Aaron Jesuthasan, Aytakin Khalil, Samir Mahboobani, Luke Dixon, Paul Bentley
{"title":"Cerebral air embolism in vascular Ehlers-Danlos syndrome: a retrospective diagnosis.","authors":"Aaron Jesuthasan, Aytakin Khalil, Samir Mahboobani, Luke Dixon, Paul Bentley","doi":"10.1136/pn-2025-004616","DOIUrl":"https://doi.org/10.1136/pn-2025-004616","url":null,"abstract":"<p><p>We describe a case of cerebral air embolism in a man with vascular Ehlers-Danlos syndrome. The key learning point is that cerebral air embolism can cause a florid encephalopathy and MR imaging appearance, yet the causative diagnosis may be made only by carefully scrutinising the CT scan, rather than the MRI. This patient was incorrectly diagnosed with posterior reversible encephalopathy syndrome before subsequent closer inspection of the CT scan at presentation disclosed the true diagnosis. Other diagnostic clues were the close temporal proximity to events that might introduce air into the systemic circulation (eg, thoracic procedures) or syndromes that predispose people to cerebral air embolism. The likely cause in this case was a transient bronchovenous fistula associated with vascular Ehlers-Danlos syndrome. Prompt identification of cerebral air embolism allows supportive measures to be started to prevent potentially fatal sequelae.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267560","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}
Pedro Fraiman, Thiago Yoshinaga Tonholo Silva, Breno Kazuo Massuyama, Luiza Alves Corazza, Luane Abdalla Gouvea, Ivana Rocha Raslan, Orlando G P Barsottini, José Luiz Pedroso
{"title":"EAST syndrome: when the nephrologist calls the neurologist.","authors":"Pedro Fraiman, Thiago Yoshinaga Tonholo Silva, Breno Kazuo Massuyama, Luiza Alves Corazza, Luane Abdalla Gouvea, Ivana Rocha Raslan, Orlando G P Barsottini, José Luiz Pedroso","doi":"10.1136/pn-2025-004565","DOIUrl":"https://doi.org/10.1136/pn-2025-004565","url":null,"abstract":"<p><p>A 32-year-old woman had experienced recurrent seizures since infancy, with progressive ataxia, dystonia, and electrolyte disturbances, suggesting a possible genetic tubulopathy with neurological manifestations. The complexity of her presentation highlights the importance of a multidisciplinary approach and the role of genetic investigations in uncovering rare conditions that bridge neurology and nephrology.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217170","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":"Treating anxiety and depression in people with epilepsy.","authors":"Emanuele F Osimo, Paul C Fletcher, Thomas E Cope","doi":"10.1136/pn-2024-004424","DOIUrl":"https://doi.org/10.1136/pn-2024-004424","url":null,"abstract":"<p><p>The major barriers to detecting, diagnosing and treating depression in the epilepsy clinic are a lack of confidence and a lack of time. Patients with epilepsy have a significantly increased risk of anxiety and depression, and an increased risk of suicide, so conversations about mood should be considered as routine as conversations about SUDEP (sudden unexpected death in epilepsy). Neurologists should feel confident in prescribing serotonin reuptake inhibitors and should know how to refer to local next-stage mental health services if required. Access to psychological well-being services is better than most people are aware of, and self-referral is possible. We would encourage neurologists to strongly consider mental health when prescribing antiseizure medications, especially levetiracetam, and to disseminate such considerations to acute medical, anaesthetic and neurosurgical colleagues. We provide some simple, practical advice to equip neurologists and epilepsy nurses to talk to patients about their mental health and to take initial steps towards treatment.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175203","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 aspects of drug misuse.","authors":"Robin S Howard, Paul Holmes, Paul Dargan","doi":"10.1136/pn-2023-003796","DOIUrl":"https://doi.org/10.1136/pn-2023-003796","url":null,"abstract":"<p><p>The misuse of illicit drugs and prescription medications may cause neurological complications from overdose, withdrawal and long-term chronic misuse. Drug-use disorder has become particularly important and complex because of different patterns of presentation associated with new psychoactive substances and the growing misuse of opioids, synthetic cannabinoids and stimulants. We review worldwide demographic data of drug-use disorder and discuss the individual classes of agents, newer developments relating to understanding the mechanisms of action and the patterns of administration, usage, toxicity and withdrawal. We consider the difficulties in assessment and the specific acute syndromes of toxicity that present with neurological manifestations. We review the neurological patterns of longer-term complications and consider the effects of drug misuse-related trauma, infection, seizures, stroke, toxic leucoencephalopathy, cognitive impairment, movement disorders and neuromuscular complications. The neurological consequences of drug-use disorder disproportionately affect the young and can have devastating effects on innocent lives. It is essential that neurologists recognise acute toxicity early and understand the longer-term consequences of drug-use disorder.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144162764","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}
Giovanni Siconolfi, Cristiano Pecchioli, Petra Vukoja, Fabrizio Vecchio, Francesco Iodice, Antonio Marrone, Alberto Pierallini, Paolo Maria Rossini
{"title":"Cortical deafness following embolic strokes.","authors":"Giovanni Siconolfi, Cristiano Pecchioli, Petra Vukoja, Fabrizio Vecchio, Francesco Iodice, Antonio Marrone, Alberto Pierallini, Paolo Maria Rossini","doi":"10.1136/pn-2025-004559","DOIUrl":"https://doi.org/10.1136/pn-2025-004559","url":null,"abstract":"<p><p>Cortical deafness is exceedingly rare and is caused by bilateral failure of the auditory cortices, due to structural damage such as ischaemic stroke, while the peripheral and brainstem auditory structures remain unaffected. We describe a woman who acutely developed bilateral neurosensorial hypoacusis following a bilateral cardioembolic ischaemic stroke, due to takotsubo cardiomyopathy, affecting the primary auditory areas of the temporal lobes. She partially recovered over several months, with noticeably improved auditory function and gradual normalisation of auditory brainstem responses and evoked potentials. Her language comprehension markedly improved, with substantially enhanced ability to process and understand spoken language. Nevertheless, mild language impairments persisted. We explore the neurophysiological assessment of cortical deafness and its prognosis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143888","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":"A 38-year-old man with unsteadiness and difficulty walking.","authors":"Aye Moe, Charles Fry, Mark R Baker, Yi Shiau Ng","doi":"10.1136/pn-2024-004352","DOIUrl":"https://doi.org/10.1136/pn-2024-004352","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133156","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}
Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan
{"title":"Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum.","authors":"Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan","doi":"10.1136/pn-2024-004441","DOIUrl":"10.1136/pn-2024-004441","url":null,"abstract":"<p><p>Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"250-252"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956446","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}