Francisco Caiza-Zambrano, Mayra Aldecoa, Carlos Rugilo, Ana Lia Taratuto, Cintia Marchesoni, Luciana León-Cejas, Ricardo Reisin, Pablo Bonardo
{"title":"Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.","authors":"Francisco Caiza-Zambrano, Mayra Aldecoa, Carlos Rugilo, Ana Lia Taratuto, Cintia Marchesoni, Luciana León-Cejas, Ricardo Reisin, Pablo Bonardo","doi":"10.1136/pn-2024-004429","DOIUrl":"10.1136/pn-2024-004429","url":null,"abstract":"<p><p>Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in <i>GBE-1</i> gene. Affected patients typically have urinary dysfunction, progressive gait disturbance and cognitive impairment. We report a 63-year-old woman with urinary incontinence, walking difficulty and episodes of forgetfulness. She had symmetrical limb weakness with upper motor neurone signs, distal sensory loss and a broad-based ataxic gait. MR scans of the brain and spine showed white matter changes with cerebellar and spinal cord atrophy. Sural nerve biopsy identified intra-axonal polyglucosan bodies. A multigene panel test identified a <i>GBE-1</i> pathogenic variant, confirming the diagnosis of adult polyglucosan body disease. This case emphasises the importance of considering rare genetic disorders in people with autonomic dysfunction, mixed upper and lower motor neurone signs, peripheral neuropathy and cognitive impairment.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410978","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":"Hoover's sign is a sign of functional weakness: or is it more?","authors":"Jan Coebergh","doi":"10.1136/pn-2024-004385","DOIUrl":"https://doi.org/10.1136/pn-2024-004385","url":null,"abstract":"<p><p>Hoover's sign has long been used to support a clinical diagnosis of functional weakness. However, it also occurs in people with pain, other functional disorders and functional neurological disorder without weakness. Some of its clinical characteristics, such as being more prominent with visual attention, suggest it might be reframed as a sign of agency. The experience, reflections and awareness of people with an abnormal Hoover's sign can be seen in this context. Reframing Hoover's sign by linking it to agency, and extending it to other clinical scenarios, could help clinicians and, most importantly, patients.Hoover's sign has long been used to support a clinical diagnosis of functional weakness. This does not explain why it can be found in pain, other functional disorders and functional neurological disorder without weakness. It can be reframed as a sign of agency by looking at clinical nuggets like Hoover's in structural changes in the brain and other disorders and clinical characteristics, like it being more prominent with visual attention. The clinical experience of people with an abnormal Hoover's sign and their reflections and awareness can be seen in this context.A recently discovered clinical technique of inducing it briefly in healthy people with pressure on the patella or tonic vibration is discussed. This illustrates the importance of sensory processing (especially sensory attenuation and proprioception) and learning/habituation to stimuli, which is known to be altered in functional neurological disorder and other functional disorders.Reframing Hoover's sign by linking it to agency and extending it to other clinical scenarios could help clinicians, neuroscience and, most importantly, patients.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411005","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}
Khuloud Elsabbagh, Mai Elrayes, Amit Herwadkar, Amira Stylianides, David Gosal, Nazar Sharaf
{"title":"Susac's syndrome: diagnostic challenges.","authors":"Khuloud Elsabbagh, Mai Elrayes, Amit Herwadkar, Amira Stylianides, David Gosal, Nazar Sharaf","doi":"10.1136/pn-2024-004462","DOIUrl":"https://doi.org/10.1136/pn-2024-004462","url":null,"abstract":"<p><p>A 39-year-old woman presented with headaches, slurred speech, facial weakness and brief altered sensations, together with non-specific visual disturbances, unsteadiness and falls. Despite initial treatment with intravenous methylprednisolone, her condition worsened with cognitive decline, confusion, ataxia and incontinence. We diagnosed Susac's syndrome having excluded other causes. Her management was difficult, taking 4 months to achieve remission with corticosteroids, rituximab, cyclophosphamide and intravenous immunoglobulin (Ig). She continues to be on aspirin, intravenous Ig and mycophenolate mofetil to maintain remission, with cyclophosphamide planned for possible relapses.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366123","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":"New-onset prolonged psychosis from non-convulsive status epilepticus.","authors":"Tiago Jesus, Ana Rita Peralta, Mafalda Moreira, Cândida Barroso, Vânia Almeida","doi":"10.1136/pn-2024-004406","DOIUrl":"https://doi.org/10.1136/pn-2024-004406","url":null,"abstract":"<p><p>The most common ictal psychiatric symptom is fear, followed by ictal depression, and least commonly ictal psychosis. A 44-year-old man with poststroke focal epilepsy developed new-onset behavioural change, disorientation, hallucinations and delusions, persisting for several months before medical evaluation. He was agitated, disorientated, with impaired memory and disorganised thinking, but had no minor epileptic motor signs. His EEG showed electroclinical status epilepticus. His psychotic symptoms persisted despite seizure control and required antipsychotic treatment. Ictal psychosis is rare but clinicians should suspect this in people with epilepsy with new-onset behavioural change. Rarely, it can persist for months, sometimes needing antipsychotic treatment.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123781","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":"The electroencephalogram in the diagnosis and classification of status epilepticus: a practical guide.","authors":"Hannah Ford, Udaya Seneviratne","doi":"10.1136/pn-2024-004336","DOIUrl":"https://doi.org/10.1136/pn-2024-004336","url":null,"abstract":"<p><p>Status epilepticus is a serious neurological emergency requiring swift recognition and treatment. Presentations with prominent motor features are easily recognised but it can be challenging to diagnose those with subtle or no motor features. Electroencephalogram (EEG) remains indispensable in diagnosing, classifying, monitoring and prognosticating of status epilepticus. There are several separate classification systems for seizures, epilepsy and status epilepticus, incorporating clinical features, causes and EEG correlates. This review focuses on using EEG in status epilepticus and provides a practical approach to diagnosis and classification aligning with the current International League Against Epilepsy and American Clinical Neurophysiology Society definitions.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075886","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}
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}
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