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HER2-positive salivary duct carcinoma: durable response to targeted therapy and chemotherapy. her2阳性涎腺管癌：对靶向治疗和化疗的持久反应。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2025-269218
Gavin Keogh, Cliona Grant, Bijal Shah, Colm Mac Eochagain
{"title":"HER2-positive salivary duct carcinoma: durable response to targeted therapy and chemotherapy.","authors":"Gavin Keogh, Cliona Grant, Bijal Shah, Colm Mac Eochagain","doi":"10.1136/bcr-2025-269218","DOIUrl":"https://doi.org/10.1136/bcr-2025-269218","url":null,"abstract":"<p><p>Salivary duct carcinoma (SDC) of the parotid gland is a rare and aggressive malignancy. Conventional treatment for recurrent or metastatic disease commonly involves platinum-based chemotherapy and taxane-based regimens although treatment is increasingly informed by molecular profiling. A subset of these tumours are human epidermal growth factor receptor 2 (HER2) positive and are associated with more aggressive metastatic behaviour. Novel treatment approaches, particularly dual HER2-targeted therapies commonly used in breast cancer, are now being explored for clinical utility in this group.This case report describes a patient with recurrent metastatic SDC arising from a carcinoma ex-pleomorphic adenoma, with strong HER2 positivity. The patient was treated with a combination of monoclonal antibodies (trastuzumab and pertuzumab) and chemotherapy agents (carboplatin and paclitaxel). The patient demonstrated an excellent and sustained clinical response. This case supports the potential benefit of targeted anti-HER2 therapy in HER2-positive salivary gland tumours and suggests this strategy may be considered in future treatment protocols.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811912","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
Urinary incontinence revealing Mayer-Rokitansky-Küster-Hauser syndrome in an early adolescent. 青少年早期尿失禁表现为mayer - rokitansky - k<s:1> ster- hauser综合征。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2025-267615
Keta Vagha, Vadlamudi Nagendra, Akhita Jain, Sarika Gaikwad, Nayakawadi Akhil
{"title":"Urinary incontinence revealing Mayer-Rokitansky-Küster-Hauser syndrome in an early adolescent.","authors":"Keta Vagha, Vadlamudi Nagendra, Akhita Jain, Sarika Gaikwad, Nayakawadi Akhil","doi":"10.1136/bcr-2025-267615","DOIUrl":"10.1136/bcr-2025-267615","url":null,"abstract":"<p><p>Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital condition marked by absence of the uterus and upper two-thirds of the vagina in females with a 46, XX karyotype. Type II MRKH includes renal, skeletal and occasionally cardiac or auditory anomalies. An early adolescent girl presented with lifelong dribbling of urine and recurrent urinary tract infection. She had normal external genitalia, was at Tanner Stage II and showed mild thoracic scoliosis. Abdominal ultrasonography demonstrated a horseshoe kidney with bilateral ectopic ureters, uterine agenesis and absence of the upper two-thirds of the vagina. These findings were confirmed on CT and MRI. Karyotyping was 46, XX; hearing and cardiac evaluations were normal. A multidisciplinary team advised ureteric reimplantation and planned vaginoplasty. This case illustrates an early atypical presentation of MRKH Type II. In girls with complex urinary anomalies, especially renal defects, MRKH should be considered-even before puberty.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811947","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
Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features. 不典型的Wolcott-Rallison综合征合并严重的Epstein-Barr病毒性肝炎，继发性过氧化物酶体功能障碍和新的神经影像学特征。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2025-269660
Mossaab Hassoun, Ahmad Malas, Jinane Khaled, Mohamad Hassoun
{"title":"Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features.","authors":"Mossaab Hassoun, Ahmad Malas, Jinane Khaled, Mohamad Hassoun","doi":"10.1136/bcr-2025-269660","DOIUrl":"10.1136/bcr-2025-269660","url":null,"abstract":"<p><p>A female toddler born to consanguineous parents presented with severe Epstein-Barr virus hepatitis, hyperferritinaemia and severe neutropenia, initially suggesting haemophagocytic lymphohistiocytosis. Metabolic screening revealed elevated very-long-chain fatty acids and dicarboxylic aciduria, mimicking a peroxisomal disorder. Brain MRI demonstrated cortical thickening and smoothing that were more pronounced in both temporal lobes, with poorly formed gyri characteristic of pachygyria-lissencephaly, underlying subcortical white matter thinning affecting the temporo-insular parenchyma and moderate cerebellar hypoplasia. Exome sequencing identified a homozygous pathogenic <i>EIF2AK3</i> mutation (c.3193C>T, p.Arg1065*), confirming Wolcott-Rallison syndrome. This case expands the Wolcott-Rallison syndrome phenotype: neonatal diabetes and skeletal dysplasia were absent at presentation, and the neuroimaging demonstrated previously unreported patterns. It highlights that severe viral infections can create misleading biochemical patterns in patients with endoplasmic reticulum stress-pathway defects, emphasising the importance of comprehensive genetic testing.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811773","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
Laparoscopic-assisted percutaneous nephrolithotomy for nephrolithiasis in a pancake kidney. 腹腔镜下经皮肾镜取石术治疗煎饼肾肾结石。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2026-275986
Hanny C Japhina, Amit Mishra, Anuj Sarswat, Shuvam Roy
{"title":"Laparoscopic-assisted percutaneous nephrolithotomy for nephrolithiasis in a pancake kidney.","authors":"Hanny C Japhina, Amit Mishra, Anuj Sarswat, Shuvam Roy","doi":"10.1136/bcr-2026-275986","DOIUrl":"https://doi.org/10.1136/bcr-2026-275986","url":null,"abstract":"<p><p>Pancake kidney is an extremely rare renal fusion anomaly characterised by a single discoid parenchymal mass situated within the pelvic cavity. Due to its anomalous rotation and location, it is highly susceptible to urinary stasis, resulting in nephrolithiasis and infections. This report describes the clinical course and management of a man in his 20s who presented with chronic episodic lower abdominal pain and intermittent gross haematuria. Diagnostic imaging revealed a 2.5×2.2 cm obstructive calculus in the renal pelvis of a pancake kidney, causing significant hydronephrosis. Due to the unusual location in the abdominal pelvis, which predisposes to a high risk of bowel injury, the patient underwent a successful laparoscopic-assisted percutaneous nephrolithotomy. This approach allowed for safe bowel mobilisation and direct visualisation during renal access, resulting in a stone-free status without postoperative complications. The case highlights the necessity of tailored surgical strategies when addressing nephrolithiasis in the context of rare anatomical anomalies, emphasising the role of combined minimally invasive techniques in optimising patient outcomes and minimising surgical morbidity.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811942","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
Cerebrovascular injury following manual strangulation and subsequent cervical manipulation: challenges in attribution and imaging decisions. 手勒死和随后的颈椎手法后的脑血管损伤：归因和影像学决定的挑战。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2026-275291
Patrick John Reese, Ryan Michael Magee, Peter R Nelson, Leslie S Staubus
{"title":"Cerebrovascular injury following manual strangulation and subsequent cervical manipulation: challenges in attribution and imaging decisions.","authors":"Patrick John Reese, Ryan Michael Magee, Peter R Nelson, Leslie S Staubus","doi":"10.1136/bcr-2026-275291","DOIUrl":"10.1136/bcr-2026-275291","url":null,"abstract":"<p><p>Cervical artery dissection (CAD) causes approximately 2% of ischaemic strokes overall but up to 25% in adults younger than 50 years. Isolated head or neck pain without infarction occurs in 8%-12% of cases and may contribute to delayed diagnosis. CAD has been described following manual strangulation and chiropractic manipulation. A woman in her 30s who presented with persistent headache following repeated intimate partner violence-related strangulation was initially discharged after a negative head CT. After subsequent chiropractic cervical manipulation, CT angiography demonstrated distal intradural vertebral artery dissection with bilateral cervical internal carotid artery aneurysms. Because vascular imaging was not obtained before chiropractic manipulation, the temporal relationship between strangulation, manipulation and CAD cannot be established. This illustrates the challenge of attributing cerebrovascular injury in patients exposed to multiple insults and supports careful clinical assessment and a lower threshold for vascular imaging in selected patients with persistent symptoms following strangulation-related trauma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811939","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
Extrathoracic thymoma at the level III neck level. 胸外胸腺瘤位于III级颈部。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2026-274981
Hugo Smith, Hitesh Mathew, David T Walker, Silvana Di Palma
{"title":"Extrathoracic thymoma at the level III neck level.","authors":"Hugo Smith, Hitesh Mathew, David T Walker, Silvana Di Palma","doi":"10.1136/bcr-2026-274981","DOIUrl":"10.1136/bcr-2026-274981","url":null,"abstract":"<p><p>A male patient in his 60s was investigated for a suspicious mass in the level 3 neck space. His initial core biopsy was reported elsewhere as metastatic squamous cell carcinoma. Histological review as part of the multidisciplinary team (MDT) discussion policy at a local head and neck cancer centre was re-assessed as an unusual tumour of possible thymic origin and he underwent neck dissection which confirmed an extrathoracic thymoma. Correct identification of tissue origin by the histopathology team ensured the correct treatment course was recommended and avoided the burden of postoperative radiotherapy and adjuvant chemotherapy which currently lacks evidence.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811952","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
Verapamil-sensitive fascicular ventricular tachycardia precipitated by promethazine overdose. 异丙嗪过量引起维拉帕米敏感性束状室性心动过速。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2025-271685
Salma Hassan, Alexander Carpenter, Ashley Nisbet
{"title":"Verapamil-sensitive fascicular ventricular tachycardia precipitated by promethazine overdose.","authors":"Salma Hassan, Alexander Carpenter, Ashley Nisbet","doi":"10.1136/bcr-2025-271685","DOIUrl":"https://doi.org/10.1136/bcr-2025-271685","url":null,"abstract":"<p><p>Verapamil-sensitive fascicular tachycardia is a type of ventricular tachycardia (VT) involving the specialised cardiac conducting tissue. Drug overdose is an important cause to consider when assessing patients with a new presentation of a broad complex tachycardia. Multiple antihistamines have been implicated as pro-arrhythmic, but these tend to precipitate Torsades de Pointes via drug-induced QT prolongation. We present an educational case of a Verapamil-sensitive fascicular VT with typical electrocardiogram (ECG) characteristics, which developed immediately following an overdose of promethazine and which was terminated successfully with verapamil, in a young person with a structurally normal heart. There have been no previous published reports of promethazine precipitating a fascicular VT and we aim to highlight this unusual link and the benefits of early recognition and management of similar presentations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811915","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
Facial nerve schwannoma of the accessory parotid gland region in a child managed through a transoral approach. 儿童副腮腺区面神经鞘瘤经口入路治疗。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2025-269972
Natalia Tsotsiou, Athina Peponoula, Isidora Papitsi, Valentinos Sofokleous
{"title":"Facial nerve schwannoma of the accessory parotid gland region in a child managed through a transoral approach.","authors":"Natalia Tsotsiou, Athina Peponoula, Isidora Papitsi, Valentinos Sofokleous","doi":"10.1136/bcr-2025-269972","DOIUrl":"10.1136/bcr-2025-269972","url":null,"abstract":"<p><p>Facial nerve schwannomas arising in the accessory parotid gland region are extremely rare, and paediatric cases have not been reported previously. We present the case of a girl in middle childhood who developed a painless, gradually enlarging mass in the mid-cheek area. Radiologic evaluation revealed a well-defined lesion with imaging features suggestive of a benign neoplasm. A transoral surgical approach was chosen to avoid cutaneous scarring and minimise surgical morbidity. Complete excision was achieved without injury to the facial nerve or Stensen's duct, and histopathology revealed a benign schwannoma. The postoperative course was uneventful, and no evidence of recurrence was observed during a 3-year follow-up, with the preservation of optimal aesthetic appearance and function. This case highlights the importance of including schwannomas in the differential diagnosis of mid-cheek masses in paediatric patients and supports the transoral approach as a safe and effective alternative to external approaches, even in this age group.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811910","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
Considerations in the management of a paediatric patient with recurrent periorbital cellulitis. 小儿复发性眼眶周围蜂窝织炎的处理要点。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2025-270592
Shazia Nusky, Polly Swann, Michael Hopkins, Annzela D'Costa, Rohit Gohil
{"title":"Considerations in the management of a paediatric patient with recurrent periorbital cellulitis.","authors":"Shazia Nusky, Polly Swann, Michael Hopkins, Annzela D'Costa, Rohit Gohil","doi":"10.1136/bcr-2025-270592","DOIUrl":"https://doi.org/10.1136/bcr-2025-270592","url":null,"abstract":"<p><p>Periorbital cellulitis with subperiosteal orbital abscess (SPOA) is a common presentation to paediatric ear, nose and throat services. Recurrent cases are rare but pose significant therapeutic challenges.We present the case of a boy in early childhood with recurrent left periorbital cellulitis and SPOA formation, which required three surgical procedures. The third procedure was performed endoscopically due to the abscess being sited posteriorly towards the orbital apex. Following this, he recovered well with no residual deficiencies to his vision. This impact was sustained over a 12-month period.This case highlights the importance of a full assessment along the lamina papyracea to minimise risk of recurrence. A defect in the lamina can provide a direct route of spread for pus and scarring around the anterior orbit from previous surgery can limit tissue compliance, resulting in an increased risk of visual compromise. In these cases, early operative intervention should be considered.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811864","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
Late-onset atypical acute zonal occult outer retinopathy following COVID-19 infection. COVID-19感染后迟发性非典型急性带状隐匿性外视网膜病变。
IF 0.4
BMJ Case Reports Pub Date : 2026-08-24 DOI: 10.1136/bcr-2026-272504
Worapot Srimanan, Sunita Sawangsribanterng
{"title":"Late-onset atypical acute zonal occult outer retinopathy following COVID-19 infection.","authors":"Worapot Srimanan, Sunita Sawangsribanterng","doi":"10.1136/bcr-2026-272504","DOIUrl":"10.1136/bcr-2026-272504","url":null,"abstract":"<p><p>Acute zonal occult outer retinopathy (AZOOR) is a rare outer retinal disorder that typically affects young myopic women and presents with acute visual field defects and photopsia. We report an atypical case of late-onset AZOOR in a late 50s man who presented with chronic, painless blurred vision with symptom onset temporally associated with prior COVID-19 infection. The patient was initially misdiagnosed with glaucoma due to elevated intraocular pressure and visual field abnormalities. Multimodal retinal imaging revealed a characteristic hyperautofluorescent ring on fundus autofluorescence and zonal ellipsoid zone loss on optical coherence tomography, with corresponding enlargement of the blind spot on automated perimetry. Visual acuity and colour vision were preserved, and no relative afferent pupillary defect was present. The visual field remained stable during follow-up. This case highlights the expanded clinical spectrum of AZOOR, underscores the importance of multimodal imaging in distinguishing AZOOR from glaucomatous optic neuropathy and raises awareness of possible post-infectious associations in atypical presentations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 8","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148811918","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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