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Binasal visual field defects in genetic acute necrotising encephalopathy. 遗传性急性坏死性脑病的双眼视野缺损。
IF 2.3
PRACTICAL NEUROLOGY Pub Date : 2025-07-31 DOI: 10.1136/pn-2025-004700
Jihad Al Kharbooshi, Michael Mayich, Adrian Budhram, Juan Racosta
{"title":"Binasal visual field defects in genetic acute necrotising encephalopathy.","authors":"Jihad Al Kharbooshi, Michael Mayich, Adrian Budhram, Juan Racosta","doi":"10.1136/pn-2025-004700","DOIUrl":"https://doi.org/10.1136/pn-2025-004700","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144761715","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
Immune checkpoint inhibitor-associated bilateral optic neuritis. 免疫检查点抑制剂相关的双侧视神经炎。
IF 2.3
PRACTICAL NEUROLOGY Pub Date : 2025-07-30 DOI: 10.1136/pn-2025-004640
Chris Gyan, Maria Bonello, Ashwin Arnold Pinto
{"title":"Immune checkpoint inhibitor-associated bilateral optic neuritis.","authors":"Chris Gyan, Maria Bonello, Ashwin Arnold Pinto","doi":"10.1136/pn-2025-004640","DOIUrl":"https://doi.org/10.1136/pn-2025-004640","url":null,"abstract":"<p><p>Optic neuritis is a rare immune-related adverse event of immune checkpoint inhibitor use and may result in poor visual outcomes. We describe an elderly woman with metastatic malignant melanoma treated with nivolumab, a programmed cell death protein 1 immune checkpoint inhibitor. After 2 months, she developed bilateral painless loss of vision due to optic neuritis. Although there is limited evidence, expert opinion favours early corticosteroid use and/or plasma exchange, as recommended for neuromyelitis optica spectrum disorders. Optic neuritis is increasingly recognised as an immune-related adverse event, likely to occur more frequently with greater use of immune checkpoint inhibitors. Its early recognition is important as prompt treatment can improve outcomes.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144761716","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
Relapsing granulomatous amoebic encephalitis. 复发性肉芽肿性阿米巴脑炎。
IF 2.3
PRACTICAL NEUROLOGY Pub Date : 2025-07-29 DOI: 10.1136/pn-2025-004674
Sampurna Chowdhury, Yamini Priyanka, Ayush Agarwal, Divyani Garg, Ajay Garg, Hemlata Jangir, Achal K Srivastava
{"title":"Relapsing granulomatous amoebic encephalitis.","authors":"Sampurna Chowdhury, Yamini Priyanka, Ayush Agarwal, Divyani Garg, Ajay Garg, Hemlata Jangir, Achal K Srivastava","doi":"10.1136/pn-2025-004674","DOIUrl":"https://doi.org/10.1136/pn-2025-004674","url":null,"abstract":"<p><p>Free-living amoebae like <i>Naegleria fowleri</i>, <i>Acanthamoeba</i> or <i>Balamuthia mandrillaris</i> are rare causes of central nervous system infections. <i>Naegleria fowleri</i> causes primary amoebic meningoencephalitis, whereas the latter two cause granulomatous amoebic encephalitis, which usually occurs in immunocompromised people and is almost universal fatal despite treatment. Early diagnosis is challenging due to the non-specific neurological symptoms, and there are no specific treatment guidelines. We report a case of successfully treated relapsing <i>Acanthamoeba</i> encephalitis in an immunocompetent individual.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745389","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
Myasthenic syndromes: mistaking genetic for acquired. 肌无力综合征：误以为遗传为后天。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-22 DOI: 10.1136/pn-2025-004528
Leighann Henehan, Elena Rossini, Isobel Sarah Platt, Yin Yao Dong, David Beeson, Geraint N Fuller, Maria Isabel Leite, Jacqueline Palace
{"title":"Myasthenic syndromes: mistaking genetic for acquired.","authors":"Leighann Henehan, Elena Rossini, Isobel Sarah Platt, Yin Yao Dong, David Beeson, Geraint N Fuller, Maria Isabel Leite, Jacqueline Palace","doi":"10.1136/pn-2025-004528","DOIUrl":"https://doi.org/10.1136/pn-2025-004528","url":null,"abstract":"<p><p>Congenital myasthenic syndromes (CMS) are a rare, heterogeneous group of disorders caused by pathogenic variants in genes encoding proteins essential for neuromuscular transmission. <i>DOK7</i> variants are among the most common causes of CMS and one of the subtypes that may worsen with pyridostigmine. We report two patients who presented in adulthood with fatigable limb girdle weakness, initially diagnosed with seronegative myasthenia gravis, who slowly progressed over time despite escalating treatment and eventually needed intensive care admission. Revisiting the history led to the diagnosis of DOK7 CMS. Both patients improved after stopping immunosuppressants and pyridostigmine and starting salbutamol. These cases highlight the importance of considering CMS in patients with seronegative myasthenia gravis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691885","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
Editors' commentary. 编辑的评论。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2025-004767
Phil Smith, Geraint N Fuller
{"title":"Editors' commentary.","authors":"Phil Smith, Geraint N Fuller","doi":"10.1136/pn-2025-004767","DOIUrl":"https://doi.org/10.1136/pn-2025-004767","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"25 4","pages":"297"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638353","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
Xanthomatous hypophysitis relapsing and remitting over two decades. 黄瘤性垂体炎复发和缓解超过二十年。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2024-004430
Kabir Khan Nazeer, Salhin Alatrash, Sawsan Elsheikh, Saiju Jacob
{"title":"Xanthomatous hypophysitis relapsing and remitting over two decades.","authors":"Kabir Khan Nazeer, Salhin Alatrash, Sawsan Elsheikh, Saiju Jacob","doi":"10.1136/pn-2024-004430","DOIUrl":"10.1136/pn-2024-004430","url":null,"abstract":"<p><p>Inflammation of the pituitary gland can be primary (without another underlying cause) or secondary (associated with a systemic inflammatory condition). Primary hypophysitis is very rare, among which xanthomatous hypophysitis as a histological type is extremely unusual. A woman in her late 50s presented with recurrent pituitary lesions over 20 years. Her general practitioner had diagnosed panhypopituitarism in her 30s; a decade later, she had presented to ophthalmology with visual loss and restricted visual fields, and a pituitary lesion was found. This recurred several times requiring multiple resections. Histopathology showed atypical inflammation in keeping with xanthomatous hypophysitis; this responded well to corticosteroid therapy. Xanthomatous hypophysitis is a rare form of steroid-responsive primary pituitary inflammation, to consider in the differential diagnosis of recurring pituitary lesions.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"359-362"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068577","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
Health anxiety in a neurological setting. 神经系统中的健康焦虑。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2024-004293
Huw Green, Jon Stone
{"title":"Health anxiety in a neurological setting.","authors":"Huw Green, Jon Stone","doi":"10.1136/pn-2024-004293","DOIUrl":"10.1136/pn-2024-004293","url":null,"abstract":"<p><p>Health anxiety is a common issue in neurology clinics. However, it needs to be separated from normal health concerns as well as from the category of functional symptoms and disorders. Reassurance in health anxiety, which the patient often seeks, is ineffective and can worsen the problem. There are effective and brief psychological treatments; however, for patients to engage with treatment, they need to receive accurate early diagnosis and education. This article explains the nature of health anxiety and introduces the rationale of its treatment. We make several practical suggestions to help neurologists to maximise the chances of successfully referring their patients for psychological therapy.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"330-336"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469527","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 : 2025-07-14 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":"356-358"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","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
ABN news. 荷兰银行的消息。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2025-004754
Biba Stanton, Maya McCourt
{"title":"ABN news.","authors":"Biba Stanton, Maya McCourt","doi":"10.1136/pn-2025-004754","DOIUrl":"https://doi.org/10.1136/pn-2025-004754","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"25 4","pages":"388"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638352","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
Serum creatine kinase: requesting and interpreting results. 血清肌酸激酶：请求和解释结果。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2024-004422
Jon Walters, Gaafar Gailani
{"title":"Serum creatine kinase: requesting and interpreting results.","authors":"Jon Walters, Gaafar Gailani","doi":"10.1136/pn-2024-004422","DOIUrl":"10.1136/pn-2024-004422","url":null,"abstract":"<p><p>Creatine kinase is an intracellular enzyme found abundantly in skeletal muscle, myocardium and brain. It is well known as a biomarker that increases following skeletal muscle damage and doctors instinctively associate it with myopathies. Serum creatine kinase is undoubtedly often raised in many myopathies and the extent of increase may provide a clue to the myopathic culprit. However, in other myopathies, it may be normal or only marginally raised, and rarely it is normal when the underlying pathology suggests that it should be very raised. Creatine kinase can also be raised in neurogenic disorders, and it can help in the investigation of some neurological disorders that are unrelated to neuromuscular disease. Finally, it may be discovered to be mysteriously elevated without a clear clinical correlate. Here, we examine each of these conundrums, beginning with the clinical problem at hand.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"323-329"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442437","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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