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Bulbar oedema complicating surgery for Chiari malformation. Chiari畸形手术并发球部水肿。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-09-04 DOI: 10.1136/pn-2024-004245
Alvaro Urbaneja, David Gimeno, Carlos Velasquez, Ruben Martin, Patricia Lopez Gomez
{"title":"Bulbar oedema complicating surgery for Chiari malformation.","authors":"Alvaro Urbaneja, David Gimeno, Carlos Velasquez, Ruben Martin, Patricia Lopez Gomez","doi":"10.1136/pn-2024-004245","DOIUrl":"https://doi.org/10.1136/pn-2024-004245","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141322","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
CSF1 receptor-related leukoencephalopathy. CSF1 受体相关性白质脑病
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-09-04 DOI: 10.1136/pn-2024-004268
Ikechukwu Chukwuocha, Simon Ubben, Mary O'Driscoll, Alison Seymour
{"title":"CSF1 receptor-related leukoencephalopathy.","authors":"Ikechukwu Chukwuocha, Simon Ubben, Mary O'Driscoll, Alison Seymour","doi":"10.1136/pn-2024-004268","DOIUrl":"https://doi.org/10.1136/pn-2024-004268","url":null,"abstract":"<p><p>A 51-year-old woman developed subacute progressive gait and cognitive difficulties, with depression and anxiety. She had psychomotor slowing, axial rigidity, fixed dystonic posturing of right hand and symmetrical generalised bradykinesia. MR brain scan identified bilateral multifocal non-enhancing high signal intensity in the frontal subcortical and periventricular areas, with corpus callosal thinning and areas of paraventricular diffusion restriction, suggesting an adult-onset leukodystrophy. Genetic analysis identified a heterogenous pathogenic variant in the colony-stimulating factor 1 receptor (CSF1R) causing this autosomal dominant leukoencephalopathy (OMIM 221820). The patient was unusual in having a CSF1R-related leukoencephalopathy without a relevant family history.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141324","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
Epidural blood patching in an anticoagulated patient with intracranial hypotension. 在一名颅内低血压的抗凝患者身上进行硬膜外充血。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-09-04 DOI: 10.1136/pn-2024-004218
Gabriela Petersen, Mónica Edith Salmerón-Mercado, Karla Madrigal-Rentería, Alexandra Díaz-Alba, Víctor García-Navarro
{"title":"Epidural blood patching in an anticoagulated patient with intracranial hypotension.","authors":"Gabriela Petersen, Mónica Edith Salmerón-Mercado, Karla Madrigal-Rentería, Alexandra Díaz-Alba, Víctor García-Navarro","doi":"10.1136/pn-2024-004218","DOIUrl":"https://doi.org/10.1136/pn-2024-004218","url":null,"abstract":"<p><p>A middle-aged man had classical clinical and radiographical features of spontaneous intracranial hypotension, refractory to conservative management. His medical history included antiphospholipid syndrome, autoimmune thrombocytopenia and recurrent thrombotic events. To reduce his risk from epidural blood patching, we stopped his anticoagulation, but he developed thrombosis. Despite therapeutic challenges, we performed a fluoroscopically guided epidural blood patch successfully at multiple levels, with significant symptom and radiological improvement maintained at 9 months. We review the place of epidural blood patching in people with spontaneous intracranial hypotension who either take anticoagulants or have coexisting blood disorders.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141325","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
Stiff-person syndrome. 僵人综合征
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-09-02 DOI: 10.1136/pn-2023-003974
Smriti Bose, Saiju Jacob
{"title":"Stiff-person syndrome.","authors":"Smriti Bose, Saiju Jacob","doi":"10.1136/pn-2023-003974","DOIUrl":"https://doi.org/10.1136/pn-2023-003974","url":null,"abstract":"<p><p>Stiff-person syndrome (SPS) is an autoimmune disease associated mainly with antibodies to glutamic acid decarboxylase (GAD) or to glycine, characterised by intermittent painful spasms, stiffness and rigidity of the proximal and truncal muscles. Neuro-ophthalmological and gastrointestinal symptoms also occur. The symptoms are caused by neuronal excitability due to impaired inhibitory (gamma amino butyric acid [GABA] and glycine) neurotransmission. SPS is part of a larger spectrum of GAD antibody-spectrum disorders, which overlaps with autoimmune epilepsy, cerebellar ataxia, myoclonus, progressive encephalomyelitis, rigidity and myoclonus (PERM) and limbic encephalitis. PERM is often caused by antibodies against the glycine receptor. Some SPS cases are paraneoplastic. Diagnostic delay is often associated with irreversible disability, and therefore, clinicians need a high degree of clinical suspicion to make an earlier diagnosis. This review updates the various clinical presentations that should raise suspicion of SPS and its related conditions and includes a diagnostic algorithm and various treatment strategies including immunotherapy and GABA-ergic drugs.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120802","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
Cold Comfort Farm by Stella Gibbons. 斯特拉-吉本斯（Stella Gibbons）的《冷酷舒适农场》。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-09-02 DOI: 10.1136/pn-2024-004338
Matthew D Smith
{"title":"Cold Comfort Farm by Stella Gibbons.","authors":"Matthew D Smith","doi":"10.1136/pn-2024-004338","DOIUrl":"https://doi.org/10.1136/pn-2024-004338","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120840","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
Idiopathic pulmonary vein thrombosis: an under-recognised source of embolic stroke. 特发性肺静脉血栓：认识不足的栓塞性中风源头。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-08-29 DOI: 10.1136/pn-2024-004244
Y Muralidhar Reddy, Subhendu Parida, Manvitha Reddy, Johann Christopher, Lalitha Pidaparthi, Abhinay Kumar Gattu, J M K Murthy
{"title":"Idiopathic pulmonary vein thrombosis: an under-recognised source of embolic stroke.","authors":"Y Muralidhar Reddy, Subhendu Parida, Manvitha Reddy, Johann Christopher, Lalitha Pidaparthi, Abhinay Kumar Gattu, J M K Murthy","doi":"10.1136/pn-2024-004244","DOIUrl":"https://doi.org/10.1136/pn-2024-004244","url":null,"abstract":"<p><p>Embolic stroke due to pulmonary vein thrombosis is rare but may be associated with lung and left atrial tumours, pulmonary surgery, atrial fibrillation and radiofrequency ablation. It is very rarely idiopathic. A 23-year-old man developed acute onset of a left partial third nerve palsy and left ataxic hemiparesis. His MR scan of the brain showed an acute infarct in the left midbrain and left thalamus. CT angiogram found no steno-occlusive disease and transthoracic echocardiogram was normal. However, a transoesophageal echocardiogram showed a hyperechoic mass projecting from the right inferior pulmonary vein, confirmed on cardiac MR scan to be a right inferior pulmonary vein thrombus. A cardiac loop recorder did not capture an atrial arrhythmia. CT scan of the chest found no significant abnormality in the pulmonary parenchyma. Investigations for hypercoagulable state were negative. He took dabigatran for 6 months with complete resolution of thrombus.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113093","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
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 : 2024-08-28 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":"https://doi.org/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":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-28","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
Evaluation of small fibre neuropathies. 评估小纤维神经病。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-08-23 DOI: 10.1136/pn-2023-004054
Naveed Malek, Joseph Hutchinson, Asma Naz, Carla Cordivari
{"title":"Evaluation of small fibre neuropathies.","authors":"Naveed Malek, Joseph Hutchinson, Asma Naz, Carla Cordivari","doi":"10.1136/pn-2023-004054","DOIUrl":"https://doi.org/10.1136/pn-2023-004054","url":null,"abstract":"<p><p>Small fibre neuropathies (SFNs) are common and can significantly affect patients' lives due to debilitating pain and autonomic symptoms. We explain the tests that neurologists can use to diagnose SFNs and how neurophysiologists perform and interpret them. This review focuses on neurophysiological tests that can be used to investigate SFNs, their sensitivity, specificity and limitations. Some of these tests are available only in specialist centres. However, newer technologies are emerging from scientific research that may make it easier to diagnose these conditions in the future.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142047319","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
Vestibular schwannoma causing normal pressure hydrocephalus. 前庭分裂瘤导致正常压力脑积水。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-08-22 DOI: 10.1136/pn-2024-004240
Alexander Hayes, Mark Wilson, Anastassia Gontsarova, Christopher Carswell
{"title":"Vestibular schwannoma causing normal pressure hydrocephalus.","authors":"Alexander Hayes, Mark Wilson, Anastassia Gontsarova, Christopher Carswell","doi":"10.1136/pn-2024-004240","DOIUrl":"https://doi.org/10.1136/pn-2024-004240","url":null,"abstract":"<p><p>Vestibular schwannoma is a common benign tumour that may cause local complications. However, vestibular schwannoma has a known association with communicating hydrocephalus presenting with symptoms of normal pressure hydrocephalus and requiring treatment by ventricular shunting or tumour resection. We report a 79-year-old woman who presented with subacute gait apraxia, cognitive impairment and urinary incontinence. CT and MR imaging identified a 20 mm vestibular schwannoma and communicating hydrocephalus; her cerebrospinal fluid (CSF) protein was elevated. Her symptoms improved following ventriculoperitoneal shunt insertion. The mechanism by which non-obstructing vestibular schwannoma causes hydrocephalus is unclear, but hyperproteinorrachia is probably important, likely by impeding CSF resorption.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037258","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
Neuropsychiatric decline and status epilepticus in pregnancy. 妊娠期神经精神衰退和癫痫状态。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-08-22 DOI: 10.1136/pn-2024-004283
Ameeta Karmarkar, Jeffrey Gelfand, Nichole Tackett, Emily Black, Rowena Desailly-Chanson, Ryan Lapointe
{"title":"Neuropsychiatric decline and status epilepticus in pregnancy.","authors":"Ameeta Karmarkar, Jeffrey Gelfand, Nichole Tackett, Emily Black, Rowena Desailly-Chanson, Ryan Lapointe","doi":"10.1136/pn-2024-004283","DOIUrl":"https://doi.org/10.1136/pn-2024-004283","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037257","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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