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Synchronous presentation of recurrent intracranial solitary fibrous tumour and chronic myeloid leukaemia: a diagnostic challenge. 复发性颅内单发纤维瘤和慢性髓性白血病的同步表现：诊断难题。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-02 DOI: 10.1136/bcr-2024-260434
Vikram Aggarwal, Khush Kharidia, Han Wool Kim, Eric Steen
{"title":"Synchronous presentation of recurrent intracranial solitary fibrous tumour and chronic myeloid leukaemia: a diagnostic challenge.","authors":"Vikram Aggarwal, Khush Kharidia, Han Wool Kim, Eric Steen","doi":"10.1136/bcr-2024-260434","DOIUrl":"https://doi.org/10.1136/bcr-2024-260434","url":null,"abstract":"<p><p>Solitary fibrous tumours (SFTs) and chronic myeloid leukaemia (CML) are both uncommon neoplasms with distinct chromosomal aberrations and clinical presentations. Here, we present a case of a male in his late 50s with a history of intracranial SFT who presented 8 years after subtotal resection and adjuvant radiotherapy with splenic infarcts, a white blood cell of 83 000 cells/mL, and liver masses. He was treated with dasatinib for CML and temozolomide/bevacizumab for SFT. This case emphasises the benefits of broad differential diagnoses that include multiple concurrent disease processes when confronted with unusual presentations. It highlights the need for interdisciplinary efforts and personalised approaches when managing patients with multiple primary malignancies.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364334","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
Untapped saga of paediatric nevo-blaschkoid seborrheic keratosis. 儿科新生儿脂溢性角化病的未解之谜。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-02 DOI: 10.1136/bcr-2024-261883
Shibhani Sudheer Hegde, Anil Patki, Vidyadhar R Sardesai
{"title":"Untapped saga of paediatric nevo-blaschkoid seborrheic keratosis.","authors":"Shibhani Sudheer Hegde, Anil Patki, Vidyadhar R Sardesai","doi":"10.1136/bcr-2024-261883","DOIUrl":"https://doi.org/10.1136/bcr-2024-261883","url":null,"abstract":"<p><p>Seborrheic keratosis (SK) has long been known to be an acquired benign tumour of adulthood. Nevo-blaschkoid pattern of SK presenting during infancy is rare and puts a clinician in a quandary regarding final diagnosis. This hypothesis of paediatric SK being a subtype of epidermal nevus (EN) has muddled the understanding of both disorders. There are histopathological pointers that differentiate seborrheic keratosis from SK-like histology of EN. Here, we present a child with blaschkoid SK with onset during infancy. Dermoscopic evaluation showed comedo-like openings suggestive of SK. The benefits of performing shave biopsy were twofold. Diagnostic confirmation of it being SK and not SK-type of EN and therapeutic option of their simultaneous removal ensured prompt management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364336","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
Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features. 新型亚甲基四氢叶酸还原酶（MTHFR）突变，表现为新生儿脑病、脱发和马凡诺特征。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-02 DOI: 10.1136/bcr-2024-261755
Vimesh Parmar, Arunkumarendu Singh, Rinkal Madhudiya
{"title":"Novel methylenetetrahydrofolate reductase (<i>MTHFR</i>) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features.","authors":"Vimesh Parmar, Arunkumarendu Singh, Rinkal Madhudiya","doi":"10.1136/bcr-2024-261755","DOIUrl":"10.1136/bcr-2024-261755","url":null,"abstract":"<p><p>We present a case of a male term neonate with lethargy, hypotonia, hypoventilation and severe encephalopathy. The infant had a history of two siblings who died in the neonatal period from unclear causes. The infant exhibited skin and hair abnormalities, including desquamation of the extremities, angular stomatitis, cheilitis, neonatal acne and thin, sparse hair. Additionally, the infant had a tall stature; long, slender fingers and toes; and facial dysmorphism characterised by a long, narrow face with increased interpalpebral distance. The condition deteriorated rapidly, and unfortunately, death occurred before a definitive diagnosis could be established. Tandem mass spectrometry suggested low methionine and clinical exome sequencing identified a nonsense mutation in the <i>MTHFR</i> gene.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364313","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
Near-fatal pheochromocytoma crisis after beta-blocker and tumour haemorrhage. β-受体阻滞剂和肿瘤出血后嗜铬细胞瘤危象，几近死亡。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-02 DOI: 10.1136/bcr-2024-260870
Divya Madhavarapu, Anthony Asta, Gizem Reyhanoglu, Antoni Kafrouni Gerges
{"title":"Near-fatal pheochromocytoma crisis after beta-blocker and tumour haemorrhage.","authors":"Divya Madhavarapu, Anthony Asta, Gizem Reyhanoglu, Antoni Kafrouni Gerges","doi":"10.1136/bcr-2024-260870","DOIUrl":"https://doi.org/10.1136/bcr-2024-260870","url":null,"abstract":"<p><p>Pheochromocytomas are rare neuroendocrine tumors characterised by the secretion of catecholamines and their metabolites. While some patients may be asymptomatic, they can also present with various symptoms including hypertensive crisis, headaches, palpitations, diaphoresis or other signs of catecholamine toxicity. Adrenal haemorrhage, though rare, is a potentially fatal complication that is often diagnosed during autopsy. In all patients with suspected pheochromocytoma, regardless of whether haemorrhagic conversion has occurred, prompt diagnosis is imperative. Early identification allows for the timely initiation of treatment, preventing potentially life-threatening complications. This case report details the haemorrhagic conversion of an undiagnosed pheochromocytoma in a female patient in her 30s.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364312","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
Brodie's abscess of the calcaneus due to Serratia marcescens. 大豆沙雷氏菌引起的小腿骨布罗迪脓肿。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-02 DOI: 10.1136/bcr-2024-260739
Nirmal Muthukumarasamy, Jacob Hodges, Poorani Sekar
{"title":"Brodie's abscess of the calcaneus due to <i>Serratia marcescens</i>.","authors":"Nirmal Muthukumarasamy, Jacob Hodges, Poorani Sekar","doi":"10.1136/bcr-2024-260739","DOIUrl":"https://doi.org/10.1136/bcr-2024-260739","url":null,"abstract":"<p><p>Brodie's abscess is a subacute or chronic osteomyelitis characterised by an intraosseous abscess. It may present months to years after the inciting event. <i>Staphylococcus aureus</i> is the most common causative organism of Brodie's abscess, while Gram-negative bacteria are uncommon causative organisms. A combination of culture-directed antibiotics and surgical debridement is key to successful management. This case report describes a patient with a history of minor trauma preceding the development of Brodie's abscess of the calcaneus caused by <i>Serratia marcescens</i> This was managed successfully with surgical debridement, followed by oral antibiotics.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364306","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
Panniculitis with fever of unknown origin. 伴有不明原因发热的泛发热。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-262467
Dhanushan Gnanendran, Thamir Alshamari, Arif Muhammad, Kirsten Mack
{"title":"Panniculitis with fever of unknown origin.","authors":"Dhanushan Gnanendran, Thamir Alshamari, Arif Muhammad, Kirsten Mack","doi":"10.1136/bcr-2024-262467","DOIUrl":"https://doi.org/10.1136/bcr-2024-262467","url":null,"abstract":"<p><p>We present a case of a girl in her early childhood with a background of chromosomal deletion 10q21.2, hypothyroidism, second-degree atrioventricular block, developmental delay, gastroesophageal reflux disease, constipation and recurrent fevers. She had subcutaneous nodules, which represented panniculitis. Diagnosis of fever of unknown origin (FUO) associated with panniculitis was very challenging despite the involvement of geneticist, dermatologist, rheumatologist and paediatrician. To detect possible malignant cases and start treatment plans promptly, the case emphasises the need for a comprehensive diagnostic examination, which includes an early biopsy of nodular lesions. To maximise patient outcomes in complicated paediatric presentations, it emphasises the need for continual multidisciplinary teamwork and close monitoring. This case adds to the body of knowledge on the treatment of panniculitis and FUO in paediatric patients, highlighting the need of a comprehensive approach to treatment.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364315","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
Rare presentation and unconventional treatment of Rosai-Dorfman disease. 罗赛-多夫曼病的罕见表现和非常规治疗。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-262184
Ekaterina Proskuriakova, Leonid Shunyakov, Marc S Hoffmann
{"title":"Rare presentation and unconventional treatment of Rosai-Dorfman disease.","authors":"Ekaterina Proskuriakova, Leonid Shunyakov, Marc S Hoffmann","doi":"10.1136/bcr-2024-262184","DOIUrl":"https://doi.org/10.1136/bcr-2024-262184","url":null,"abstract":"<p><p>Rosai-Dorfman disease (RDD) is a rare myeloproliferative disorder involving histiocytes, with an incidence of 1:200 000 and approximately 100 new cases diagnosed annually in the USA. The condition presents a diverse range of clinical manifestations, and early recognition and treatment generally result in a favourable prognosis. However, diagnosing RDD poses challenges due to its rarity. The clinical management of RDD lacks a consensus, further complicating its diagnostic and therapeutic approach. We present a case of a man in his late 50s with RDD who experienced worsening cytopenias, including severe neutropenia and respiratory distress, despite an initial positive response to steroids, rituximab and lenalidomide. Genetic testing revealed mutations in POLE, KRAS (G13C), NDE1 and EZH2, suggesting potential new therapeutic targets. Sirolimus was initiated and led to complete radiological remission of the disease. This case adds strength to the growing evidence supporting the efficacy of sirolimus in refractory RDD cases.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364317","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
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing. 通过超快速基因组测序诊断出与门克氏症有关的 ATP7A 新型可能致病变体。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-259792
Amy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis
{"title":"Novel, likely pathogenic variant in <i>ATP7A</i> associated with Menkes disease diagnosed with ultrarapid genome sequencing.","authors":"Amy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis","doi":"10.1136/bcr-2024-259792","DOIUrl":"https://doi.org/10.1136/bcr-2024-259792","url":null,"abstract":"<p><p>Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfunction and developmental regression after 2-3 months of age. The primary variant associated with Menkes is in the <i>ATP7A</i> gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat. Emerging technology for ultrarapid genome sequencing offers a DNA-based route of diagnosis with preliminary results in hours, allowing for earlier discovery and treatment of Menkes with the potential for better long-term outcomes. Ultrarapid whole genome sequencing identified a novel, likely pathogenic, frameshift variant in the <i>ATP7A</i> gene consistent with a diagnosis of Menkes disease. The clinical manifestations and pathophysiology of this disorder, as well as a rapid DNA-based diagnosis, are described in this case.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364314","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
Rare complications of complete hydatidiform molar pregnancy: the 'hook effect' and thyrotoxicosis. 完全性水螅状妊娠的罕见并发症："钩状效应 "和甲状腺毒症。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-259812
Amy Shearer, Srdjan Saso, Catriona Stalder, Benjamin Jones
{"title":"Rare complications of complete hydatidiform molar pregnancy: the 'hook effect' and thyrotoxicosis.","authors":"Amy Shearer, Srdjan Saso, Catriona Stalder, Benjamin Jones","doi":"10.1136/bcr-2024-259812","DOIUrl":"https://doi.org/10.1136/bcr-2024-259812","url":null,"abstract":"<p><p>A multiparous woman in her 40s presented with a positive pregnancy test, vaginal bleeding, abdominal distention and shortness of breath, 8 weeks after her last menstrual period. A serum human chorionic gonadotrophin (hCG) was reported 900 mIU/ml, and a transvaginal ultrasound (TVUS) diagnosed a pregnancy of unknown location. The patient deteriorated re-presenting 6 days later with features of thyrotoxicosis. TVUS demonstrated a 198×110×165-mm intrauterine mass with features of a complete hydatidiform mole (CHM), and a serum hCG was reported as 440 mIU/ml. Due to the discrepancy between hCG level and suspicion of CHM, the hCG was thought to be falsely low secondary to the 'hook effect'. Following appropriate dilution, the hCG was reported as 4 573 344 mIU/mL. She underwent an uncomplicated surgical evacuation of molar pregnancy and was discharged 3 days postoperatively with resolution of her symptoms and follow-up in a regional gestational trophoblastic disease centre.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364316","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
Development of Takotsubo cardiomyopathy following spontaneous coronary artery dissection in a patient with fibromuscular dysplasia. 一名纤维肌发育不良患者自发冠状动脉夹层后引发塔克次博心肌病。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-261602
Qiuyu Martin Zhu, Julie M Chen
{"title":"Development of Takotsubo cardiomyopathy following spontaneous coronary artery dissection in a patient with fibromuscular dysplasia.","authors":"Qiuyu Martin Zhu, Julie M Chen","doi":"10.1136/bcr-2024-261602","DOIUrl":"https://doi.org/10.1136/bcr-2024-261602","url":null,"abstract":"<p><p>New-onset Takotsubo cardiomyopathy following spontaneous coronary artery dissection (SCAD) is rare. We report a middle-aged woman without significant cardiovascular risk factors, who initially presented with non-ST-elevation myocardial infarction (NSTEMI) with angiography showing sudden 'pruning' of the coronary artery consistent with SCAD. One week later, the patient returned with recurrent NSTEMI. Repeat coronary angiogram showed no change in SCAD, but ventriculogram revealed new-onset apical ballooning beyond the SCAD-affected territory, consistent with Takotsubo cardiomyopathy. Further head-to-pelvis angiogram revealed an irregular beaded appearance of the left vertebral artery consistent with fibromuscular dysplasia. The patient was managed conservatively with aspirin, carvedilol and escitalopram with complete resolution of cardiac and mood symptoms. Our case supports an association between SCAD and Takotsubo cardiomyopathy in a potentially mutually aggravating process. Clinical vigilance is therefore required to rule out the other condition when one of the two entities is diagnosed.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364308","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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