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Solitary plasmacytoma: an unusual presentation. 孤立性浆细胞瘤：一种不寻常的表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-263812
Fidel Rampersad, Jason Diljohn, Nicolette Cassim, Narina Thompson
{"title":"Solitary plasmacytoma: an unusual presentation.","authors":"Fidel Rampersad, Jason Diljohn, Nicolette Cassim, Narina Thompson","doi":"10.1136/bcr-2024-263812","DOIUrl":"https://doi.org/10.1136/bcr-2024-263812","url":null,"abstract":"<p><p>This case highlights the importance of thoroughly investigating incidental findings, particularly in patients with unexplained symptoms. Solitary plasmacytoma, though rare and accounting for 4-5% of plasma cell dyscrasias, can occur outside the spine and may present without systemic symptoms. Early diagnosis through imaging and biopsy is crucial for appropriate management, as these lesions can be effectively treated if identified early.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999922","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
Petroclival meningioma regression after combined oestrogen and nomegestrol acetate interruption. 雌激素和醋酸异孕酮联合中断后岩斜坡脑膜瘤消退。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-263529
Julie Lebeau, Louis Deprez, Axelle Pintiaux, Gilles Reuter
{"title":"Petroclival meningioma regression after combined oestrogen and nomegestrol acetate interruption.","authors":"Julie Lebeau, Louis Deprez, Axelle Pintiaux, Gilles Reuter","doi":"10.1136/bcr-2024-263529","DOIUrl":"10.1136/bcr-2024-263529","url":null,"abstract":"<p><p>Meningioma regression after progestin treatment interruption is already established. Zoely is a combined oral contraceptive including oestradiol and progestin (nomegestrol acetate). The effect of combined oestrogen with nomegestrol acetate on meningioma is currently unknown. We report the case of a woman in her early 50s under Zoely for 5 years who was diagnosed with a large petroclival meningioma. After cessation of Zoely, the patient showed clinical improvement and shrinkage of the tumour volume from 27.22 cm<sup>3</sup> to 20.54 cm<sup>3</sup> in 6 months. This is probably the first report of spontaneous meningioma regression after Zoely interruption.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999906","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
Perhexiline-induced toxicity in a geriatric patient presenting with peripheral neuropathy, hepatotoxicity and recurrent falls. 老年患者表现为周围神经病变、肝毒性和复发性跌倒。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-263851
Nicholas Joseph Waters, Nadia Mouchaileh, Tessa Low, Celia Ting
{"title":"Perhexiline-induced toxicity in a geriatric patient presenting with peripheral neuropathy, hepatotoxicity and recurrent falls.","authors":"Nicholas Joseph Waters, Nadia Mouchaileh, Tessa Low, Celia Ting","doi":"10.1136/bcr-2024-263851","DOIUrl":"https://doi.org/10.1136/bcr-2024-263851","url":null,"abstract":"<p><p>Perhexiline is an antianginal medication used in refractory disease. Despite being highly efficacious, it is seldom prescribed due to its risk of neurotoxicity and hepatotoxicity. These adverse effects are often linked to high plasma concentration in patients with impaired metabolism, identified through therapeutic drug monitoring. In this report, a man in his 70s developed hepatotoxicity, lower limb weakness, poor coordination and reduced mobility following 6 months of perhexiline use, leading to recurrent falls and multiple hospitalisations. Extensive testing ruled out other causes of the patient's symptomatology. During his third hospital presentation, elevated serum perhexiline levels confirmed toxicity. Cessation of perhexiline led to a marked improvement in liver function, mobility and function, allowing for the patient to be discharged home. This case underscores the critical role of therapeutic drug monitoring and the need to consider adverse drug reactions in vulnerable older patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999904","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
Enterocolitis with rectal and ileal stenosis: a rare presentation of metastatic urothelial carcinoma. 小肠结肠炎伴直肠和回肠狭窄：转移性尿路上皮癌的罕见表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-261930
Nicholas Smith, Jennifer Borowsky, Andrew Taylor
{"title":"Enterocolitis with rectal and ileal stenosis: a rare presentation of metastatic urothelial carcinoma.","authors":"Nicholas Smith, Jennifer Borowsky, Andrew Taylor","doi":"10.1136/bcr-2024-261930","DOIUrl":"https://doi.org/10.1136/bcr-2024-261930","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999891","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
Tuberous sclerosis complex: one disorder, three generations and an assortment of radiological and clinical presentations. 结节性硬化症：一种疾病，三代和各种放射学和临床表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-261774
Komal Verma Saluja, Priyanka Sangar, Drishya Pillai, Chetan Prakash Suman
{"title":"Tuberous sclerosis complex: one disorder, three generations and an assortment of radiological and clinical presentations.","authors":"Komal Verma Saluja, Priyanka Sangar, Drishya Pillai, Chetan Prakash Suman","doi":"10.1136/bcr-2024-261774","DOIUrl":"https://doi.org/10.1136/bcr-2024-261774","url":null,"abstract":"<p><p>This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules. Genetic testing confirmed the diagnosis of tuberous sclerosis complex, identifying a mutation in the <i>TSC2</i> gene.The entire family was evaluated for inherited disorders, leading to the detection of tuberous sclerosis in three adult offspring and a grandchild. The uncharacteristic neurological and cardiac manifestations in the proband are noteworthy. Another important aspect is the missed diagnosis in patients despite obvious clinical features and interaction with healthcare facilities, reflecting a gap in disease awareness and a lack of clinical vigilance.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999692","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
Myelin oligodendrocyte glycoprotein antibody-associated disease/paediatric multiple sclerosis overlap: a diagnostic conundrum. 髓鞘少突胶质细胞糖蛋白抗体相关疾病/小儿多发性硬化症重叠：诊断难题
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-263624
Taro Higuchi, Itaru Hayakawa, Hiroshi Sakuma, Yuichi Abe
{"title":"Myelin oligodendrocyte glycoprotein antibody-associated disease/paediatric multiple sclerosis overlap: a diagnostic conundrum.","authors":"Taro Higuchi, Itaru Hayakawa, Hiroshi Sakuma, Yuichi Abe","doi":"10.1136/bcr-2024-263624","DOIUrl":"https://doi.org/10.1136/bcr-2024-263624","url":null,"abstract":"<p><p>While advancements in the classification of acquired demyelinating syndromes have significantly benefited children with this condition, some cases present with overlapping features, posing diagnostic challenges. We describe an Asian girl of early childhood age with acute visual loss. Examination revealed right optic neuritis, left optic nerve atrophy and demyelinating lesions in the juxtacortical brain parenchyma. Anti-myelin oligodendrocyte glycoprotein antibody was elevated, while oligoclonal bands and anti-aquaporin 4 antibody were negative. The patient met the 2023 International Diagnostic Criteria for Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) and, concurrently, potentially fulfilled the 2013 International Pediatric Multiple Sclerosis Study Group criteria for paediatric multiple sclerosis (MS). The primary diagnosis was MOGAD, with paediatric MS considered as a possibility. Corticosteroid treatment improved vision, with no recurrence over 6 months without disease-modifying therapy. Both optic fundi showed atrophy 3 months after the acute phase, but the visual acuity was normal in both eyes, further raising the possibility of MOGAD over paediatric MS. This case highlights the diagnostic complexities in paediatric acute demyelinating syndromes, demonstrating potential overlap between MOGAD and MS diagnoses in children.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999902","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
'PHACE' on the 'face'. ‘face’上的‘face’。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-263878
Ie Lien Romero, Chia Saw, Noel David Friesen
{"title":"'PHACE' on the 'face'.","authors":"Ie Lien Romero, Chia Saw, Noel David Friesen","doi":"10.1136/bcr-2024-263878","DOIUrl":"https://doi.org/10.1136/bcr-2024-263878","url":null,"abstract":"<p><p>Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma. Diagnosing and managing PHACE syndrome is a complex task, as it requires a multidisciplinary approach, awareness of the clinical presentation and access to standardised guidelines to approach large facial haemangiomas. We will discuss the clinical assessment and diagnostic approach to PHACE syndrome in a metropolitan paediatric outpatient setting in Western Australia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999907","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
Giant sigmoid diverticulum. 巨大乙状结肠憩室。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2023-258689
Elaine Ong Ming San, Mafas Ali, Michael Bramwell Sprakes, Nicholas Ewin Burr
{"title":"Giant sigmoid diverticulum.","authors":"Elaine Ong Ming San, Mafas Ali, Michael Bramwell Sprakes, Nicholas Ewin Burr","doi":"10.1136/bcr-2023-258689","DOIUrl":"https://doi.org/10.1136/bcr-2023-258689","url":null,"abstract":"<p><p>Giant colonic diverticulum is an uncommon presentation of colonic diverticular disease. It is characterised by the presence of a diverticulum exceeding 4 cm in size, with approximately 90% of the cases involving the sigmoid colon. Typically, diagnosis relies on CT of the abdomen and pelvis (CTAP). The preferred treatment approach is sigmoid resection with a primary colonic anastomosis. However, in complicated or emergency cases, proctosigmoidectomy with end colostomy (Hartmann's procedure) is often considered the safest surgical option.We present an atypical case of a symptomatic patient with a giant sigmoid diverticulum that had increased in size and symptoms over several years. Initial diagnosis by CTAP revealed an incidental 6 cm sigmoid diverticulum. Over approximately 6 years, the diverticulum enlarged substantially, reaching 20 cm in size. This caused compression of the stomach and splinting of the left hemidiaphragm, resulting in nutritional failure. He was admitted with a plan to optimise for curative surgery; however complications such as nutritional failure and frailty developed, leading to a decision for palliative care.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999892","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
Seroma under the amniotic membrane following simple limbal epithelial transplantation. 单纯角膜缘上皮移植后羊膜下的血肿。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2024-261530
Rishabh Sah, Nikunj Patel, Virender Singh Sangwan
{"title":"Seroma under the amniotic membrane following simple limbal epithelial transplantation.","authors":"Rishabh Sah, Nikunj Patel, Virender Singh Sangwan","doi":"10.1136/bcr-2024-261530","DOIUrl":"https://doi.org/10.1136/bcr-2024-261530","url":null,"abstract":"<p><p>A woman in her 50s underwent simple limbal epithelial transplantation (SLET) in the left eye for chemical injury with total limbal stem cell deficiency. A seroma, a hitherto unreported complication of the procedure was noted on the 10th postoperative day. It was associated with an accumulation of inflammatory cells and exudates in the inferior part of the amniotic membrane resembling a hypopyon. After careful exclusion of infectious keratitis on clinical examination, the bandage contact lens was removed and the seroma was drained with a 26G hypodermic needle. A small seroma reappeared over the central cornea 2 weeks later but no donor limbal tissue was seen to be detached from the corneal surface. The patient was managed conservatively. By the third postoperative month, the amniotic membrane disintegrated and the patient achieved an epithelised corneal surface with the relative clearing of the corneal stroma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999920","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
Stroke thrombolysis in tuberculous meningitis. 结核性脑膜炎的脑卒中溶栓。
IF 0.6
BMJ Case Reports Pub Date : 2025-01-19 DOI: 10.1136/bcr-2023-259376
Pik Ee Chan, Anamika Saha, Tim Saunders, Gabriel Sc Yiin
{"title":"Stroke thrombolysis in tuberculous meningitis.","authors":"Pik Ee Chan, Anamika Saha, Tim Saunders, Gabriel Sc Yiin","doi":"10.1136/bcr-2023-259376","DOIUrl":"https://doi.org/10.1136/bcr-2023-259376","url":null,"abstract":"<p><p>A woman in her 30s presented with sudden onset right-sided weakness, speech difficulties and transient loss of consciousness. She had a medical history of migraine, hypothyroidism and cervical lymphadenopathy. On examination, her National Institutes of Health Stroke Scale (NIHSS) score was 8 due to dense right-sided hemiparesis. CT brain imaging showed no intracranial haemorrhage but revealed incidental findings of left supraclavicular and cervical lymphadenopathy. CT intracranial angiogram did not show large vessel occlusion. She received thrombolytic treatment for ischaemic stroke. NIHSS improved to 3 with no immediate complications. Following admission, she developed swinging fever, seizures and fluctuating right-sided weakness. Repeat MRI of the head showed leptomeningeal enhancement. Biopsy of the cervical lymph nodes showed histiocytic granulomatous lymphadenitis, which was suggestive of tuberculous meningitis (TBM). She was treated with quadruple antimicrobial therapy and steroids for TBM, as well as aspirin for ischaemic stroke, which resulted in good clinical improvement.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999923","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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