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Para-infective opsoclonus-myoclonus syndrome due to malaria in a returning traveller. 1例返乡旅行者疟疾引起的副感染性眼阵肌阵挛综合征。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-18 DOI: 10.1136/pn-2025-004514
Hmmtb Herath, Tsneem H S Mbydeen, Kask Karunanayaka, Sunil Wimalaratna
{"title":"Para-infective opsoclonus-myoclonus syndrome due to malaria in a returning traveller.","authors":"Hmmtb Herath, Tsneem H S Mbydeen, Kask Karunanayaka, Sunil Wimalaratna","doi":"10.1136/pn-2025-004514","DOIUrl":"https://doi.org/10.1136/pn-2025-004514","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450594","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
Multiple autoimmunity: neuromyelitis optica spectrum disorder with Lambert-Eaton myasthenic syndrome. 多重自身免疫：视神经脊髓炎谱系障碍伴兰伯特-伊顿肌无力综合征。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-18 DOI: 10.1136/pn-2024-004446
Isobel Sarah Platt, Albert Joseph, Vasiliki Tsirka, Nazia Raja, Maria Garcia, Jacqueline Palace, Ruth Dobson
{"title":"Multiple autoimmunity: neuromyelitis optica spectrum disorder with Lambert-Eaton myasthenic syndrome.","authors":"Isobel Sarah Platt, Albert Joseph, Vasiliki Tsirka, Nazia Raja, Maria Garcia, Jacqueline Palace, Ruth Dobson","doi":"10.1136/pn-2024-004446","DOIUrl":"https://doi.org/10.1136/pn-2024-004446","url":null,"abstract":"<p><p>A 56-year-old woman with a background of neuromyelitis optica spectrum disorder associated with aquaporin-4 antibodies (AQ4-NMOSD) treated with azathioprine, presented with a 2-month history of declining mobility, weight loss and hoarse voice. She had a history of autoimmune thyrotoxicosis and treated hypertension. Given her smoking history, the initial clinical concern was of malignancy. Neurophysiological examination identified severely attenuated responses from the upper and lower limb motor units, with significant neurophysiological incrementation postexercise, indicating a presynaptic neuromuscular junction disorder. Antibody testing showed markedly raised antibodies to the p/q subtype voltage-gated calcium channels, and she was diagnosed with Lambert-Eaton myasthenic syndrome (LEMS). She was treated with 3,4-diaminopyridine and rituximab to maintain remission. Follow-up serial fluorodeoxyglucose positron emission tomography (FDG-PET) CT scans have yet to identify an underlying malignancy. LEMS is associated with additional autoimmune diseases in about half of cases. This case illustrates the importance of recognising other treatable autoimmune conditions in the context of NMOSD.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450591","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
Personal health records: a practical guide for neurologists. 个人健康记录：神经科医生的实用指南。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-17 DOI: 10.1136/pn-2024-004443
Elena Purcaru, Jude Kings, Mavis Ayer, Christopher Kipps, Ashwin Arnold Pinto
{"title":"Personal health records: a practical guide for neurologists.","authors":"Elena Purcaru, Jude Kings, Mavis Ayer, Christopher Kipps, Ashwin Arnold Pinto","doi":"10.1136/pn-2024-004443","DOIUrl":"https://doi.org/10.1136/pn-2024-004443","url":null,"abstract":"<p><p>Digital tools like smartphone applications and wearable health devices support people to play a greater role in their own care and that of others. Personal health records (PHRs) allow users to store information about their health online, to view records held by healthcare services and to add their own information. PHRs have the potential to help people manage their well-being, improve patient care and provide new ways to offer care. This article describes the benefits that PHRs bring to healthcare, their challenges and the practical steps for establishing a PHR platform to connect neurologists with their patients, based on 4 years of PHR experience in our neurology unit.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442436","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 : 2025-02-17 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":"https://doi.org/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":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-17","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
Convexity subarachnoid haemorrhage from a cerebral dural arteriovenous fistula presenting with low back pain. 脑膜动静脉瘘引起的凸出性蛛网膜下腔出血，表现为腰痛。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-17 DOI: 10.1136/pn-2024-004339
Jasmin Chau Minh Le, Jeng Swen Ng, Stephen Bacchi, Michael J Waters, Thomas Kimber
{"title":"Convexity subarachnoid haemorrhage from a cerebral dural arteriovenous fistula presenting with low back pain.","authors":"Jasmin Chau Minh Le, Jeng Swen Ng, Stephen Bacchi, Michael J Waters, Thomas Kimber","doi":"10.1136/pn-2024-004339","DOIUrl":"https://doi.org/10.1136/pn-2024-004339","url":null,"abstract":"<p><p>Convexity subarachnoid haemorrhage (SAH) has many possible causes. A 76-year-old man presented with back pain, left leg weakness, and hypertension. His brain imaging showed convexity SAH, with additional intraventricular blood and extensive spinal SAH from T3-S2. Following deterioration from a probable further haemorrhage, with development of left foot myoclonus, a spinal digital subtraction angiogram was normal but cerebral angiogram identified a cerebral dural arteriovenous fistula, which was successfully embolised. Convexity SAH has a heterogeneous clinical presentation and dural arteriovenous fistula is a potential cause.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442435","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
Adult polyglucosan body disease: ultrarare but commonly misdiagnosed. 成人多葡聚糖体病：罕见但常误诊。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-16 DOI: 10.1136/pn-2024-004429
Francisco Caiza-Zambrano, Mayra Aldecoa, Carlos Rugilo, Ana Lia Taratuto, Cintia Marchesoni, Luciana León-Cejas, Ricardo Reisin, Pablo Bonardo
{"title":"Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.","authors":"Francisco Caiza-Zambrano, Mayra Aldecoa, Carlos Rugilo, Ana Lia Taratuto, Cintia Marchesoni, Luciana León-Cejas, Ricardo Reisin, Pablo Bonardo","doi":"10.1136/pn-2024-004429","DOIUrl":"10.1136/pn-2024-004429","url":null,"abstract":"<p><p>Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in <i>GBE-1</i> gene. Affected patients typically have urinary dysfunction, progressive gait disturbance and cognitive impairment. We report a 63-year-old woman with urinary incontinence, walking difficulty and episodes of forgetfulness. She had symmetrical limb weakness with upper motor neurone signs, distal sensory loss and a broad-based ataxic gait. MR scans of the brain and spine showed white matter changes with cerebellar and spinal cord atrophy. Sural nerve biopsy identified intra-axonal polyglucosan bodies. A multigene panel test identified a <i>GBE-1</i> pathogenic variant, confirming the diagnosis of adult polyglucosan body disease. This case emphasises the importance of considering rare genetic disorders in people with autonomic dysfunction, mixed upper and lower motor neurone signs, peripheral neuropathy and cognitive impairment.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410978","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
Susac's syndrome: diagnostic challenges. 苏萨克综合征：诊断挑战。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-06 DOI: 10.1136/pn-2024-004462
Khuloud Elsabbagh, Mai Elrayes, Amit Herwadkar, Amira Stylianides, David Gosal, Nazar Sharaf
{"title":"Susac's syndrome: diagnostic challenges.","authors":"Khuloud Elsabbagh, Mai Elrayes, Amit Herwadkar, Amira Stylianides, David Gosal, Nazar Sharaf","doi":"10.1136/pn-2024-004462","DOIUrl":"https://doi.org/10.1136/pn-2024-004462","url":null,"abstract":"<p><p>A 39-year-old woman presented with headaches, slurred speech, facial weakness and brief altered sensations, together with non-specific visual disturbances, unsteadiness and falls. Despite initial treatment with intravenous methylprednisolone, her condition worsened with cognitive decline, confusion, ataxia and incontinence. We diagnosed Susac's syndrome having excluded other causes. Her management was difficult, taking 4 months to achieve remission with corticosteroids, rituximab, cyclophosphamide and intravenous immunoglobulin (Ig). She continues to be on aspirin, intravenous Ig and mycophenolate mofetil to maintain remission, with cyclophosphamide planned for possible relapses.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366123","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
New-onset prolonged psychosis from non-convulsive status epilepticus. 非惊厥性癫痫持续状态引起的新发延长精神病。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-03 DOI: 10.1136/pn-2024-004406
Tiago Jesus, Ana Rita Peralta, Mafalda Moreira, Cândida Barroso, Vânia Almeida
{"title":"New-onset prolonged psychosis from non-convulsive status epilepticus.","authors":"Tiago Jesus, Ana Rita Peralta, Mafalda Moreira, Cândida Barroso, Vânia Almeida","doi":"10.1136/pn-2024-004406","DOIUrl":"https://doi.org/10.1136/pn-2024-004406","url":null,"abstract":"<p><p>The most common ictal psychiatric symptom is fear, followed by ictal depression, and least commonly ictal psychosis. A 44-year-old man with poststroke focal epilepsy developed new-onset behavioural change, disorientation, hallucinations and delusions, persisting for several months before medical evaluation. He was agitated, disorientated, with impaired memory and disorganised thinking, but had no minor epileptic motor signs. His EEG showed electroclinical status epilepticus. His psychotic symptoms persisted despite seizure control and required antipsychotic treatment. Ictal psychosis is rare but clinicians should suspect this in people with epilepsy with new-onset behavioural change. Rarely, it can persist for months, sometimes needing antipsychotic treatment.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123781","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
The electroencephalogram in the diagnosis and classification of status epilepticus: a practical guide. 脑电图在癫痫持续状态诊断和分类中的实用指南。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-31 DOI: 10.1136/pn-2024-004336
Hannah Ford, Udaya Seneviratne
{"title":"The electroencephalogram in the diagnosis and classification of status epilepticus: a practical guide.","authors":"Hannah Ford, Udaya Seneviratne","doi":"10.1136/pn-2024-004336","DOIUrl":"https://doi.org/10.1136/pn-2024-004336","url":null,"abstract":"<p><p>Status epilepticus is a serious neurological emergency requiring swift recognition and treatment. Presentations with prominent motor features are easily recognised but it can be challenging to diagnose those with subtle or no motor features. Electroencephalogram (EEG) remains indispensable in diagnosing, classifying, monitoring and prognosticating of status epilepticus. There are several separate classification systems for seizures, epilepsy and status epilepticus, incorporating clinical features, causes and EEG correlates. This review focuses on using EEG in status epilepticus and provides a practical approach to diagnosis and classification aligning with the current International League Against Epilepsy and American Clinical Neurophysiology Society definitions.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075886","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 : 2025-01-30 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":"https://doi.org/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":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-30","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
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