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":null,"pages":null},"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}
Shadi El-Wahsh, Clare Fraser, Steve Vucic, Stephen Reddel
{"title":"Neuromuscular junction disorders: mimics and chameleons.","authors":"Shadi El-Wahsh, Clare Fraser, Steve Vucic, Stephen Reddel","doi":"10.1136/pn-2024-004148","DOIUrl":"https://doi.org/10.1136/pn-2024-004148","url":null,"abstract":"<p><p>Neuromuscular junction (NMJ) disorders represent a heterogenous group of acquired and congenital disorders that present in variable and distinctive ways. The diagnosis is typically reached through a combination of clinical, serological, pharmacological and electrophysiological evaluation. While the diagnosis can be fairly straightforward in some cases, the overlap with other neurological disorders can make diagnosis challenging, particularly in pure ocular presentations and in seronegative patients. The over-reliance on serological tests and electrophysiological evaluation in isolation can lead to misdiagnosis. In this article, we provide an overview of the NMJ disorders, discuss red flags for the key differential diagnoses (mimics) and report the atypical ways in which NMJ disorders may present (chameleons).</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037256","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}
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":null,"pages":null},"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}
{"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":null,"pages":null},"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}
Mahima Kapoor, Anthony Khoo, Michael P T Lunn, Stephen Reddel, Aisling S Carr
{"title":"Immunoglobulin use in neurology: a practical approach.","authors":"Mahima Kapoor, Anthony Khoo, Michael P T Lunn, Stephen Reddel, Aisling S Carr","doi":"10.1136/pn-2022-003655","DOIUrl":"https://doi.org/10.1136/pn-2022-003655","url":null,"abstract":"<p><p>Human immunoglobulin, delivered either intravenously (IVIg) or subcutaneously, is used to treat a range of immune-mediated neurological disorders. It has a role in acute or subacute inflammatory disease control and as a maintenance therapy in chronic disease management. This review considers mechanisms of IVIg action and the evidence for IVIg in neurological conditions. We use Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) as frameworks to demonstrate an approach to IVIg use in acute and chronic dysimmune neurological conditions across two different healthcare systems: the UK and Australia. We highlight the benefits and limitations of IVIg and focus on practical considerations such as informed consent, managing risks and adverse effects, optimal dosing and monitoring response. We use these basic clinical practice principles to discuss the judicious use of an expensive and scarce blood product with international relevance.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890344","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}
{"title":"Carphology","authors":"A Fo Ben","doi":"10.1136/pn-2024-004291","DOIUrl":"https://doi.org/10.1136/pn-2024-004291","url":null,"abstract":"As if the poor lab mouse hasn’t had it hard enough, these stoic cheese stealers are now encouraged to develop murine long-COVID. Brain fog is a common symptom and interleukin-1, critical in the innate defence against the pandemic virus, is elevated in the hippocampi of people who’ve had COVID. Researchers set out to investigate the impact of vaccination on this process. They confirm that SARS-CoV-2 but not H1N1 flu induces the indicative rise of interleukin-1beta and a persistent interleukin driven loss of hippocampal neurogenesis, which was ameliorated when the mice were vaccinated against COVID. Nat Immunol . 2024 doi:10.1038/s41590-024-01868-z. Neurological pragmatists keen to super-charge the placebo value …","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141721368","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}
{"title":"Watch for inclusion body myositis.","authors":"Martijn Thomas Wijburg, Joost Raaphorst","doi":"10.1136/pn-2024-004256","DOIUrl":"https://doi.org/10.1136/pn-2024-004256","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876253","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}
{"title":"Retinal vasculopathy with cerebral leukoencephalopathy: a rare mimic of CNS vasculitis.","authors":"Andrew J Martin","doi":"10.1136/pn-2024-004246","DOIUrl":"https://doi.org/10.1136/pn-2024-004246","url":null,"abstract":"<p><p>Retinal vasculopathy with cerebral leukoencephalopathy is a rare autosomal dominant genetic disorder due to mutation in the <i>TREX1</i> gene and presents with both central nervous system (CNS) and other organ dysfunction. It is often misdiagnosed as demyelination or vasculitis based on imaging features, often with potentially harmful immunotherapy given unnecessarily. This report describes two sisters with progressive hemiparesis, retinal vasculopathy and hepatic dysfunction, one of whom was initially misdiagnosed and treated for cerebral vasculitis. Imaging showed extensive and asymmetric white matter lesions with persistent diffusion restriction and contrast enhancement. Extensive autoimmune and infectious investigations were unremarkable. Both patients had a novel heterozygous variant in the <i>TREX1</i> gene, giving a diagnosis of retinal vasculopathy with cerebral leukoencephalopathy. Clinicians should consider this condition in atypical presentations of suspected demyelination or CNS vasculitis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861187","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}
Maria Francisca Rocha, Hamish D C Bain, Neil Stone, David Meya, Lucia Darie, Ahmed K Toma, Michael P T Lunn, Arpan R Mehta, Charles Coughlan
{"title":"Reframing the clinical phenotype and management of cryptococcal meningitis.","authors":"Maria Francisca Rocha, Hamish D C Bain, Neil Stone, David Meya, Lucia Darie, Ahmed K Toma, Michael P T Lunn, Arpan R Mehta, Charles Coughlan","doi":"10.1136/pn-2024-004133","DOIUrl":"10.1136/pn-2024-004133","url":null,"abstract":"<p><p>Cryptococcal meningitis is an important global health problem, resulting from infection with the yeast <i>Cryptococcus</i>, especially <i>Cryptococcus neoformans</i> and <i>Cryptococcus gattii</i>, which cause a spectrum of disease ranging from pulmonary and skin lesions to life-threatening central nervous system involvement. The diagnosis and management of cryptococcal meningitis have substantially changed in recent years. Cryptococcal meningitis often occurs in people living with advanced HIV infection, though in high-income countries with robust HIV detection and treatment programmes, it increasingly occurs in other groups, notably solid-organ transplant recipients, other immunosuppressed patients and even immunocompetent hosts. This review outlines the clinical presentation, management and prognosis of cryptococcal meningitis, including its salient differences in people living with HIV compared with HIV-negative patients. We discuss the importance of managing raised intracranial pressure and highlight the advantages of improved multidisciplinary team working involving neurologists, infectious disease specialists and neurosurgeons.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141601951","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}
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