{"title":"Welcome to the mainland: general neurology's role in rescue from the islands of subspecialisation.","authors":"Steven Lewis","doi":"10.1136/pn-2024-004206","DOIUrl":"10.1136/pn-2024-004206","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"530-531"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094555","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}
Claire Allen, Kirsty Armstrong, David Game, Lucy Kinton
{"title":"Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis.","authors":"Claire Allen, Kirsty Armstrong, David Game, Lucy Kinton","doi":"10.1136/pn-2024-004172","DOIUrl":"10.1136/pn-2024-004172","url":null,"abstract":"<p><p>Cystinosis is a lysosomal storage disorder usually presenting with renal disease in infancy. As soon as the diagnosis is made, cysteamine (a cystine-depleting medication), is started, significantly improving life expectancy. We describe a young woman taking lifelong cysteamine for nephropathic cystinosis, who became acutely encephalopathic with a spastic tetraparesis secondary to cysteamine toxicity, which was potentially worsened by copper deficiency. On replacing copper and reducing the dose of cysteamine, she made a full neurological recovery. We discuss the case, and review cystinosis and what is known about cysteamine toxicity.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"515-518"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421361","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":"Neurological disorders provoked by head and neck movement.","authors":"Neil Watson","doi":"10.1136/pn-2024-004160","DOIUrl":"10.1136/pn-2024-004160","url":null,"abstract":"<p><p>Neurologists encounter a range of neurological disorders triggered by head and neck movement, reflecting an array of underlying pathologies and producing diverse symptoms. This article provides a practically orientated review of 14 disorders and how to diagnose and manage them, including common disorders such as benign paroxysmal positional vertigo and uncommon entities such as arterial compression syndromes leading to stroke or syncope, mobile intraventricular masses and medication withdrawal states. The article considers atypical scenarios including unusual manifestations and important mimics and discusses controversial entities, as well as the risk of misattributing symptoms based on incidental imaging abnormalities. Guidelines are referenced where they exist, while in rarer situations, approaches taken in published cases are described, with the acknowledgement that management decisions are at the clinician's discretion.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"456-466"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141321769","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":"Crossword.","authors":"Phil E M Smith","doi":"10.1136/pn-2024-004212","DOIUrl":"10.1136/pn-2024-004212","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"24 6","pages":"545-547"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669521","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}
Sara García-Bellido Ruiz, Carlos Santos Martín, Alejandro Herrero San Martín, Carlos Pablo de Fuenmayor Fernández de la Hoz
{"title":"Spinal puncture through a large lumbar tattoo.","authors":"Sara García-Bellido Ruiz, Carlos Santos Martín, Alejandro Herrero San Martín, Carlos Pablo de Fuenmayor Fernández de la Hoz","doi":"10.1136/pn-2024-004194","DOIUrl":"10.1136/pn-2024-004194","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"522-523"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141499193","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":"Recurrent unilateral facial nerve palsy in acute lymphocytic leukaemia.","authors":"Robert Kassinger, Amir Adeli","doi":"10.1136/pn-2024-004175","DOIUrl":"10.1136/pn-2024-004175","url":null,"abstract":"<p><p>A man in his mid-20s developed three episodes of right facial weakness over 5 months. He had a history of B-cell acute lymphoblastic leukaemia (ALL) in remission following allogenic stem cell transplantation. MR scan of brain during the second presentation showed facial nerve enhancement; cerebrospinal fluid (CSF) cytology and flow cytometry were negative. Re-assessment at the third presentation identified CSF B-lymphoblasts, and he was subsequently treated for central nervous system relapse of leukaemia. This case highlights an infrequent presenting symptom of ALL relapse and a rare cause of recurrent facial nerve palsy.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"503-506"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077082","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}
Mary McCullagh, Sinead Hughes, Adam Canning, Seamus Napier, Julian Gillmore, Mark Owen McCarron
{"title":"Hereditary transthyretin amyloidosis presenting with prominent autonomic dysfunction.","authors":"Mary McCullagh, Sinead Hughes, Adam Canning, Seamus Napier, Julian Gillmore, Mark Owen McCarron","doi":"10.1136/pn-2023-004048","DOIUrl":"10.1136/pn-2023-004048","url":null,"abstract":"<p><p>A 56-year-old man reported 2 years of slowly progressive exertional fatigue, presyncope, paraesthesia, generalised weakness and nocturnal bowel frequency. He had an abnormal Valsalva ratio and significant postural hypotension. Serum N-terminal pro-B-type natriuretic peptide and troponin T were elevated. Transthoracic echocardiogram identified thickening of the biventricular walls, interatrial septum and atrioventricular valve leaflets. Global longitudinal strain was reduced with relative apical sparing, suspicious for cardiac amyloidosis. Technetium-99m and 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy supported a diagnosis of transthyretin amyloidosis (ATTR). However, urinary Bence Jones protein (kappa) was identified despite a normal kappa/lambda light chain ratio and no serum paraprotein. Bone marrow and buccal biopsy provided histological confirmation of amyloid. The bone marrow had no evidence of plasma cell dyscrasia but positive TTR immunohistochemistry. The patient had a T60A genetic mutation for hereditary ATTR. Overlapping cardiac and autonomic symptoms prompt an amyloid workup, which then must distinguish AL amyloid from ATTR pathology.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"511-514"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248600","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":"10.1136/pn-2024-004256","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"524-525"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","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":"Cerebrospinal fluid HIV RNA escape syndrome.","authors":"Sian Nasse, Jonathan Underwood, Tom A T Hughes","doi":"10.1136/pn-2024-004117","DOIUrl":"10.1136/pn-2024-004117","url":null,"abstract":"<p><p>A 54-year-old man with treated HIV developed a subacute deterioration of speech, mobility and cognition. Cerebrospinal fluid (CSF) analysis showed a raised protein and a discordant CSF HIV RNA paired with plasma HIV RNA, confirming the diagnosis of CSF HIV RNA escape syndrome. It is important to consider this diagnosis in people with treated HIV who develop new neurological symptoms.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"507-510"},"PeriodicalIF":2.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621156","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}