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Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation. 颅干骺端发育不良导致脑积水和Chiari畸形。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2025-266574
Leigh Cui, Priya Kadam, Jamie Campbell, Chandrasekaran Kaliaperumal
{"title":"Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.","authors":"Leigh Cui, Priya Kadam, Jamie Campbell, Chandrasekaran Kaliaperumal","doi":"10.1136/bcr-2025-266574","DOIUrl":"https://doi.org/10.1136/bcr-2025-266574","url":null,"abstract":"<p><p>We describe a case of craniometaphyseal dysplasia (CMD) that was initially misdiagnosed as craniodiaphyseal dysplasia (CDD). CMD and CDD are both rare genetic disorders affecting the craniofacial and tubular bones, due to <i>ANKH</i> and <i>SOST</i> gene mutations, respectively, causing similar defects in the control of bone mineralisation.The patient is male, who has been followed longitudinally from birth to his mid-teens, touching on important milestones concerning misdiagnosis and management of CMD. We discuss relevant investigations, diagnosis of <i>ANKH</i> mutation on genetic testing and neurosurgical management, as the patient successfully underwent foramen magnum decompression for secondary Chiari I malformation. We refer to the patient as 'proband' as he is the first in his family diagnosed with a genetic condition.This study highlights the importance of correct identification of the underlying diagnosis as this can affect management. Surgical intervention can be challenging but can successfully manage life-threatening complications of this condition.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607363","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
Improvement of bullous pemphigoid following salvage radiation in PSA-recurrent prostate cancer: a potential paraneoplastic association. 前列腺癌复发后补救性放射治疗后大疱性类天疱疮的改善：潜在的副肿瘤关联。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2025-265542
Michael Shen Lee, Donna Aline Culton, Ryan Everett Fecteau, Andrew Armstrong
{"title":"Improvement of bullous pemphigoid following salvage radiation in PSA-recurrent prostate cancer: a potential paraneoplastic association.","authors":"Michael Shen Lee, Donna Aline Culton, Ryan Everett Fecteau, Andrew Armstrong","doi":"10.1136/bcr-2025-265542","DOIUrl":"https://doi.org/10.1136/bcr-2025-265542","url":null,"abstract":"<p><p>This case describes a man in his 70s with a 12-year history of bullous pemphigoid (BP) and recurrent prostate cancer, both diagnosed in the same year. Initially managed with active surveillance, his prostate cancer progressed, requiring hormonal therapy, surgery, and, eventually due to recurrence, salvage radiation therapy (RT). Concurrently, his BP, characterised by blistering skin lesions, was managed with corticosteroids, azathioprine and methotrexate, though full control of disease activity was difficult. Following salvage RT and androgen deprivation therapy, his prostate-specific antigen (PSA) levels and BP improved significantly, leading to prostate cancer remission and near resolution of his BP.The patient continues methotrexate, with stable PSA and only minor localised BP activity. The temporal relationship between his prostate cancer and BP, including their simultaneous onset, recurrence and remission, suggests a possible paraneoplastic link. Understanding this relationship is crucial for accurate prognosis and effective treatment for men with prostate cancer and associated paraneoplastic syndromes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607364","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
3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. 3-甲基丁基辅酶a羧化酶缺乏症儿童发育倒退和迟缓：呼吁早期诊断和多学科方法。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2024-262865
Muhammad Moazzam Gulzar, Zulfiqar Ali Sarani, Muhammad Tariq, Ina Knerr
{"title":"3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach.","authors":"Muhammad Moazzam Gulzar, Zulfiqar Ali Sarani, Muhammad Tariq, Ina Knerr","doi":"10.1136/bcr-2024-262865","DOIUrl":"https://doi.org/10.1136/bcr-2024-262865","url":null,"abstract":"<p><p>3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (3-MCC-D) is an autosomal recessive disorder with a variable phenotype. Reduced 3-MCC enzyme activity results in impaired leucine metabolism causing, for example, metabolic acidosis, ketotic hypoglycaemia and carnitine deficiency. The spectrum of clinical presentation is wide, ranging from severe early-onset presentations to incidental findings in asymptomatic individuals. This report describes the case of a young girl who underwent dramatic developmental regression at 11 months of age, following a respiratory tract infection. Metabolic investigations revealed high excretions of urinary 3-methylcrotonylglycine and 3-hydroxyisovaleric acid, consistent with 3-MCC-D. Treatment was commenced immediately, including carnitine, biotin and moderate dietetic modifications. Molecular genetic investigations confirmed compound heterozygosity for two pathogenic variants in the <i>MCCC1</i> gene, Trp358Cysfs*13 and duplication of exons 2 and 3. Now in middle childhood, the girl is meeting all her developmental milestones and has had no metabolic decompensation in 6 years of follow-up.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607360","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
Profound anaemia and thrombocytosis due to hidradenitis suppurativa. 化脓性汗腺炎引起的深度贫血和血小板增多症。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2024-261427
Jamil Abou Issa, David Cheng, Alison Greidinger, Camille Introcaso, Marlena Klein
{"title":"Profound anaemia and thrombocytosis due to hidradenitis suppurativa.","authors":"Jamil Abou Issa, David Cheng, Alison Greidinger, Camille Introcaso, Marlena Klein","doi":"10.1136/bcr-2024-261427","DOIUrl":"https://doi.org/10.1136/bcr-2024-261427","url":null,"abstract":"<p><p>This case presents a woman in her late 50s with hidradenitis suppurativa (HS) who presented for weight loss, syncope and dyspnoea. Labs revealed severe microcytic anaemia, thrombocytosis and leucocytosis. Despite initial uncertainties, further investigation pointed towards multifactorial anaemia suspected from iron deficiency and chronic inflammation associated with HS. Differential diagnoses included malignancy, heart failure, pulmonary embolism and gastrointestinal bleed-related anaemia, which were ruled out through comprehensive examinations. The treatment involved systemic steroids, doxycycline and adalimumab for HS, along with blood transfusions and iron supplementation for anaemia. Follow-up showed significant improvement in symptoms and laboratory results, affirming the efficacy of the treatment regimen. This discussion demonstrates the profound haematologic derangements that can occur in severe HS. Although the precise aetiology of anaemia in HS is sometimes ambiguous, managing both conditions concurrently is crucial, given their impact on patient outcomes and healthcare costs.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607305","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
Ocular syphilis presenting as panuveitis: a management approach for the non-uveitis specialist. 眼梅毒表现为全葡萄膜炎：非葡萄膜炎专科的管理方法。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2024-260699
Ann O'Connell, Robert Castledine, Duncan Rogers, Tomás Burke
{"title":"Ocular syphilis presenting as panuveitis: a management approach for the non-uveitis specialist.","authors":"Ann O'Connell, Robert Castledine, Duncan Rogers, Tomás Burke","doi":"10.1136/bcr-2024-260699","DOIUrl":"https://doi.org/10.1136/bcr-2024-260699","url":null,"abstract":"<p><p>We describe the challenging clinical scenario of an adult male presenting with acute, uniocular, sight-threatening panuveitis to a tertiary eye emergency department. Clinically, this was characterised by painless anterior chamber inflammation and significant vitritis, precluding clear fundal view.We outline the initial approach to establishing an appropriate working diagnosis, the laboratory investigations, multimodal imaging undertaken and empirical treatment administered in the first instance for imminently sight-threatening infectious causes. The principles described may be applied to other cases of panuveitis in an emergency setting, particularly with the non-uveitis specialist in mind. We emphasise the importance of considering the overall systemic health of the patient and possible associated or causative systemic disease. Finally, we include multimodal imaging that demonstrates features of acute syphilitic posterior placoid chorioretinitis and the ocular response to treatment coinciding with visual recovery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607365","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
Ankyloblepharon filiforme adnatum.
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2025-266498
Carlota Ferreirinha Lopes, Diogo Fortunato, Ana Luísa Rebelo, Laura Martins
{"title":"Ankyloblepharon filiforme adnatum.","authors":"Carlota Ferreirinha Lopes, Diogo Fortunato, Ana Luísa Rebelo, Laura Martins","doi":"10.1136/bcr-2025-266498","DOIUrl":"https://doi.org/10.1136/bcr-2025-266498","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607361","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
Ascending aortic dissection complicated by aortic right ventricular fistula. 升主动脉夹层合并主动脉右心室瘘。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-10 DOI: 10.1136/bcr-2025-266630
Ricky Patil, Jacqueline Elise Woo, Alexander Hien Vu, Mikhail Vaynblat
{"title":"Ascending aortic dissection complicated by aortic right ventricular fistula.","authors":"Ricky Patil, Jacqueline Elise Woo, Alexander Hien Vu, Mikhail Vaynblat","doi":"10.1136/bcr-2025-266630","DOIUrl":"https://doi.org/10.1136/bcr-2025-266630","url":null,"abstract":"<p><p>This is a case of a man in his 60s with a history of previous aortic valve replacement, atrial fibrillation and non-ischaemic cardiomyopathy, who presents with a Stanford type A aortic dissection. The patient underwent emergent ascending aorta replacement. Intraoperatively, a large, dissected aneurysm was found. The false lumen, located between the aorta and PA, extended and perforated into the right ventricular outflow tract. The dissection originated from the previous surgical aortotomy line, with a component located at the right coronary ostium. Hence, the patient underwent successful ascending aortic replacement, patch repair of his aorto-cameral fistula and primary repair of the right coronary ostium.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607362","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-bacterial thrombotic endocarditis leading to the diagnosis of pancreatic adenocarcinoma. 非细菌性血栓性心内膜炎导致胰腺腺癌的诊断。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-08 DOI: 10.1136/bcr-2025-266289
Aron Velco, Matthias Philip Nägele, Stjepan Jurisic, Tommaso Guffi
{"title":"Non-bacterial thrombotic endocarditis leading to the diagnosis of pancreatic adenocarcinoma.","authors":"Aron Velco, Matthias Philip Nägele, Stjepan Jurisic, Tommaso Guffi","doi":"10.1136/bcr-2025-266289","DOIUrl":"https://doi.org/10.1136/bcr-2025-266289","url":null,"abstract":"<p><p>Non-bacterial thrombotic endocarditis (NBTE) is a rare, non-infective endocarditis affecting cardiac structures, often associated with underlying conditions and is frequently overlooked or misdiagnosed.We present the case of a man in his 50s who initially presented with symptoms concerning for myocardial ischaemia, and laboratory and ECG findings raised suspicion for a subacute non-ST-elevation myocardial infarction. Coronary angiography showed coronary sclerosis without significant stenoses and a dilated left ventricle with reduced systolic function. Transthoracic echocardiography revealed vegetations on a bicuspid aortic valve, while blood cultures were negative. Subsequent imaging identified a mass in the pancreatic head with liver metastases, confirmed as an adenocarcinoma by biopsy. The diagnosis of NBTE was established based on the presence of a malignancy, persistent negative blood cultures and the absence of laboratory signs of infection. Antibiotics were discontinued, and heparin therapy was initiated, emphasising NBTE as a paraneoplastic syndrome with a prothrombotic state without criteria for infectious endocarditis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590495","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
Indocyanine green fluorescence imaging in the identification of sentinel lymph node in melanoma. 吲哚菁绿荧光成像在黑色素瘤前哨淋巴结鉴别中的应用。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-08 DOI: 10.1136/bcr-2025-265050
William Murray, Nauar Knightly, Sharon Kennedy, Jack Kelly
{"title":"Indocyanine green fluorescence imaging in the identification of sentinel lymph node in melanoma.","authors":"William Murray, Nauar Knightly, Sharon Kennedy, Jack Kelly","doi":"10.1136/bcr-2025-265050","DOIUrl":"https://doi.org/10.1136/bcr-2025-265050","url":null,"abstract":"<p><p>Sentinel lymph node biopsy is imperative in the management of melanoma and allows for accurate histological assessment of nodal basins in stage 1B disease, or greater. Indocyanine green (ICG) represents a somewhat novel localisation modality that may confer a decreased risk of anaphylaxis and reduced risk of skin discolouration. A middle childhood (6-11 years) boy with a 3-month history of a new, pigmented, right cheek lesion was referred for evaluation. Excisional biopsy revealed a pigmented epithelioid melanocytoma.After the MDM discussion, a WLE and sentinel lymph node biopsy were recommended. The sentinel node was successfully identified using intraoperative ICG fluorescence imaging. There were no adverse outcomes such as skin staining or lack of dye uptake.Although initially positive for nodal micrometastases, management consisted of clinical follow-up with 3 monthly ultrasound scans of the neck. To date, there is no evidence of recurrence.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590492","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
Child admitted with a scrotal haematoma, discharged with coarctation of the aorta. 孩子因阴囊血肿入院，因主动脉缩窄出院。
IF 0.6
BMJ Case Reports Pub Date : 2025-07-08 DOI: 10.1136/bcr-2025-266936
Annette Venter, Michelle Dillon, Nikita Rodenbach
{"title":"Child admitted with a scrotal haematoma, discharged with coarctation of the aorta.","authors":"Annette Venter, Michelle Dillon, Nikita Rodenbach","doi":"10.1136/bcr-2025-266936","DOIUrl":"https://doi.org/10.1136/bcr-2025-266936","url":null,"abstract":"<p><p>A male child in middle childhood (6-11 years) was admitted to the paediatric ward under the care of the surgical team following a scrotal injury sustained during a football game 4 days earlier. His blood pressure (BP) was noted to be elevated during his admission, which triggered reviews and further investigations. It was initially felt that the pain, due to a scrotal haematoma, was the cause of his hypertension. However, the continued vigilance and persistence of the nursing staff led to a further opinion being sought. This led to the clinical suspicion and later confirmed diagnosis of coarctation of the aorta.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590491","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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