of the urachus can result in various anomalies such as congenital patent urachus, umbilical urachal sinus, vesico-urachal diverticulum and urachal cyst. We report a term neonate who presented with swelling and discharge from the umbilical region, which through clinical evaluation and radiological investigations, was diagnosed as an infected umbilical urachal sinus.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810478","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
Opalski syndrome: a rare clinical entity.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-262358
Eva Sherin Saravana Kumar, Kapil Mohan Rajwani, Ayokunle Ogungbemi, Navneet Singh
{"title":"Opalski syndrome: a rare clinical entity.","authors":"Eva Sherin Saravana Kumar, Kapil Mohan Rajwani, Ayokunle Ogungbemi, Navneet Singh","doi":"10.1136/bcr-2024-262358","DOIUrl":"https://doi.org/10.1136/bcr-2024-262358","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810178","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
Microspherophakia with an atypical temporal iris coloboma in a young female.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-264543
Aahan Shah, Subashini Kaliaperumal, Mary Stephen, Keerthana Ramachandran
{"title":"Microspherophakia with an atypical temporal iris coloboma in a young female.","authors":"Aahan Shah, Subashini Kaliaperumal, Mary Stephen, Keerthana Ramachandran","doi":"10.1136/bcr-2024-264543","DOIUrl":"https://doi.org/10.1136/bcr-2024-264543","url":null,"abstract":"<p><p>Microspherophakia is a rare congenital lens abnormality characterised by increased anterior-posterior thickness and reduced equatorial diameter, giving the lens a spherical shape. Iris coloboma, typically involving the inferonasal iris, results from incomplete fetal fissure closure. To our knowledge, this is the first reported case of microspherophakia with bilateral atypical (temporal) iris coloboma. An early adolescent patient underwent a syndromic evaluation for multiple congenital anomalies. Ophthalmological examination revealed bilateral temporal notches of the pupillary rim with intact collarettes, suggesting coloboma and strongly pigmented lens zonules with phacodonesis. Additional findings included inguinal hernia, submucosal cleft palate, mitral valve prolapse, microcephaly and high myopia. Management focused on glasses and periodic intraocular pressure monitoring due to preserved visual acuity. This case underscores the variable presentation of probable connective tissue disorders, with atypical ocular features like microspherophakia, temporal iris coloboma and lens subluxation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810071","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
Familial pulmonary fibrosis with dyskeratosis congenita associated with a rare RTEL1 gene mutation.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2025-265092
Chantal Cortesão, Leticia Balanco, Pedro Gonçalo Ferreira
{"title":"Familial pulmonary fibrosis with dyskeratosis congenita associated with a rare RTEL1 gene mutation.","authors":"Chantal Cortesão, Leticia Balanco, Pedro Gonçalo Ferreira","doi":"10.1136/bcr-2025-265092","DOIUrl":"https://doi.org/10.1136/bcr-2025-265092","url":null,"abstract":"<p><p>A subset of idiopathic pulmonary fibrosis cases has a familial component. Telomeric mutations, such as those in the <i>Regulator of Telomere Elongation Helicase</i> 1 (RTEL1) gene, have been associated with lung fibrosis and a minority of dyskeratosis congenita (DC) cases.We present the case of a A male in his 50s with pulmonary fibrosis, cryptogenic hepatic cirrhosis, chronic anaemia and thrombocytopenia, lacy skin hyperpigmentation, dystrophic nails and canities. Family history included pulmonary fibrosis in two brothers. Genetic testing identified a RTEL1 mutation (c.3730T>C, p.Cys1244Arg) in heterozygosity, linked to a few cases of pulmonary fibrosis and DC. This mutation was confirmed in one brother and two sons. The patient was started on pirfenidone and referred for respiratory rehabilitation, haematological and transplant evaluations.Recognising family history and extrapulmonary manifestations in familial pulmonary fibrosis can expedite diagnosis, treatment and genetic counselling. Early detection of DC allows timely management of bone marrow failure and malignancy screening.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810380","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
Mycobacterium haemophilum necrotising keratitis in a cornea with no prior surgical intervention.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-08 DOI: 10.1136/bcr-2024-260340
Pichanon Mingchay, Lita Uthaithammarat, Usanee Reinprayoon, Voraphoj Nilaratanakul
{"title":"<i>Mycobacterium haemophilum</i> necrotising keratitis in a cornea with no prior surgical intervention.","authors":"Pichanon Mingchay, Lita Uthaithammarat, Usanee Reinprayoon, Voraphoj Nilaratanakul","doi":"10.1136/bcr-2024-260340","DOIUrl":"https://doi.org/10.1136/bcr-2024-260340","url":null,"abstract":"<p><p>A well-managed hypertensive and dyslipidaemic female in her 60s presented with a 4 month history of progressive visual decline, ocular irritation and localised erythema in her right eye. These ocular symptoms were associated with repeated exposure to environmental water sources. Clinical evaluation revealed marked conjunctival injection, corneal oedema, diffuse stromal haze and a dense infiltrate with a 6×6 mm epithelial defect at the central cornea. A penetrating keratoplasty revealed acid-fast bacilli in the corneal pathology, confirmed as <i>Mycobacterium haemophilum</i> via the line probe assay. Mycobacterial growth was absent in culture.A comprehensive treatment regimen, including systemic amikacin, levofloxacin, rifampicin, azithromycin and topical antituberculous therapy, resulted in significant clinical improvement. This case highlights <i>M. haemophilum</i> as an infrequent cause of non-tuberculous mycobacterial keratitis. Recurrent eye contact with contaminated water was shown as a notable risk factor in the absence of prior corneal interventions.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810459","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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