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Tumour-induced osteomalacia due to a rare intrathoracic phosphaturic mesenchymal tumour. 罕见胸腔内磷质间质肿瘤引起的肿瘤性骨软化症。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2024-263622
Lauren Ka-Po Law, John O'Connell, Andrew Lee, Sharon Ong
{"title":"Tumour-induced osteomalacia due to a rare intrathoracic phosphaturic mesenchymal tumour.","authors":"Lauren Ka-Po Law, John O'Connell, Andrew Lee, Sharon Ong","doi":"10.1136/bcr-2024-263622","DOIUrl":"https://doi.org/10.1136/bcr-2024-263622","url":null,"abstract":"<p><p>Phosphaturic mesenchymal tumours (PMTs) are rare neoplasms that secrete fibroblast growth factor 23 (FGF23), a hormone that disrupts phosphate homeostasis and induces tumour-induced osteomalacia (TIO). This condition causes hypophosphataemia, bone pain, fractures and musculoskeletal weakness. Due to the non-specific nature of these symptoms, TIO is often misdiagnosed with treatment delays. Surgical resection of PMTs is curative with rapid normalisation of serum phosphorus and full symptom resolution. PMTs are often located in the extremities and axial skeleton but can also occur in less common areas such as the intrathoracic region. We report a case of an intrathoracic PMT in a young woman who suffered for over 2 years without a diagnosis. The PMT was identified on CT, MRI and fluorodeoxyglucose-positron emission tomography and confirmed by histopathology. The tumour was excised via combined video-assisted thoracoscopic surgery and posterior thoracic resection. Within 6 months, the patient experienced complete symptom resolution and normalised serum levels.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132036","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
Urethral fibroid: clinical insights and analysis. 尿道肌瘤：临床观察与分析。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2024-264079
Anum Malik, Novera Chughtai, Urooj Kashif, Imran Khan Jalbani
{"title":"Urethral fibroid: clinical insights and analysis.","authors":"Anum Malik, Novera Chughtai, Urooj Kashif, Imran Khan Jalbani","doi":"10.1136/bcr-2024-264079","DOIUrl":"https://doi.org/10.1136/bcr-2024-264079","url":null,"abstract":"<p><p>Urethral leiomyomas are rare, benign tumours arising from smooth muscle tissue, typically affecting women of reproductive age and thought to be oestrogen-dependent. We present a case of a young nulliparous woman who reported severe dysuria and lower urinary tract symptoms. On examination, a polypoidal mass was observed at the urethral meatus. Surgical excision of the mass was performed, and histopathology confirmed the diagnosis of urethral leiomyoma. The patient had an uneventful recovery, with complete resolution of symptoms and no recurrence at 1 year follow-up. Although uncommon, urethral leiomyomas should be considered in the differential diagnosis of urethral masses and managed surgically for optimal outcomes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132044","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
Angioid streaks and optic disc drusen in a patient with congenital dyserythropoietic anaemia. 先天性促红细胞增生性贫血患者的血管样条纹和视盘结节。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2025-265294
Yuanzhang Jiao, Huib Buyck, Jesse Gale
{"title":"Angioid streaks and optic disc drusen in a patient with congenital dyserythropoietic anaemia.","authors":"Yuanzhang Jiao, Huib Buyck, Jesse Gale","doi":"10.1136/bcr-2025-265294","DOIUrl":"https://doi.org/10.1136/bcr-2025-265294","url":null,"abstract":"<p><p>A man in his 60s with dry eye symptoms was noted to have angioid streaks under the peripapillary retina. Congenital dyserythropoietic anaemia was the major health issue throughout his life, requiring venesection for iron overload, but no transfusions for many years. Close inspection of the eyes with optical coherence tomography also detected small subclinical optic disc drusen, which have not been reported in association with congenital dyserythropoietic anaemia. Together, optic disc drusen and angioid streaks represent an ectopic calcification phenotype in the eye and can be seen in the more common inherited condition of pseudoxanthoma elasticum or other inherited haemolytic anaemias such as sickle cell or thalassaemia. These associations highlight the role of pyrophosphate as a physiological inhibitor of calcification, and deficiencies of serum pyrophosphate lead to excessive and ectopic calcification. This raises intriguing hypotheses for the treatment of optic disc drusen, angioid streaks and other conditions of ectopic calcification.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131981","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
Infectious facade of autoimmunity: when SLE masquerades as tuberculosis. 自身免疫的感染表象：SLE伪装成肺结核。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2025-266622
Debashis Priyadarshan Sahoo, Bhupen Barman, Md Jamil, Gwenette Andrea War, Annu Gupta, Ashwini Chikkannaswamy
{"title":"Infectious facade of autoimmunity: when SLE masquerades as tuberculosis.","authors":"Debashis Priyadarshan Sahoo, Bhupen Barman, Md Jamil, Gwenette Andrea War, Annu Gupta, Ashwini Chikkannaswamy","doi":"10.1136/bcr-2025-266622","DOIUrl":"https://doi.org/10.1136/bcr-2025-266622","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder characterised by widespread inflammation affecting multiple organ systems. Its varied clinical manifestations often complicate diagnosis, as it can closely mimic other conditions, particularly infectious diseases such as tuberculosis. This case report describes a woman in her early 20s initially suspected of having disseminated tuberculosis and treated accordingly due to overlapping symptoms, including fever, night sweats, lymphadenopathy and bilateral exudative pleural effusion. Subsequent evaluation, however, confirmed a diagnosis of SLE based on clinical criteria and positive autoantibody results. The patient also presented with anaemia of chronic disease and elevated inflammatory markers. This case highlights the diagnostic difficulty of differentiating SLE from tuberculosis, particularly in regions with high tuberculosis prevalence. Comprehensive physical examination, thorough evaluation and consideration of autoimmune disorders are essential in such cases to ensure accurate diagnosis, guide appropriate treatment and prevent severe complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131989","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
Infrapubic Foley catheter balloon tamponade for retropubic venous haemorrhage during radical cystoprostatectomy and urethrectomy. 耻骨下Foley导管球囊填塞治疗根治性膀胱前列腺切除术和尿道切除术中耻骨后静脉出血。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2025-265030
Benjamin Ngie Xiong Wong, Michael Francis, Hanna John El-Khoury, Dixon Woon
{"title":"Infrapubic Foley catheter balloon tamponade for retropubic venous haemorrhage during radical cystoprostatectomy and urethrectomy.","authors":"Benjamin Ngie Xiong Wong, Michael Francis, Hanna John El-Khoury, Dixon Woon","doi":"10.1136/bcr-2025-265030","DOIUrl":"https://doi.org/10.1136/bcr-2025-265030","url":null,"abstract":"<p><p>Radical cystoprostatectomy with pelvic lymph node dissection, urethrectomy and ileal conduit formation is a complex surgical procedure with significant morbidity. One of the important aspects of this procedure is obtaining control of the dorsal venous complex (DVC) and achieving haemostasis. A male patient in his 70s with high-grade urothelial carcinoma had moderate bleeding from the DVC during this procedure. Conventional methods failed to control the bleeding, prompting an additional infrapubic incision for better access. A Foley catheter was inserted into the retropubic space and balloon inflated to achieve haemostasis, allowing completion of the procedure and closure. Postoperatively, the Foley catheter remained on traction for 2 days and was removed on day 5 after surgery. This case report highlights the novel use of an infrapubic urinary catheter balloon tamponade for management of persistent retropubic bleeding during this procedure and underscores the need for further studies to evaluate its safety and effectiveness in managing intraoperative bleeding.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131991","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
Pituitary apoplexy in the setting of severe headache and unconsciousness. 在严重头痛和意识不清的情况下垂体性中风。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2024-263585
Maahi Qureshi, Karunakaran Pradeep Thozhuthumparambil
{"title":"Pituitary apoplexy in the setting of severe headache and unconsciousness.","authors":"Maahi Qureshi, Karunakaran Pradeep Thozhuthumparambil","doi":"10.1136/bcr-2024-263585","DOIUrl":"https://doi.org/10.1136/bcr-2024-263585","url":null,"abstract":"<p><p>Pituitary apoplexy is a rare but life-threatening condition caused by acute ischaemia or haemorrhage within the pituitary gland, often occurring in pre-existing adenomas. We present a case of an unconscious patient with acute headache, initially managed empirically for suspected meningitis. Investigations, such as cerebrospinal fluid analysis, revealed initially xanthochromia, prompting evaluation for subarachnoid haemorrhage. Magnetic resonance imaging and pituitary function testing identified a pituitary macroadenoma with optic chiasm compression and hypopituitarism, leading to successful transsphenoidal resection.This case underscores the importance of including pituitary apoplexy in the differential diagnosis of unconsciousness and severe headache, as it can mimic meningitis or subarachnoid haemorrhage (SAH). While SAH may precipitate apoplexy, xanthochromia can also arise independently from pituitary haemorrhage. Given the risk of rapid clinical deterioration from adrenal insufficiency, clinicians should consider pituitary apoplexy early in the evaluation to facilitate prompt management while also evaluating for other significant differential diagnoses.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132029","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
Subretinal tissue plasminogen activator in polypoidal choroidal vasculopathy-related submacular haemorrhage and exudative retinal detachment. 视网膜下组织纤溶酶原激活剂在息肉样脉络膜血管病相关黄斑下出血和渗出性视网膜脱离中的作用。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2025-265059
Mannat Giran, Rana Almoparzy, Srikanta Kumar Padhy
{"title":"Subretinal tissue plasminogen activator in polypoidal choroidal vasculopathy-related submacular haemorrhage and exudative retinal detachment.","authors":"Mannat Giran, Rana Almoparzy, Srikanta Kumar Padhy","doi":"10.1136/bcr-2025-265059","DOIUrl":"https://doi.org/10.1136/bcr-2025-265059","url":null,"abstract":"<p><p>This report highlights the successful management of a large submacular haemorrhage associated with idiopathic polypoidal choroidal vasculopathy in a woman in her late 50s who presented with sudden vision loss in her left eye. Multilayered haemorrhages involving the macula were confirmed through funduscopy and swept-source optical coherence tomography. The patient underwent pars plana vitrectomy with subretinal recombinant tissue plasminogen activator injection, fluid-gas exchange with sulphur hexafluoride, and intravitreal ranibizumab, followed by prone positioning postoperatively. At 1 week, significant resolution of subretinal haemorrhage and improvement in exudative retinal detachment were observed. By 3 months, best-corrected visual acuity improved to 20/60, with consolidation of the haemorrhage and shrinkage of the pigment epithelial detachment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132032","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
Iatrogenic pneumothorax in a term neonate. 足月新生儿的医源性气胸。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2024-264308
Abdulrahman Abufanas, Rehana Parveen, Maryam Amirrad
{"title":"Iatrogenic pneumothorax in a term neonate.","authors":"Abdulrahman Abufanas, Rehana Parveen, Maryam Amirrad","doi":"10.1136/bcr-2024-264308","DOIUrl":"https://doi.org/10.1136/bcr-2024-264308","url":null,"abstract":"<p><p>This case report discusses the neonatal management of a term baby born with normal parameters but developed respiratory distress shortly after birth. Initially, the baby presented with blue extremities, respiratory distress and grunting. He was placed on a nasal cannula, 6 L, 25% FiO<sub>2</sub> Subsequently, the baby was transferred to the neonatal intensive care unit, where examination revealed intercostal retractions and tachypnoea. After an hour, the baby was attached to nasal continuous positive airway pressure with 5 cm pressure, which increased to 6 cm with 40% oxygen. Despite initial improvement, the baby deteriorated the next day with unequal air entry and a positive transillumination test indicating pneumothorax. Needle thoracocentesis successfully managed the pneumothorax without the need for chest tube insertion.The main lesson from this case is the importance of prompt recognition and intervention for neonatal pneumothorax, highlighting the need for vigilant monitoring in infants with respiratory distress.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131986","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
Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis. 假造远端肾小管酸中毒的双胞胎的粘多糖病IVA型（Morquio A）。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2024-264555
Parth Jethwani, Shinjan Patra, Minal Pande, Ketki Kedar
{"title":"Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.","authors":"Parth Jethwani, Shinjan Patra, Minal Pande, Ketki Kedar","doi":"10.1136/bcr-2024-264555","DOIUrl":"https://doi.org/10.1136/bcr-2024-264555","url":null,"abstract":"<p><p>A twin child in early childhood presented with growth failure and multiple skeletal deformities involving both axial and appendicular skeleton. They did not have any upper limb deformity, fractures, dental anomalies, mental retardation, facial coarsening or organomegaly. The initial differentials were rickets, spondylo-epiphyseal dysplasia, related dysplastic diseases and renal tubular acidosis (RTA). Biochemical evaluations revealed mild normal anion gap metabolic acidosis with a positive urinary anion gap and prompted us to diagnose RTA based on those. However, their detailed skeletal imaging evaluations suggested dysostosis multiplex. With the suspicion of mucopolysaccharidosis (MPS) type IV, leucocyte N-acetylgalactosamine-6-sulfate sulfatase (<i>GALNS</i>) enzyme evaluation was done along with whole exome sequencing, confirming our diagnosis. The integrating clinical history, physical examination, radiology and genetic confirmation underscores the complexity of diagnosing rare disorders like MPS IVA and highlights the need for a systematic and multidisciplinary approach.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132013","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
A woman with erythematous rash over flexures and face: tofacitinib-induced symmetrical drug-related intertriginous and flexural exanthema. 女性屈曲和面部红斑皮疹：托法替尼引起的对称药物相关性三叉间和屈曲疹。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2025-265572
Avik Mondal, Peeyush Kiran Tripathy, Aparna Palit
{"title":"A woman with erythematous rash over flexures and face: tofacitinib-induced symmetrical drug-related intertriginous and flexural exanthema.","authors":"Avik Mondal, Peeyush Kiran Tripathy, Aparna Palit","doi":"10.1136/bcr-2025-265572","DOIUrl":"https://doi.org/10.1136/bcr-2025-265572","url":null,"abstract":"<p><p>Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE) is a rare drug-induced cutaneous adverse event due to antibiotics, antifungals or antiepileptics. Tofacitinib, a JAK inhibitor, is administered for various dermatological and rheumatological diseases. Here, we report a rare cutaneous adverse event (SDRIFE) in a young female resulting from tofacitinib taken for her juvenile idiopathic arthritis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131977","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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