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Neurogenic tongue swelling from skull base tumour: bulk without strength. 颅底肿瘤引起的神经源性舌肿：体积大而无强度。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2024-004444
Afa Ibrahim, Athanasios Papathanasiou, Adam G Thomas, Farhan Malik, Christopher Fox, Emily Chernucha, Christopher Martin Allen, Radu Tanasescu
{"title":"Neurogenic tongue swelling from skull base tumour: bulk without strength.","authors":"Afa Ibrahim, Athanasios Papathanasiou, Adam G Thomas, Farhan Malik, Christopher Fox, Emily Chernucha, Christopher Martin Allen, Radu Tanasescu","doi":"10.1136/pn-2024-004444","DOIUrl":"10.1136/pn-2024-004444","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"380-382"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029880","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 : 2025-07-14 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":"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":"345-348"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","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
Progressive tetraparesis and bulbar symptoms. 进行性四肢麻痹和球症状。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2024-004394
Carolina Cunha, Henrique Coimbra de Lemos Queirós, Marco Almeida, Daniela Pereira, João Parente Freixo, Patrícia Marques, Fernando Matias, João Durães
{"title":"Progressive tetraparesis and bulbar symptoms.","authors":"Carolina Cunha, Henrique Coimbra de Lemos Queirós, Marco Almeida, Daniela Pereira, João Parente Freixo, Patrícia Marques, Fernando Matias, João Durães","doi":"10.1136/pn-2024-004394","DOIUrl":"10.1136/pn-2024-004394","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"383-386"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781596","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 : 2025-07-14 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":"366-369"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","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
Classification of the epilepsies: evolving with time, science and knowledge. 癫痫的分类：随时间、科学和知识的演变。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-14 DOI: 10.1136/pn-2024-004486
Arjune Sen, Sameer M Zuberi
{"title":"Classification of the epilepsies: evolving with time, science and knowledge.","authors":"Arjune Sen, Sameer M Zuberi","doi":"10.1136/pn-2024-004486","DOIUrl":"10.1136/pn-2024-004486","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"298-299"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484314","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
Hypocupraemia-related drug-refractory seizures in Wilson disease. Wilson病中与低铜血症相关的药物难治性癫痫发作
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-11 DOI: 10.1136/pn-2025-004598
Sanyam Mahajan, Himanshu Chauhan, Vivek Singh, Vimal Kumar Paliwal
{"title":"Hypocupraemia-related drug-refractory seizures in Wilson disease.","authors":"Sanyam Mahajan, Himanshu Chauhan, Vivek Singh, Vimal Kumar Paliwal","doi":"10.1136/pn-2025-004598","DOIUrl":"https://doi.org/10.1136/pn-2025-004598","url":null,"abstract":"<p><p>Wilson disease is an inherited disorder of copper metabolism caused by an <i>ATP7B</i> gene mutation, which encodes a protein responsible for excreting excess copper into bile and plasma. The excess copper deposits in the liver, brain and cornea. Copper deposition in the brain causes neuronal loss, gliosis and cavitation in the cortex/basal ganglia/brainstem. Cortical lesions increase patients' liability to seizures. Other causes of seizures in Wilson disease include acute copper shifts and pyridoxine deficiency produced by copper chelating drugs and hepatic encephalopathy. Copper-free diets and copper chelating drugs sometimes cause copper deficiency, resulting in anaemia, thrombocytopenia, neuropathy and myeloneuropathy. Hypocupraemia may rarely cause seizures. We describe a patient with Wilson disease who developed refractory focal seizures with impaired awareness that were resistant to multiple antiseizure medications, midazolam, intravenous methylprednisolone (given in view of recent new-onset refractory status epilepticus), parenteral pyridoxine and the treatment for hepatic encephalopathy. His seizures improved promptly with copper supplementation.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144620761","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
Runt by Niall Griffiths. 尼尔·格里菲斯的《矮子》。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-10 DOI: 10.1136/pn-2025-004733
Stephen Patrick Collyer
{"title":"Runt by Niall Griffiths.","authors":"Stephen Patrick Collyer","doi":"10.1136/pn-2025-004733","DOIUrl":"https://doi.org/10.1136/pn-2025-004733","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144609850","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
Occipital condyle syndrome: a rare manifestation of skull base tuberculosis. 枕髁综合征：颅底结核的一种罕见表现。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-10 DOI: 10.1136/pn-2025-004705
Joshua J Hon, Vasundhara Singh, Gerda Reischer, Alistair Lawrence, Joe M Das
{"title":"Occipital condyle syndrome: a rare manifestation of skull base tuberculosis.","authors":"Joshua J Hon, Vasundhara Singh, Gerda Reischer, Alistair Lawrence, Joe M Das","doi":"10.1136/pn-2025-004705","DOIUrl":"https://doi.org/10.1136/pn-2025-004705","url":null,"abstract":"<p><p>A man in his 30s from South Asia presented with progressive neck pain, occipital headache and right-sided tongue deviation (occipital condyle syndrome). Initial imaging identified a destructive skull base lesion involving the right clivus, occipital condyle and C1 vertebra with compression of the hypoglossal nerve, raising concerns for malignancy. Concurrent necrotic mediastinal lymphadenopathy prompted endobronchial ultrasound-guided biopsy, which confirmed necrotising granulomatous lymphadenitis with <i>Mycobacterium tuberculosis</i> complex DNA. Quadruple antituberculous therapy and adjunctive corticosteroids gave significant clinical and radiological improvement at 6 months. This case highlights the importance of considering tuberculosis in the differential diagnosis of destructive skull base lesions even in non-endemic regions and in patients with previously negative TB screening.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144609849","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
Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes. Loeys-Dietz综合征3引起椎动脉夹层伴后循环中风。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-10 DOI: 10.1136/pn-2025-004566
Jacinta Jia-Ching Wong, John Tran, Madhura Bakshi, Yun Tae Hwang, Raymond Lee, Leon Edwards
{"title":"Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.","authors":"Jacinta Jia-Ching Wong, John Tran, Madhura Bakshi, Yun Tae Hwang, Raymond Lee, Leon Edwards","doi":"10.1136/pn-2025-004566","DOIUrl":"https://doi.org/10.1136/pn-2025-004566","url":null,"abstract":"<p><p>Ischaemic strokes in young adults carry considerable mortality and morbidity; however, their cause is often unknown. A 25-year-old man experienced sudden-onset right homonymous hemianopia after 1 week of gradually worsening left-sided neck pain; imaging confirmed left vertebral artery dissection with associated posterior cerebral circulation infarction. Ten days later, he experienced right-sided neck pain consistent with a right vertebral artery dissection, but with no recent trauma. Genetic testing identified a novel heterozygous variant in SMAD3 (<i>Mothers against decapentaplegic homolog 3)</i>, which is associated with Loeys-Dietz syndrome 3. This case highlights the importance of comprehensive diagnostic investigations for young adults with ischaemic stroke, including consideration of genetic testing. Accurately identifying genetic causes of stroke allows improved patient management including familial screening, clinical surveillance and pre-implantation genetic screening.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144609848","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
A breathless young man. 一个气喘吁吁的年轻人。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-07-10 DOI: 10.1136/pn-2025-004658
Satish V Khadilkar, Neekesh Baweja, Jharna Bhanushali
{"title":"A breathless young man.","authors":"Satish V Khadilkar, Neekesh Baweja, Jharna Bhanushali","doi":"10.1136/pn-2025-004658","DOIUrl":"https://doi.org/10.1136/pn-2025-004658","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144609847","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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