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Pulmonary alveolar proteinosis with bradycardia and hypoxaemia. 肺泡蛋白沉积症伴心动过缓和低氧血症。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-21 DOI: 10.1136/bcr-2025-266782
Sumita Agrawal, Sanjay Nathani
{"title":"Pulmonary alveolar proteinosis with bradycardia and hypoxaemia.","authors":"Sumita Agrawal, Sanjay Nathani","doi":"10.1136/bcr-2025-266782","DOIUrl":"https://doi.org/10.1136/bcr-2025-266782","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124349","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
Acute appendicitis complicated by a rare double appendix: a rare anatomical anomaly. 急性阑尾炎合并罕见的双阑尾：罕见的解剖异常。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-21 DOI: 10.1136/bcr-2025-265850
Mohammad Kasim, Byung Choi, Dixa Thakrar, Tyler Longbone, Sreelakshmi Mallappa
{"title":"Acute appendicitis complicated by a rare double appendix: a rare anatomical anomaly.","authors":"Mohammad Kasim, Byung Choi, Dixa Thakrar, Tyler Longbone, Sreelakshmi Mallappa","doi":"10.1136/bcr-2025-265850","DOIUrl":"10.1136/bcr-2025-265850","url":null,"abstract":"<p><p>Acute appendicitis is one of the most common emergency general surgery presentations. However, a duplicate appendix is very rare, in an incidence of 0.004%-0.009% and is challenging to diagnose. It is often diagnosed intraoperatively during laparoscopy or more commonly in laparotomy. A duplicate appendix causing appendicitis can lead to a more complicated presentation, such as perforation. We present a case of a man in his late 70s, who presented with complicated acute appendicitis due to the presence of a double appendix. Both appendices were inflamed, with one having perforated with the presence of a faecolith, leading to an abscess cavity in the right iliac fossa. This case adds to the body of literature on duplicate appendix and emphasises the importance of identifying this anatomical anomaly.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124214","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 peripheral neuropathy in a young adult: the role of comprehensive genetic testing. 孤立的周围神经病变在一个年轻人：综合基因检测的作用。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-18 DOI: 10.1136/bcr-2025-264880
Deepa Avadhani, Rithvik Ramesh, Lakshmi Narasimhan Ranganathan, Nandeesh B N, Philo Hazeena, Sundar S
{"title":"Isolated peripheral neuropathy in a young adult: the role of comprehensive genetic testing.","authors":"Deepa Avadhani, Rithvik Ramesh, Lakshmi Narasimhan Ranganathan, Nandeesh B N, Philo Hazeena, Sundar S","doi":"10.1136/bcr-2025-264880","DOIUrl":"10.1136/bcr-2025-264880","url":null,"abstract":"<p><p>Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder with an autosomal recessive mode of inheritance. It is caused by mutations of the <i>DARS2</i> gene that encodes aspartyl-transfer RNA (tRNA) synthetase enzymes responsible for the accurate charging of aspartate-specific tRNA with aspartate. Clinical features include seizures, cognitive impairment, cerebellar signs, upper motor neuron type of weakness, peripheral neuropathy, muscle weakness, cramps and deformities. Exclusive involvement of the peripheral nervous system has not been reported so far. We describe a case in which the patient presented with peripheral neuropathy mimicking hereditary motor and sensory neuropathy type 1, and genetic analysis revealed a <i>DARS2</i> mutation. This case highlights the potential phenotypic variability that can be associated with a <i>DARS2</i> mutation and the importance of comprehensive genetic testing in unexplained neuropathies, while acknowledging the limitations, as it is a variant of uncertain significance. More research is necessary to establish definite causation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091202","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
Bilateral Straatsma syndrome with bilateral ovarian dermoid: a rare systemic correlation. 双侧Straatsma综合征伴双侧卵巢皮样：一种罕见的全身相关性。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-18 DOI: 10.1136/bcr-2025-267136
Mehak Gupta, Arshi Singh, Kirti Singh
{"title":"Bilateral Straatsma syndrome with bilateral ovarian dermoid: a rare systemic correlation.","authors":"Mehak Gupta, Arshi Singh, Kirti Singh","doi":"10.1136/bcr-2025-267136","DOIUrl":"https://doi.org/10.1136/bcr-2025-267136","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091169","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 Epstein-Barr virus-associated rhabdomyolysis complicated by acute compartment syndrome treated with decompressive fasciotomy. 用减压筋膜切开术治疗小儿爱泼斯坦-巴尔病毒相关横纹肌溶解合并急性筋膜室综合征。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-18 DOI: 10.1136/bcr-2025-266658
Masamichi Koike, Masatoshi Oba, Koji Tanoue, Satomi Mori
{"title":"Paediatric Epstein-Barr virus-associated rhabdomyolysis complicated by acute compartment syndrome treated with decompressive fasciotomy.","authors":"Masamichi Koike, Masatoshi Oba, Koji Tanoue, Satomi Mori","doi":"10.1136/bcr-2025-266658","DOIUrl":"10.1136/bcr-2025-266658","url":null,"abstract":"<p><p>Epstein-Barr virus (EBV) is a common virus that causes paediatric rhabdomyolysis. Acute compartment syndrome is a rare complication of rhabdomyolysis that can lead to severe consequences. We report the case of a previously healthy boy in early childhood with EBV-associated rhabdomyolysis complicated by acute compartment syndrome that required decompressive fasciotomy. The patient recovered without loss of strength, sensation or range of motion. This case report aims to focus attention on serious complications such as acute compartment syndrome that can occur with common viruses.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091198","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
Advanced pancreatic neuroendocrine tumour: the success of 'neoadjuvant' chemotherapy. 晚期胰腺神经内分泌肿瘤：新辅助化疗的成功。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-18 DOI: 10.1136/bcr-2024-263346
Maria Salomé Serranito, Leandro Augusto Silva, Andreia Martins Fernandes, Ana Rita Elvas, Isabel Domingues, Rui Martins, Raquel Martins
{"title":"Advanced pancreatic neuroendocrine tumour: the success of 'neoadjuvant' chemotherapy.","authors":"Maria Salomé Serranito, Leandro Augusto Silva, Andreia Martins Fernandes, Ana Rita Elvas, Isabel Domingues, Rui Martins, Raquel Martins","doi":"10.1136/bcr-2024-263346","DOIUrl":"10.1136/bcr-2024-263346","url":null,"abstract":"<p><p>Non-functioning pancreatic neuroendocrine tumours (pNETs) are frequently diagnosed at advanced stages, thus limiting the feasibility of curative surgery. The potential utility of different therapeutic modalities with neoadjuvant proposals aimed at facilitating curative surgery has been discussed in the literature and international guidelines. Nevertheless, clinical trials are warranted to analyse the role and efficacy of various treatment protocols in this context. The heterogeneity inherent in different pNETs should be acknowledged, as it may influence treatment response. We report a case of an unresectable pNET with metastatic disease, which exhibited a partial response to neoadjuvant chemotherapy, enabling an R0 resection.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091174","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
Neuroimaging features of familial MT-TK related mitochondrial disease in a child. 儿童家族性MT-TK相关线粒体疾病的神经影像学特征
IF 0.6
BMJ Case Reports Pub Date : 2025-09-18 DOI: 10.1136/bcr-2025-265230
Leia Salongo, Ben Nguyen, John Ross Crawford
{"title":"Neuroimaging features of familial MT-TK related mitochondrial disease in a child.","authors":"Leia Salongo, Ben Nguyen, John Ross Crawford","doi":"10.1136/bcr-2025-265230","DOIUrl":"https://doi.org/10.1136/bcr-2025-265230","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091177","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
Tocilizumab and electrolyte imbalance: severe hypokalaemia leading to paralysis. 托珠单抗与电解质失衡：严重低钾血症导致瘫痪。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-17 DOI: 10.1136/bcr-2025-266110
İrada İbramkhalilova, Fatih Demir, Zeynel Abidin Sayiner, Bunyamin Kisacik
{"title":"Tocilizumab and electrolyte imbalance: severe hypokalaemia leading to paralysis.","authors":"İrada İbramkhalilova, Fatih Demir, Zeynel Abidin Sayiner, Bunyamin Kisacik","doi":"10.1136/bcr-2025-266110","DOIUrl":"https://doi.org/10.1136/bcr-2025-266110","url":null,"abstract":"<p><p>Tocilizumab, an interleukin-6 (IL-6) receptor antagonist, is widely used for inflammatory diseases such as rheumatoid arthritis and adult-onset Still's disease (AOSD). While its known side effects include hypersensitivity, neutropenia and liver dysfunction, hypokalaemia is a rare adverse effect. We report a male patient in his early 30s with AOSD who developed severe hypokalaemia (2.0 mmol/L) and acute flaccid paralysis after his third intravenous tocilizumab infusion. He had no prior neurological or electrolyte disturbances. Electrocardiography showed U waves and mild QT prolongation, while brain and spinal MRI ruled out other causes. Potassium replacement led to full recovery within 24 hours, and his treatment was switched to adalimumab. This case suggests that IL-6 inhibition may disrupt potassium homeostasis, leading to hypokalaemia. Hypokalaemia should be kept in mind in cases of sudden onset of paralysis under tocilizumab treatment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085099","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
Abnormal kinematics of the distal radioulnar joint due to flat bone dysplasia in nail-patella syndrome: a 3D evaluation with dynamic radiostereometry. 趾骨-髌骨综合征扁平骨发育不良导致远端尺桡关节运动异常：动态放射立体测量的三维评估。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-17 DOI: 10.1136/bcr-2025-266971
Marie Mølmer, Janni Kjærgaard Thillemann, Emil Toft Petersen, Maiken Stilling
{"title":"Abnormal kinematics of the distal radioulnar joint due to flat bone dysplasia in nail-patella syndrome: a 3D evaluation with dynamic radiostereometry.","authors":"Marie Mølmer, Janni Kjærgaard Thillemann, Emil Toft Petersen, Maiken Stilling","doi":"10.1136/bcr-2025-266971","DOIUrl":"https://doi.org/10.1136/bcr-2025-266971","url":null,"abstract":"<p><p>Nail-patella syndrome is a genetic disease with different phenotypes often affecting nails and knees. We present a woman with nail-patella syndrome with instability and dysfunction of the distal radioulnar joint. This is a trait which, to our knowledge, has not previously been described in nail-patella syndrome. In the clinical examination, the ulna head subluxed from the distal radioulnar joint when the wrist was fully supinated, creating a dorsal visible indentation and a volar protrusion of the ulnar head. The distal radioulnar joint instability of the case patient was quantified with a 3D visualisation and kinematic evaluation using dynamic radiostereometry analysis during a forearm rotation test and a press test. The investigation revealed limited pronation and hyper-supination during the forearm rotation compared with a healthy control. The dynamic radiostereometry analysis enabled a better understanding of the pathomechanics behind the instability. Patient-specific CT-derived bone models of ulna and radius revealed flat end dysplastic joint surfaces. The dynamic radiostereometry analysis proved to be a useful tool to describe, visualise and understand the pathomechanics of the case patient's distal radioulnar joint.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085111","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
Varied phenotypic presentation of congenital bile acid synthesis defect type 2 in a set of first-degree relatives with the same genetic mutation. 一组具有相同基因突变的一级亲属中先天性胆囊酸合成缺陷2型的不同表型表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-17 DOI: 10.1136/bcr-2025-266785
Joanne Thio, Arun Ajmera, Jie Ouyang, Stefany Hernández Benabe
{"title":"Varied phenotypic presentation of congenital bile acid synthesis defect type 2 in a set of first-degree relatives with the same genetic mutation.","authors":"Joanne Thio, Arun Ajmera, Jie Ouyang, Stefany Hernández Benabe","doi":"10.1136/bcr-2025-266785","DOIUrl":"https://doi.org/10.1136/bcr-2025-266785","url":null,"abstract":"<p><p>Bile acid synthesis disorders represent a rare subset of cholestatic conditions that, if unrecognised, may progress to end-stage liver disease requiring transplantation. These disorders result from deficiencies in one of the 17 enzymes involved in the conversion of cholesterol into primary bile acids. We present a case series of three first-degree relatives diagnosed with congenital bile acid synthesis defect type 2 (AKR1D1 deficiency), a disorder characterised by impaired steroid 5β-reductase activity. After initiating cholic acid, all patients demonstrated significant clinical improvement.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085124","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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