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High maternal serum thyroid-stimulating hormone receptor antibodies with fetal and neonatal thyrotoxicosis after total thyroidectomy for Graves' disease. 格雷夫斯病全甲状腺切除术后孕妇血清促甲状腺激素受体抗体高伴胎儿和新生儿甲状腺毒症
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-264047
Johnbosco Emmanuel Mamah, Hannah Law, Sarah Prince, Charles Bodmer
{"title":"High maternal serum thyroid-stimulating hormone receptor antibodies with fetal and neonatal thyrotoxicosis after total thyroidectomy for Graves' disease.","authors":"Johnbosco Emmanuel Mamah, Hannah Law, Sarah Prince, Charles Bodmer","doi":"10.1136/bcr-2024-264047","DOIUrl":"https://doi.org/10.1136/bcr-2024-264047","url":null,"abstract":"<p><p>High thyroid-stimulating hormone receptor antibodies (TSHRAbs) during pregnancy pose clinical challenges, especially for women with a history of thyroidectomy or radioactive iodine therapy. We report a pregnant woman in her 30s with a history of Graves' disease, managed by total thyroidectomy and thyroid replacement therapy 10 years before presentation. Despite lacking a thyroid gland, she had elevated levels of TSHRAb early in her pregnancy. The fetus experienced early-onset intrauterine growth restriction; at 31 weeks gestation, demonstrated signs of thyrotoxicosis, including persistent abnormal fetal umbilical artery Doppler, fetal tachycardia and goitre observed during growth ultrasound scans. Initially, the patient was managed with antithyroid medications but required delivery at 34 weeks gestation due to deteriorating fetal health. This case illustrates that some pregnant women with previously treated Graves' disease may have persistently high levels of TSHRAb, which could cross the placenta to the fetus and result in fetal thyrotoxicosis requiring preterm delivery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156839","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
Clinical-electroretinography mismatch in a patient with non-syndromic BBS1-associated retinal degeneration. 非综合征性bbs1相关视网膜变性患者的临床-视网膜电图不匹配
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-264886
Mariana Ferreira Francisco, Miguel Raimundo, Ana Luísa Carvalho, João Pedro Marques
{"title":"Clinical-electroretinography mismatch in a patient with non-syndromic <i>BBS1</i>-associated retinal degeneration.","authors":"Mariana Ferreira Francisco, Miguel Raimundo, Ana Luísa Carvalho, João Pedro Marques","doi":"10.1136/bcr-2025-264886","DOIUrl":"https://doi.org/10.1136/bcr-2025-264886","url":null,"abstract":"<p><p>A male patient in his late thirties, homozygous for the M390R <i>Bardet-Biedl Syndrome-1 (BBS1</i>) variant, began follow-up in early adulthood, due to decreased visual acuity and photophobia. Fundus examination showed bilateral temporal wedge-shaped pallor of the optic disc and atrophic maculopathy, translating into central hypoautofluorescence on fundus autofluorescence. Even though clinical and multimodal imaging features suggested cone-dominant degeneration, electroretinography (ERG) showed reduced scotopic and photopic responses, with greater scotopic impairment. Despite a thorough systemic evaluation and long-term follow-up, no other features of BBS were found. To our knowledge, this is the first documented case of non-syndromic <i>BBS1</i>-associated disease with a rod-cone dystrophy phenotype on ERG and a clinical presentation (symptoms and imaging features) of cone-dominant disease. The discrepancy between clinical/imaging and ERG findings reflects the complexity of <i>BBS1</i>-related disease and highlights the crucial role of genetic testing and comprehensive phenotyping in inherited retinal disorders.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156756","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
Neuromelanosis masquerading as tubercular bacterial meningitis. 伪装成结核性细菌性脑膜炎的神经黑化病。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-265041
Vykuntaraju K Gowda, Aqila Babu Abdullah, Viveka Santhosh Reddy Challa, Amrit Kaur, Varunvenkat M Srinivasan
{"title":"Neuromelanosis masquerading as tubercular bacterial meningitis.","authors":"Vykuntaraju K Gowda, Aqila Babu Abdullah, Viveka Santhosh Reddy Challa, Amrit Kaur, Varunvenkat M Srinivasan","doi":"10.1136/bcr-2025-265041","DOIUrl":"https://doi.org/10.1136/bcr-2025-265041","url":null,"abstract":"<p><p>The coexistence of two diseases in a single child is rare, and one should be careful when diagnosing. Consideration of a second diagnosis becomes necessary, especially if it is treatable. Here, we present a toddler with paroxysmal events in the form of abnormal neck posturing, reduced vision, facial palsy and tremors involving all limbs following a febrile illness. On examination, the child had melanocytic naevi, altered consciousness, right lower facial nerve palsy, pyramidal signs, ataxia and dystonia. Neuroimaging showed communicating hydrocephalus and leptomeningeal enhancements, with cerebrospinal fluid (CSF) analysis showing lymphocyte-predominant leucocytosis; hence, the possibility of tuberculous meningitis was considered. The work-up for tuberculosis was unyielding. Anti-tubercular therapy (ATT) was started empirically. Repeat CSF analysis showed atypical pigmentary cells suggestive of melanocytes; hence, ATT was discontinued. In conclusion, the leptomeningeal enhancements and the hydrocephalus masqueraded as the picture of tuberculosis in neurocutaneous melanosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156812","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
Spontaneous lens absorption and empty capsular bag in hyper-mature senile cataract. 超成熟老年性白内障的自发晶状体吸收和空囊袋。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-262202
Vaishali Tomar, Pranita Sahay, Kamini Singh, Subhash Dadeya
{"title":"Spontaneous lens absorption and empty capsular bag in hyper-mature senile cataract.","authors":"Vaishali Tomar, Pranita Sahay, Kamini Singh, Subhash Dadeya","doi":"10.1136/bcr-2024-262202","DOIUrl":"https://doi.org/10.1136/bcr-2024-262202","url":null,"abstract":"<p><p>A male patient in his 60s presented with a rare form of hyper-mature senile cataract, characterised by an empty capsular bag in the left eye and diminished vision over 2 years. Initial visual acuity was 20/40 in the right eye and finger counting at one metre in the left eye. A slit lamp examination revealed pseudophakia in the right eye and a fibrosed lens capsule in the left eye. A dilated examination confirmed an empty capsular bag with a fibrosed capsule and normal fundus. Ultrasound findings were anechoic, and anterior segment optical coherence tomography showed an intact lens capsule. The patient underwent intraocular lens implantation (IOL) in the sulcus, resulting in improved visual acuity to 20/32. At the 6-month follow-up, the patient had a stable and well-centred IOL with best corrected visual acuity of 20/20.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156874","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
Surgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy. 传统、电灼和二极管激光牙龈切除术治疗遗传性牙龈纤维瘤病合并齐默曼-拉邦综合征。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-262622
Hira Ismail, Anjani Kumar Pathak, Mohd Aamir Khan, Ayan Saxena
{"title":"Surgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy.","authors":"Hira Ismail, Anjani Kumar Pathak, Mohd Aamir Khan, Ayan Saxena","doi":"10.1136/bcr-2024-262622","DOIUrl":"https://doi.org/10.1136/bcr-2024-262622","url":null,"abstract":"<p><p>Hereditary gingival fibromatosis (HGF) is a rare condition characterised by the abnormal growth of gingival tissue, leading to a thickened and fibrous appearance of the gingiva. It can show syndromic and non-syndromic associations. In this case report, the surgical management of HGF associated with the Zimmermann-Laband syndrome was successfully carried out using three different methods: conventional gingivectomy, electrocautery and diode laser gingivectomy. These techniques have proven to be effective in treating hereditary gingival fibromatosis, restoring normal gingival appearance and improving overall oral health.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156875","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
Sweet's syndrome as a presenting symptom of granulomatosis with polyangiitis. 甜综合征作为肉芽肿病伴多血管炎的主要症状。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-264722
Teresa Xiao, Ailia Ali, Kimberly Trotter
{"title":"Sweet's syndrome as a presenting symptom of granulomatosis with polyangiitis.","authors":"Teresa Xiao, Ailia Ali, Kimberly Trotter","doi":"10.1136/bcr-2024-264722","DOIUrl":"https://doi.org/10.1136/bcr-2024-264722","url":null,"abstract":"<p><p>A patient presented with fatigue, weight loss, haemoptysis, bullous rash and spiculated pulmonary nodules. Skin biopsy was consistent with Sweet's syndrome (SS). Pertinent labs included a positive c- anti-neutrophil cytoplasmic antibody (ANCA) and positive proteinase 3 (PR3) antibody. Additional work-up included a lung biopsy which revealed multinucleated giant cells and repeat skin biopsy with small and medium vasculitis, leading to a diagnosis of granulomatosis with polyangiitis (GPA). SS is a neutrophilic dermatosis that often presents with malignancy, drugs or infection. SS has rarely been described in association with ANCA-vasculitis, with few reports of SS as a presenting symptom. Patients presenting with SS and additional features concerning for ANCA-vasculitis may benefit from further workup for vasculitis given the high morbidity and mortality associated with the disease.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156876","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
Attritional rupture of the extensor pollicis longus tendon secondary to an osteochondroma of the distal radius. 桡骨远端骨软骨瘤继发的拇长伸肌腱磨损性断裂。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2024-263877
Carl O'Flanagan, Conor J Kilkenny, Catherine Bossut, John Francis Quinlan
{"title":"Attritional rupture of the extensor pollicis longus tendon secondary to an osteochondroma of the distal radius.","authors":"Carl O'Flanagan, Conor J Kilkenny, Catherine Bossut, John Francis Quinlan","doi":"10.1136/bcr-2024-263877","DOIUrl":"https://doi.org/10.1136/bcr-2024-263877","url":null,"abstract":"<p><p>The extensor pollicis longus (EPL) tendon, given its complex anatomical course, is at a higher risk of rupture when compared with other extensor tendons of the hand. This is most often seen in the trauma setting, and up to 60% of cases are related to an underlying distal radius fracture. Spontaneous atraumatic ruptures are uncommon and often attributable to prolonged steroid use and tenosynovitis.Attritional ruptures from osseous lesions of the distal radius are not well described, and we are unaware of any cases related specifically to distal radius osteochondroma. This may be due to the rare nature of osteochondroma in this region and the fact that many cases are asymptomatic in the absence of complications. This case illustrates spontaneous EPL rupture secondary to an osteochondroma of Lister's tubercle and highlights that excision and tendon transfer can safely be completed in the same operative setting.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156727","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
Primary neurolymphomatosis presenting as paraparesis and diplopia in a young man. 原发性神经淋巴瘤，表现为斜视和复视。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-265566
Shiny Joy, Rohit Bhatia, Shariq Ahmad Shah, Mamta Bhushan Singh, Shailesh B Gaikwad, Vaishali Suri, Raghav Singla, Sameer Bakhshi
{"title":"Primary neurolymphomatosis presenting as paraparesis and diplopia in a young man.","authors":"Shiny Joy, Rohit Bhatia, Shariq Ahmad Shah, Mamta Bhushan Singh, Shailesh B Gaikwad, Vaishali Suri, Raghav Singla, Sameer Bakhshi","doi":"10.1136/bcr-2025-265566","DOIUrl":"https://doi.org/10.1136/bcr-2025-265566","url":null,"abstract":"<p><p>A man in his mid-20s presented with a 5-month history of bilateral lower limb weakness and wasting along with bladder symptoms and erectile dysfunction. Additionally, he had binocular diplopia and progressive drooping of both eyelids. His clinical presentation was suggestive of bilateral third cranial nerve involvement with lumbosacral polyradiculopathy. Initial treatment with steroids for suspected idiopathic lumbosacral polyradiculopathy syndrome proved ineffective, as his symptoms progressively worsened without other systemic manifestations. We diagnosed a rare and treatable neurological condition, primary neurolymphomatosis, presenting as lumbosacral polyradiculopathy with bilateral third cranial nerve involvement. A definitive diagnosis was established only after nerve root biopsy, highlighting the crucial role of biopsy in confirming the diagnosis. Our case underscores the importance of early consideration for an invasive nerve root biopsy, enabling prompt treatment and an improved prognosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156864","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
Familial giant cell arteritis. 家族性巨细胞动脉炎。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-26 DOI: 10.1136/bcr-2025-265982
Yi Ling Dai, Ali Khodor, Raul Ruiz-Lozano, Susan Tucker
{"title":"Familial giant cell arteritis.","authors":"Yi Ling Dai, Ali Khodor, Raul Ruiz-Lozano, Susan Tucker","doi":"10.1136/bcr-2025-265982","DOIUrl":"https://doi.org/10.1136/bcr-2025-265982","url":null,"abstract":"<p><p>The genetic basis of giant cell arteritis is not fully understood but may play a role in treatment resistance and increased risk of ischaemic complications, including permanent vision loss. We present two of five cases of familial giant cell arteritis (2.5%) among 198 temporal artery biopsy-positive patients seen at a single institution over a 20-year period between 2003 and 2023 to highlight the importance of further genetic studies in this group of patients to improve timely diagnosis, management and detection of patients at greatest risk for ischaemic sequelae.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156780","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
Unusual presentation of heparin-induced thrombocytopenia and thrombosis (HITT) with multiple organ involvement. 肝素诱导的血小板减少和血栓形成（HITT）的不同寻常的表现与多器官受累。
IF 0.6
BMJ Case Reports Pub Date : 2025-05-22 DOI: 10.1136/bcr-2024-264427
Helen Zakhour, Sam Pearson, Muhammad Mohsin
{"title":"Unusual presentation of heparin-induced thrombocytopenia and thrombosis (HITT) with multiple organ involvement.","authors":"Helen Zakhour, Sam Pearson, Muhammad Mohsin","doi":"10.1136/bcr-2024-264427","DOIUrl":"https://doi.org/10.1136/bcr-2024-264427","url":null,"abstract":"<p><p>In this case, a woman in her 60s was diagnosed with heparin-induced thrombocytopenia (HIT) following the use of prophylactic enoxaparin postoperatively. Subsequently, she developed bilateral pulmonary emboli (PE), hepatic vein thrombosis and bilateral adrenal infarcts. On initiating warfarin therapy, she developed right leg deep vein thrombosis (DVT). She was successfully bridged onto warfarin with an argatroban infusion and has not developed any further thrombosis since being discharged on warfarin single-agent treatment. Her care required a multidisciplinary approach involving input from specialist haematologists at the local tertiary centre as well as endocrinologists, gastroenterologists, respiratory physicians and orthogeriatricians. This report serves as a key reminder of the many complications of HIT. Additionally, it reminds us to consider the paradoxical procoagulant state seen in early warfarinisation and the potential consequences of this.</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":"144132053","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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