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POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy. 妊娠期 POLG 癫痫表现为新发难治性癫痫状态 (NORSE)。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004232
Viva Levee, Karthikeyan Sivaganesh, Andrew Schaeffer, Kushan Karunaratne
{"title":"POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy.","authors":"Viva Levee, Karthikeyan Sivaganesh, Andrew Schaeffer, Kushan Karunaratne","doi":"10.1136/pn-2024-004232","DOIUrl":"10.1136/pn-2024-004232","url":null,"abstract":"<p><p>A 21-year-old woman developed explosive new-onset refractory status epilepticus when 18 weeks pregnant. She had been previously well with no history of seizures and a normal developmental history. She had initially presented with focal impaired awareness seizures but subsequently developed status epilepticus requiring intensive care unit admission and was successfully treated with multiple anti-seizure medications. Once stabilised she was stepped down to the inpatient neurology ward and then transferred to the tertiary centre for a planned late termination of pregnancy, which was the patient's choice. Following transfer, she again developed refractory status epilepticus, requiring intensive care readmission. Subsequent investigations identified a compound heterozygous POLG genetic mutation. We discuss the challenges in the acute clinical situation and important considerations in the diagnosis and management of POLG-related epilepsy.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"56-59"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113094","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
What is rehabilitation? 什么是康复？
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004384
Siobhan M Leary, Valerie L Stevenson
{"title":"What is rehabilitation?","authors":"Siobhan M Leary, Valerie L Stevenson","doi":"10.1136/pn-2024-004384","DOIUrl":"10.1136/pn-2024-004384","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"4-5"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630174","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
Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum. 中枢神经系统血管病：遗传还是获得性？DADA2难题。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-08 DOI: 10.1136/pn-2024-004441
Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan
{"title":"Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum.","authors":"Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan","doi":"10.1136/pn-2024-004441","DOIUrl":"https://doi.org/10.1136/pn-2024-004441","url":null,"abstract":"<p><p>Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956446","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
Pontocerebellar inflammation and pancytopenia. 桥小脑炎症和全血细胞减少症。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-07 DOI: 10.1136/pn-2024-004405
Alex Dudley, Derville O'Shea, Noel Fanning, Niamh Bermingham, Brian Sweeney, Simon Cronin
{"title":"Pontocerebellar inflammation and pancytopenia.","authors":"Alex Dudley, Derville O'Shea, Noel Fanning, Niamh Bermingham, Brian Sweeney, Simon Cronin","doi":"10.1136/pn-2024-004405","DOIUrl":"https://doi.org/10.1136/pn-2024-004405","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956450","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
Extensive spinal epidural CSF collection following lumbar puncture. 腰椎穿刺后广泛收集脊髓硬膜外脑脊液。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-07 DOI: 10.1136/pn-2024-004413
Arun Rajaratnam, Nimasha Ekanayaka, Chandana Peiris, Bimsara Senanayake
{"title":"Extensive spinal epidural CSF collection following lumbar puncture.","authors":"Arun Rajaratnam, Nimasha Ekanayaka, Chandana Peiris, Bimsara Senanayake","doi":"10.1136/pn-2024-004413","DOIUrl":"https://doi.org/10.1136/pn-2024-004413","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956448","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
Mediterranean spotted fever presenting with rash and meningism. 地中海斑疹热，表现为皮疹和脑膜炎。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-03 DOI: 10.1136/pn-2024-004438
José Manuel Alcalá Ramírez Del Puerto, Maddalena Elena Urbano, Pablo Abizanda Saro, Adela María Maruri Pérez, Vicente Gajate García
{"title":"Mediterranean spotted fever presenting with rash and meningism.","authors":"José Manuel Alcalá Ramírez Del Puerto, Maddalena Elena Urbano, Pablo Abizanda Saro, Adela María Maruri Pérez, Vicente Gajate García","doi":"10.1136/pn-2024-004438","DOIUrl":"https://doi.org/10.1136/pn-2024-004438","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927606","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
Infratentorial superficial siderosis due to a spinal dural tear. 由硬脊膜撕裂引起的幕下浅表性铁沉着症。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-02 DOI: 10.1136/pn-2024-004382
Sarah Katherine Morgan, Kuhilan Gounder, Constantine Phatouros, Tom Jenkins
{"title":"Infratentorial superficial siderosis due to a spinal dural tear.","authors":"Sarah Katherine Morgan, Kuhilan Gounder, Constantine Phatouros, Tom Jenkins","doi":"10.1136/pn-2024-004382","DOIUrl":"https://doi.org/10.1136/pn-2024-004382","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923596","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
Unilateral posterior reversible encephalopathy syndrome after an ipsilateral carotid endarterectomy. 同侧颈动脉内膜切除术后单侧后部可逆性脑病综合征。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-12-31 DOI: 10.1136/pn-2024-004448
Ali Al-Salahat, Seyed Amir Ebrahimzadeh, Mittal Prajapati
{"title":"Unilateral posterior reversible encephalopathy syndrome after an ipsilateral carotid endarterectomy.","authors":"Ali Al-Salahat, Seyed Amir Ebrahimzadeh, Mittal Prajapati","doi":"10.1136/pn-2024-004448","DOIUrl":"https://doi.org/10.1136/pn-2024-004448","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910899","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
Bilateral femoral neck fractures and fixation failure due to stiff-person syndrome. 僵硬人综合征导致双侧股骨颈骨折及固定失败。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-12-25 DOI: 10.1136/pn-2024-004391
Daniel Whittam, Anthony Helm, Harry Tucker
{"title":"Bilateral femoral neck fractures and fixation failure due to stiff-person syndrome.","authors":"Daniel Whittam, Anthony Helm, Harry Tucker","doi":"10.1136/pn-2024-004391","DOIUrl":"10.1136/pn-2024-004391","url":null,"abstract":"<p><p>We describe a woman with stiff-person syndrome (SPS), whose muscle spasms resulted in sequential bilateral femoral neck fractures. Orthopaedic fixation of the first fracture was complicated by increased muscle spasm, fracture nonunion and ultimately metalwork fracture. SPS was diagnosed following the fracture of the contralateral femoral neck, neurology assessment and detection of high-titre antibodies to glutamic acid decarboxylase. Multidisciplinary management with high-dose benzodiazepines, intravenous immunoglobulin infusions, and bilateral total hip replacements achieved a good functional outcome. Spasms associated with SPS are a rare cause of pathological fractures and may cause orthopaedic fixation to fail. Early recognition and multidisciplinary care are essential to prevent additional morbidity.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898958","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
Cavernous sinus thrombosis: then and now. 海绵窦血栓形成：过去和现在。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-12-22 DOI: 10.1136/pn-2024-004396
Christopher Y Itoh, Eelco F M Wijdicks
{"title":"Cavernous sinus thrombosis: then and now.","authors":"Christopher Y Itoh, Eelco F M Wijdicks","doi":"10.1136/pn-2024-004396","DOIUrl":"10.1136/pn-2024-004396","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883174","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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