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}
Mitchell Joseph Lycett, Kishore Raj Kumar, Robert Boland-Freitas, Karl Ng
{"title":"Minor head trauma precipitating acute syndromes in neurogenetic disease.","authors":"Mitchell Joseph Lycett, Kishore Raj Kumar, Robert Boland-Freitas, Karl Ng","doi":"10.1136/pn-2024-004312","DOIUrl":"https://doi.org/10.1136/pn-2024-004312","url":null,"abstract":"<p><p>Most minor head injuries have no immediate neurological sequelae. We present a case where acute neurological symptoms followed a very minor head injury, and an underlying genetic cause was identified. We highlight the role that head injuries, even when innocuous, may have in precipitating and worsening a neurogenetic disorder.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053886","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}
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":"https://doi.org/10.1136/pn-2024-004444","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-23","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}
{"title":"Stiff-person syndrome.","authors":"Smriti Bose, Saiju Jacob","doi":"10.1136/pn-2023-003974","DOIUrl":"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":"6-17"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","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}
Anthony C Pereira, Vafa Alakbarzade, Samuel Shribman, Ginette Crossingham, Tom Moullaali, David Werring
{"title":"Stroke as a career option for neurologists.","authors":"Anthony C Pereira, Vafa Alakbarzade, Samuel Shribman, Ginette Crossingham, Tom Moullaali, David Werring","doi":"10.1136/pn-2024-004111","DOIUrl":"10.1136/pn-2024-004111","url":null,"abstract":"<p><p>Stroke is one of the most common acute neurological disorders and a leading cause of disability worldwide. Evidence-based treatments over the last two decades have driven a revolution in the clinical management and design of stroke services. We need a highly skilled, multidisciplinary workforce that includes neurologists as core members to deliver modern stroke care. In the UK, the dedicated subspecialty training programme for stroke medicine has recently been integrated into the neurology curriculum. All neurologists will be trained to contribute to each aspect of the stroke care pathway. We discuss how training in stroke medicine is evolving for neurologists and the opportunities and challenges around practising stroke medicine in the UK and beyond.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"45-50"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141440944","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":"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":" ","pages":"66-69"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","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}
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