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End-of-life care Pract. Neurol. Pub Date : 2024-03-14 Arani Nitkunan
My 96-year-old aunt taught me so much about end-of-life care. As doctors dealing with long-term neurological conditions, our relationships with patients over many years should enable us to be much more involved in helping them make decisions about the ceilings of treatment. No data are available.
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‘A Ray of Darkness’ by Margiad Evans Pract. Neurol. Pub Date : 2024-03-14 Yasmin Zid, Phil E M Smith
Margiad Evans’ ‘A Ray of Darkness’ prompted another lively discussion among members of the Cardiff neurology book club. Evans was born in England—in childhood ironically living adjacent to, and often venturing into the grounds of the Chalfont Centre for Epilepsy—but later took a Welsh name and residence. She developed epilepsy in mid-life from an inoperable brain tumour, and died in 1958, only 2 years
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Kennedy’s disease Pract. Neurol. Pub Date : 2024-03-14 Helen Devine, Matthew Solomons, Luca Zampedri, Michael G Hanna, Carlo Rinaldi, Pietro Fratta, Dipa Jayaseelan
A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and
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Simultaneous Horner’s syndrome with anhidrosis and facial nerve palsy in internal carotid artery dissection Pract. Neurol. Pub Date : 2024-03-12 Tharuka Herath, Tsneem H S Mbydeen, Savindu Alagoda, May Saleh, Leena Naidu, Sunil Wimalaratna
A 54-year-old man developed acute-onset right-sided neck and ear pain, right lower motor neurone facial nerve palsy and right-side Horner’s syndrome following a fall with hyperextension of the neck. He also had right facial anhidrosis. MR scan and MR angiogram of the head and neck identified a right internal carotid artery dissection at the skull base (figure 1). He was treated conservatively with
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Hepatic encephalopathy: a neurologist’s perspective Pract. Neurol. Pub Date : 2024-03-07 Edward Needham, Gwilym Webb
Liver disease is increasingly common, estimated to affect over 25% of the world’s population. Failure of the liver to maintain a normal metabolic milieu leads to impaired brain function (hepatic encephalopathy), and conditions that cause liver disease can themselves predispose to neurological disease. As neurologists’ involvement with the acute take increases, it is important that we are familiar with
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Dopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant Pract. Neurol. Pub Date : 2024-03-07 Míriam Carvalho Soares, Jacy Bezerra Parmera, Marcos Eugênio Ramalho Bezerra, Rubens Gisbert Cury
An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25 mg of levodopa
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Encephalitis associated with anti-mGluR5 antibodies Pract. Neurol. Pub Date : 2024-02-29 Denison Alves Pedrosa, João Henrique Fregadolli Ferreira, Rene Gleizer, Rafael Bernhart Carra, Rachel Marin de Carvalho, Verena Endmayr, Romana Hoftberger, Lívia Almeida Dutra
A 30-year-old woman had 5 days of visual hallucinations, nystagmus, memory impairment and mutism. On examination, she was disorientated with reduced attention span, gaze-evoked nystagmus, paratonia and abnormal frontal reflexes. Cerebrospinal fluid (CSF) showed 80 cells, protein 0.41 g/L and glucose 3.2 mmol/L (plasma glucose 5.0 mmol/L). MR scan of the brain showed involvement of limbic and extra-limbic
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Spinal dural arteriovenous fistula Pract. Neurol. Pub Date : 2024-02-29 Alexander Berry-Noronha, Natasha Ironside, Wayne Collecutt, Ozayr Ameen, Teddy Y Wu
A man in his 70s was initially admitted under the orthopaedic service with subacute lower back pain radiating to his hips. Spinal MR imaging 3 months after symptom onset showed moderate lumbar canal stenosis at L4/5 with subtle central lower spinal cord and conus T2 hyperintensity, which was initially reported to be normal (figure 1). There was no improvement following L4/5 surgical decompression.
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Shrinking lung syndrome mimicking diaphragmatic palsy in systemic lupus erythematosus Pract. Neurol. Pub Date : 2024-02-29 Shivam Mirg, Animesh Das, Awadh Kishor Pandit, M C Sharma, Achal K Srivastava
A 25-year-old woman presented with 1 year of progressive orthopnoea, initially explained as bilateral diaphragmatic paresis caused by seronegative myasthenia gravis. She required assisted ventilation and received pyridostigmine and corticosteroids. She had minimal (particularly proximal) symmetrical tetraparesis with apparent bilateral diaphragmatic weakness, but had normal sensation. Further investigation
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Paroxysmal dysarthria-ataxia syndrome Pract. Neurol. Pub Date : 2024-02-29 Marija Cauchi, Janice Abela, Nicola Dingli, Norbert Vella
Paroxysmal dysarthria ataxia syndrome presents with recurrent, brief, stereotyped events of dysarthria, limb clumsiness, unsteady gait and vertigo or dizziness that can occur in association with lesions in the midbrain. We describe a case of a woman presenting with paroxysmal dysarthria and ataxia secondary to a midbrain lesion, treated successfully with carbamazepine. Data are available in a public
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Fertility treatment for people with epilepsy Pract. Neurol. Pub Date : 2024-02-26 Ginette Moores, Kimberly Liu, Aleksandra Pikula, Esther Bui
Fertility treatment, including assisted reproductive technology (ART), is increasingly used. Sex hormones influence seizure control as well as interacting with antiseizure medications, and so the hormonal manipulation involved in fertility treatments has direct implications for people with epilepsy. Here, we summarise the various fertility treatments and consider their important influences on epilepsy
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Primary neurolymphomatosis diagnosed by spinal nerve root biopsy Pract. Neurol. Pub Date : 2024-02-22 Samantha Louise Saunders, Samantha M Giang, Sangruthai Sriweerawanidchakun, Anna Schutz
Primary neurolymphomatosis is the direct infiltration of lymphomatous neoplastic cells into nerve roots and/or peripheral nerves. A 67-year-old man had a 24-month history of progressive and severe left lower limb neuropathic pain, ipsilateral ankle dorsiflexion weakness and gait disturbance. Gadolinium-enhanced MRI showed thickening and enhancement of the cauda equina, L5, S1 and S2 nerve roots. 18Fluorodeoxyglucose
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New-onset seizure and acute encephalopathy Pract. Neurol. Pub Date : 2024-02-20 Lin-Yuan Zhang, Xia Liu, Yun-Cheng Wu, Guo-Dong Wang
A 41-year-old man presented in May 2023 with a new-onset episode of generalised seizure and postictal confusion. He became restless and irritable at the emergency department, with nausea and vomiting. Over the previous 10 days, he had developed a fever and for 5 days had experienced new-onset intermittent headaches and fatigue. He had a history of hypertension but was otherwise well. On examination
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Neurological manifestations in malignant melanoma Pract. Neurol. Pub Date : 2024-02-20 H M M T B Herath, Nadiene G Lutchman, May Saleh, Leena Naidu, Shyama Balasuriya Alagoda, Stefen Brady, Sunil Wimalaratna
A 72-year-old woman had 1 week of diplopia, bilateral ptosis, dysphagia, myalgia and limb weakness, and 3 days of progressively worsening shortness of breath. Six months before, she had undergone local resection for stage 3 malignant melanoma, with clear surgical margins. She subsequently started pembrolizumab immunotherapy and had completed the second dose 1 week before this presentation. On examination
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An unusual cause of headache Pract. Neurol. Pub Date : 2024-02-16 Anja Guldemond, Angela Yan, Anomali Vidanagamage, Sahil Chhabda, Arani Nitkunan
A 57-year-old British Sri Lankan woman had a 10-week history of intermittent right-sided posterior headache and persistent fatigue. The headache had started behind the ear when on holiday in Sri Lanka and had migrated to the back of the head. There was an associated bilateral pressure-like sensation, worse in the morning and when bending forward. It occurred 3–4 times a day, lasting 10–15 min. She
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Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy Pract. Neurol. Pub Date : 2024-02-13 Yael Finezilber, Charlotte Massey, Jessica A Radley, Elaine Murphy
Arginine:glycine amidinotransferase (AGAT) deficiency is an ultrarare disorder of creatine metabolism, presenting with developmental delay, characteristic biochemical findings and muscle weakness. Most known cases have been identified and treated in early childhood. We describe a 27-year-old woman with learning difficulties and significant myopathy who was diagnosed through genetic investigation in
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Seven-and-a-half syndrome Pract. Neurol. Pub Date : 2024-02-07 Zhihong Xu, Yuying Zhao, Chuanzhu Yan, Kunqian Ji
A 60-year-old man had a 4-day history of sudden onset dizziness and blurred vision. On examination, there was limited right eye adduction, horizontal abducting nystagmus in the left eye and pronounced right-sided peripheral facial palsy (see figure 1 and online supplemental video). MRI of brain showed an acute lacunar infarction in the dorsal tegmentum of the pons (figure 1). An MR angiogram indicated
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Lingual epilepsy due to cortical demyelination involving the frontal operculum Pract. Neurol. Pub Date : 2024-02-05 Musab Eltahir, Tarig Abkur, Hugh Kearney, Claire M Rice
A 52-year-old right-handed woman taking dimethyl fumarate (Tecfidera) as disease-modifying treatment for relapsing-remitting multiple sclerosis (MS), presented with a two-week history of frequent, brief episodes of intermittent tongue twitching lasting up to one minute. There was a prodrome of an ‘electric feeling’ spreading across the hard palate. She could not talk or swallow during the episodes
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Young man with acute flaccid tetraparesis Pract. Neurol. Pub Date : 2024-02-05 Carolina Rodrigues Dal Bo, Fernanda Dalge De Carvalho, Marcela Botelho De Carvalho, Raissa Kitaguchi Sakajiri, Mariana da Cruz Torquato, Lucas Miniello, René de Araújo Gleizer
A 26-year-old Brazilian man, previously well, developed acute-onset flaccid tetraparesis. He had retired to bed at 11 p.m. without neurological symptoms and had awoken at midnight with weakness in all four limbs and unable to walk. He took no medications, drugs (including nitrous oxide) or alcohol and had no history of intense physical exertion, fever, recent vaccination, recent trauma and loss of
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I told you I was ill Pract. Neurol. Pub Date : 2024-01-30 John Kelly, Martin Maurice O'Donnell, Sarah Wrigley, Áine Merwick, Stela Lefter
In August 2017, after receiving a phone call from my sister that my father was expected to die within days, I made an unexpected journey from my home in Ireland to Melbourne, Australia, to be with him. A long and daunting trip, on arrival, given my jetlag, I was put on the nightshift for his vigil. Partly instructed by his palliative care doctors, and partly by my father as he tapped on his cannula
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Postexercise reflex facilitation in Lambert-Eaton myasthenic syndrome Pract. Neurol. Pub Date : 2024-01-30 Mervyn Poh, Yeo Chong Ming, Patricia Cheong Yanni, Gee Jin Ng, Yong Howe Ho, Kalpana Prasad, Umapathi Thirugnanam
A 62-year-old woman had 6 months of proximal weakness, fatigue and occasional diplopia, symptoms normally suggesting myasthenia gravis or inflammatory myopathy. Postexercise reflex facilitation is a bedside clinical sign that points to a diagnosis of the rarer alternative, Lambert-Eaton myasthenic syndrome (LEMS). We confirmed this diagnosis using electrodiagnostic short exercise testing and serum
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Chorea-acanthocytosis Pract. Neurol. Pub Date : 2024-01-30 Sana Rashid, Naveed Malek, Magdalini Krommyda
A middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history. MR scan of brain showed bilateral caudate atrophy. Nerve conduction studies showed a predominantly sensory peripheral neuropathy. Serum creatine kinase was slightly elevated
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Strachan’s syndrome and riboflavin deficiency Pract. Neurol. Pub Date : 2024-01-30 Caroline Kramarz, James McHugh, Alexander Rossor
Strachan’s syndrome comprises a triad of optic, auditory and painful sensory peripheral neuropathy. It has been recognised since the late 19th century and is presumed to result from nutritional deficiency. Patients present acute or subacutely after a period of systemic illness, weight loss or, most commonly, dietary restriction, especially veganism, which can cause riboflavin (vitamin B2) and vitamin
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Delayed onset post-traumatic wound botulism Pract. Neurol. Pub Date : 2024-01-30 Mai Elrayes, Sarah Al Bachari, Ronan Macdonagh, Alex Peel, Salman Khurshid, Juiliana Hamzah, Tim Holzmann, Amina Chaouch, Gemma Cummins, David McKee, Anna Richardson, Christopher Kobylecki
A 41-year-old man developed rapidly progressive cranial neuropathies and muscle weakness followed by respiratory failure, requiring ventilation support. On examination, there was marked bilateral ptosis and ophthalmoplegia with bulbar, neck and proximal upper limb weakness. He had a recent open left humeral fracture that eventually required amputation. Despite immunoglobulin therapy, his progressive
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Antibiomania: clarithromycin-induced neurotoxicity mimicking autoimmune limbic encephalitis Pract. Neurol. Pub Date : 2024-01-30 Daniel Whittam, Rachael Matthews, Randa Nimeri, Saifuddin Shaik
We describe a 64-year-old woman with relapsing encephalopathy. She initially presented with 5 days of psychomotor agitation, progressing to mania, psychosis and seizures that mimicked autoimmune limbic encephalitis. During her first hospital admission, extensive investigation failed to establish the underlying cause, and she improved with antiseizure medication alone. After a month at home, she relapsed
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Nerve biopsy in T-cell lymphoma with neurolymphomatosis: where and when Pract. Neurol. Pub Date : 2024-01-25 Menelaos Pipis, Zane Jaunmuktane, Teresa Marafioti, Sebastian Brandner, Elaine C Smith, Shirley D'Sa, Michael P Lunn, Kate Cwynarski, Doreen Fialho, Sachit Shah, Geraint N Fuller, Mary M Reilly
Peripheral T-cell lymphomas are rare heterogeneous haematological malignancies that may also involve peripheral nerves in a very small subset of cases. We report a patient with a diagnostically challenging cutaneous T-cell lymphoma and multifocal mononeuropathies in whom a targeted nerve biopsy identified lymphomatous infiltration of nerves and expedited combination treatment with chemotherapy and
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Mercury poisoning in a bodybuilder Pract. Neurol. Pub Date : 2024-01-22 Marc Edwards, Rob Powell
A 64-year-old man had progressive unsteadiness over several years, with tingling in his feet. He was a longstanding bodybuilding enthusiast. Clinical assessment and neurophysiology confirmed a cerebellar ataxia and axonal peripheral neuropathy. His serum mercury concentration was significantly raised. We diagnosed chronic mercury toxicity secondary to excessive tuna consumption. We advised him to stop
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Editors’ commentary Pract. Neurol. Pub Date : 2024-02-01 Phil E M Smith, Geraint N Fuller
Teaching is a potent stimulus for learning, though it often provides a greater stimulus to the teacher than to the student. In everyday practice there are areas in which we are confident in our knowledge (known knowns), others where we are confident that specific knowledge is as yet unavailable (known unknowns), and we also know there are topics of which we are ignorant (unknown knowns). There are
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Electroencephalography in encephalopathy and encephalitis Pract. Neurol. Pub Date : 2024-02-01 Hollie Morris, Peter W Kaplan, Nick Kane
Electroencephalography (EEG) is a useful adjunct to clinical neurological examination, particularly as it may detect subtle or subclinical disturbance of cerebral function and it allows monitoring of cerebral activity over time. Continuous EEG combined with quantitative analysis and machine learning may help identify changes in real time, before the emergence of clinical signs and response to interventions
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Neurological gait assessment Pract. Neurol. Pub Date : 2024-02-01 Sofia Mermelstein, Pedro Barbosa, Diego Kaski
Gait disorders are a common feature of neurological disease. The gait examination is an essential part of the neurological clinical assessment, providing valuable clues to a myriad of causes. Understanding how to examine gait is not only essential for neurological diagnosis but also for treatment and prognosis. Here, we review aspects of the clinical history and examination of neurological gait to
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Cognitive behavioural therapy for neurologists Pract. Neurol. Pub Date : 2024-02-01 Biba Stanton, Trudie Chalder, Carolina Carvalho
In neurological practice, we take pride in accurate diagnosis and using neuroscience to develop novel disease-modifying therapies, but we sometimes neglect symptom management and the treatment of distress. Most patients with neurological disorders report that their mental health needs are not being met. Of the many forms of psychological therapy, cognitive behavioural therapy (CBT) is the most likely
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Hot brain: practical climate change advice for neurologists Pract. Neurol. Pub Date : 2024-02-01 Sanjay M Sisodiya
‘We are called to be architects of the future, not its victims’—Buckminster Fuller People with chronic neurological conditions may be vulnerable to change and less able to manage its demands: neurological diseases are among the most burdensome. Whether climate change has particular effects on specific neurological diseases or not, the known impaired resilience to change affecting people with neurological
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Fatal cerebral air embolism from atrio-oesophageal fistula following cardiac ablation Pract. Neurol. Pub Date : 2024-02-01 Ryan Yann Shern Keh, Daniel du Plessis, Gillian M Potter, Christopher Kobylecki, Paul Cooper
A young woman with Rogers syndrome (thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness) presented with headache, recurrent supraventricular tachycardia and features of an upper gastrointestinal bleed, 1 month after radiofrequency cardiac ablation for supraventricular tachycardia. She deteriorated rapidly after endoscopy and subsequently died. Brain imaging during
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Adult-onset Kufs disease Pract. Neurol. Pub Date : 2024-02-01 Albert Kelly, John Dunne, Carolyn Orr, Nicholas Lawn
A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity. Developmental history was normal. Examination identified cognitive impairment
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Leigh syndrome: an adult presentation of a paediatric disease Pract. Neurol. Pub Date : 2024-02-01 Taylor Watson-Fargie, Victoria Marshall, Natasha E Fullerton, Veronica Leach, Daniela Pilz, Charlotte V Y Hemingbrough, Sila Hopton, Robert W Taylor, Yi S Ng, Andrew Schaefer, Gráinne S Gorman, Maria Elena Farrugia
A previously healthy 27-year-old man was admitted to the acute neurology ward with events involving his face, throat and upper limb, which video telemetry later confirmed were refractory focal seizures. He also had progressive pyramidal features, dysarthria and ataxia. MR scans of the brain identified progressive bilateral basal ganglia abnormalities, consistent with Leigh syndrome. However, extensive
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Posterior semicircular canal cupulolithiasis during acute pontomedullary demyelination Pract. Neurol. Pub Date : 2024-02-01 Sara Matos, Ana Inês Martins, André Jorge, Maria do Carmo Macário, Daniela Pereira, Michael Strupp, João Lemos
Positional vertigo poses a diagnostic challenge in people with multiple sclerosis (MS). The characteristics of positional nystagmus and its response to repositioning manoeuvres are usually sufficient to diagnose benign paroxysmal positional vertigo (BPPV). However, certain BPPV variants respond poorly to repositioning manoeuvres and their nystagmus pattern can resemble that of central positional vertigo
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Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay Pract. Neurol. Pub Date : 2024-02-01 Fahmida Amin Chowdhury, Elisaveta Sokolov, Jessica Anderson, Dragana J Josifova, Lina Nashef
A 25-year-old woman with childhood-onset refractory epilepsy and developmental delay experienced a gradually progressive marked deterioration in mobility and seizure control, with language regression. Investigation identified a homozygous deletion within the contactin-associated protein-like 2 gene ( CNTNAP2 ), underlying her early presentation, but also cerebral folate deficiency that most likely
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Non-convulsive status epilepticus associated with Whipple’s disease Pract. Neurol. Pub Date : 2024-02-01 Eva Diab, Mickael Aubignat, Ruxandra Sarba, Sandrine Wannepain, Olivier Godefroy, Ines Masmoudi
A 69-year-old woman developed non-convulsive status epilepticus during inpatient investigation for abdominal pain. Initial detailed investigations did not identify the cause of seizures, but a jejunal biopsy and PCR testing in various fluids led to the diagnosis of Whipple’s disease with neurological involvement. The seizures were controlled but she subsequently had moderate cognitive impairment. Whipple’s
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Locked in from fulminant GBS after lumbar spine surgery Pract. Neurol. Pub Date : 2024-02-01 Reece M Hass, Eelco F M Wijdicks
Guillain-Barré syndrome (GBS) describes a neurological syndrome characterised by acute, areflexic paralysis, often preceded by an immune stimulating event such as infection or surgery. Spinal surgery as an inciting event is very uncommon with few reported cases. When paraparesis develops in close proximity of surgery, surgical complications should be considered, but if an asymptomatic clinical interval
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Pompe disease misdiagnosed as polymyositis Pract. Neurol. Pub Date : 2024-02-01 Antonio Edvan Camelo-Filho, Manoel Ricardo Alves Martins, Jorge Luiz de Brito de Souza, Rebeca Bessa Maurício, Paulo Ribeiro Nóbrega
Late-onset Pompe disease manifests predominantly in the proximal lower limbs and may be mistaken for an inflammatory myopathy. A 46-year-old man with acromegaly had an 8-year history of progressive weakness. His myopathy was initially attributed to the acromegaly, but severe progression prompted a muscle biopsy, which suggested an inflammatory myopathy. However, his weakness progressed despite treatment
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An unusual mimic of intracranial hypertension Pract. Neurol. Pub Date : 2024-02-01 Nejla Ghane, Jorge C Kattah, Brady Mannett, Sang H Hong
A 60-year-old man had a 2-week history of daily recurrent episodes of transient, painless vision loss, each lasting 3–5 s. He had attended ophthalmology for years because of intermittent diplopia, and a history of type 1 diabetes mellitus, primary open angle glaucoma, bilateral cataract surgery and Graves’ disease with subsequent hypothyroidism. In April 2021, he developed vision loss described as
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Neurological presentation of profound hypothyroidism Pract. Neurol. Pub Date : 2024-02-01 Christopher Paisey, Gurjit Chohan
A 59-year-old man developed worsening mobility over 3 days, described as ‘weakness and swelling’. His mobility had declined over 5 years, starting with ‘unsteadiness’. On admission, he could not stand, whereas a week before he had walked using two walking poles. He had not fallen. There was a 2-year history of hearing loss and of general slowness, and 6 months of a change in voice quality. On examination
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Calvarial disease in secondary syphilis presenting as headache Pract. Neurol. Pub Date : 2024-02-01 Jack Garnham, Gemma Dawe, Margherita Bracchi, Nicholas Davies
An adult man with well-controlled HIV (taking emtricitabine/tenofovir disoproxil fumarate and raltegravir) presented with 1–2 months of gradual-onset generalised headache, preceded by a diffuse symmetrical rash. He was afebrile and there were no abnormal neurological examination findings. A CT scan of the head showed multiple lytic calvarial lesions, with destruction of the inner and outer tables and
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Progressive multifocal leukoencephalopathy with hypointense halo on MRI Pract. Neurol. Pub Date : 2024-02-01 Vinícius Lopes Braga, Filipe Pereira Sarmento, Pedro Fraiman, Denis Bernardi Bichuetti, Henrique Ballalai Ferraz, Enedina Maria Lobato de Oliveira
A 68-year-old woman presented with 3 weeks of progressive left-sided weakness. She had a history of Sjögren’s syndrome, complicated by mononeuritis multiplex and arteritic anterior ischaemic optic neuropathy, and had taken azathioprine for 14 months. On examination, she was disorientated, inattentive, with a left hemiparesis and extensor left plantar response. MR scan of brain showed asymmetrical bilateral
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MRI changes in chronic crystal methamphetamine abuse Pract. Neurol. Pub Date : 2024-02-01 HMMTB Herath, Nadiene G Lutchman, Mark Jeffries, May Saleh, Leena Naidu, Sunil Wimalaratna
A 44-year-old man presented with a 1-year history of progressively poor balance and recurrent falls. On examination, he had a cerebellar syndrome with nystagmus, dysarthria, truncal and limb ataxia, dysmetria, and bilateral intention tremor. Limb strength and sensory examination were normal, with no pyramidal or extrapyramidal signs. His cognitive functions were normal (Montreal Cognitive Assessment
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Primary position upbeat nystagmus in thiamine deficiency Pract. Neurol. Pub Date : 2024-02-01 Denison Alves Pedrosa, René de Araújo Gleizer, Raphaela Coelho Veloso Gomes, José Marcos Vieira de Albuquerque Filho, Breno Assunção Matos, Rafaela Almeida Alquéres
A 34-year-old woman presented to the emergency department with symptoms of encephalopathy, characterized by visual hallucinations, gait disturbance, and oscillopsia. She had a previous diagnosis of schizophrenia and a 3-month history of severely restricted food intake and self-induced vomiting, but no known alcohol abuse or use of tobacco or recreational drugs. On examination, she was disorientated
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Empire of pain by Patrick Radden Keefe Pract. Neurol. Pub Date : 2024-02-01 Al-Wakkass Mahmood, Tom A T Hughes
Patrick Radden Keefe is an investigative journalist with a reputation for exposing the bad guys, particularly those who are adept at laundering their reputations. This book chronicles the life of the Sackler family, particularly the eldest brother Arthur who was clearly very talented and entrepreneurial from a young age. Thank (or blame) him for any drug lunches you have enjoyed—remembered fondly as
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Carphology Pract. Neurol. Pub Date : 2024-02-01 A Fo Ben
Three cheers for neuroscience, as other ‘non brain’ disorders need to rely upon our boffins to address their major unmet needs. Step forward fezolinetant, described breathlessly as ‘game-changing’ ‘transformative’ and as a ‘completely blockbuster drug’ in the press - not by the journalists, but by quoted experts. For a mere £5160 per annum, the CNS active drug blocks a protein called neurokinin-3 that
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ABN news Pract. Neurol. Pub Date : 2024-02-01 Maya McCourt, Lucy Kinton
Firstly Happy New Year from the ABN! That may feel somewhat belated but this is the first edition of PN to go out since then. Hopefully all those new year resolutions are still holding firm. In the middle of January, we welcomed our new executive director, Emily Linnemann, to lead the ABN office team. She will be ably guided in getting to know the organisation by the hugely competent staff team who
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Clinical Lectures on Diseases of the Nervous System (1895) by Sir William Gowers Pract. Neurol. Pub Date : 2024-01-19 Kimberley Rose Monks
The Gloucester Neurology book club gathered in a large gothic living room next to a crackling fire one October evening to discuss Clinical Lectures on Diseases of the Nervous System (1895 ) by Sir William Gowers. The book is a transcription of Gowers’ most important lectures, delivered at the National Hospital for the Paralysed and Epileptic in London. Each lecture focusses on a particular neurological
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Diffuse and acute pain syndrome in a 60-year-old woman Pract. Neurol. Pub Date : 2024-01-19 Thomas Baumgartner, Marie Théaudin, Valentin Loser
A 60-year-old woman, born in Sri Lanka and with long-standing diabetes, developed subacute onset pain. The pain had started in the left lower leg, but within a few weeks extended to all four limbs, thorax and abdomen, though sparing the head. She described the pain as ‘like pin and needles’ with burning sensations. It was constant, with fluctuating intensity over day and night, up to 10 out of 10.
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Sexual dysfunction and commonly used drugs in neurology Pract. Neurol. Pub Date : 2024-01-11 Maya Behn, Jane Kielhofner, Jalesh N Panicker, Tamara B Kaplan
Sexual dysfunction is common in men and women with neurological diseases. Medications used in neurology can cause sexual dysfunction independently of the disease process and this may adversely affect patients’ quality of life. This review focuses on medications commonly prescribed to neurological patients that may contribute to altered sexual function, and discusses how they may differ in men and women
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Incongruence in FND: time for retirement Pract. Neurol. Pub Date : 2024-01-11 Jon Stone
The diagnosis of functional neurological disorder (FND) has rested traditionally on two key features: inconsistency and incongruency. Inconsistency usually refers to inconsistency between movement, sensory or cognitive performance in a voluntary versus an ‘automatic’ scenario. This is the principle of Hoover’s sign of functional leg weakness, the tremor entrainment test for functional tremor and a
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Rippling muscles as a diagnostic clue to thymoma Pract. Neurol. Pub Date : 2024-01-09 Arne Hostens, Wietse Wiels, Gert Cypers
A 36-year-old man reported 9 months of stiff muscles, muscle aches and ‘cramps’. He described involuntary muscle movements, without weakness, posturing or tremor. On examination, there were unusual, wave-like muscle contractions on stretching of the leg (video 1) and after percussing the leg muscles (video 2). There was no muscle atrophy or hypertrophy and no bradykinesia. Video 1 Indentation of thigh
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Neurosarcoidosis with chronic cough and Horner’s syndrome Pract. Neurol. Pub Date : 2023-12-30 Emma Callanan, Patricia Mcnamara, Gordon Ingle
A 62-year-old man attended ophthalmology for a simple ptosis repair. He had a chronic cough, a Horner’s syndrome with post-gustatory hyperhidrosis. He was referred to the respiratory and neurology teams. MR scan of his head and neck found evidence of multifocal disease at the skull base and carotid canal, and further tests identified additional deposits in the hilar lymph nodes, heart and sacrum. A
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Ehlers-Danlos syndromes: importance of defining the type Pract. Neurol. Pub Date : 2023-12-30 Fleur S van Dijk, Neeti Ghali, Arvind Chandratheva
Ehlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Hypermobile EDS currently has no identified genetic cause. Most of the rare monogenic EDS types can have neurological features, which are often part of major or minor diagnostic
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Bow Hunter’s syndrome Pract. Neurol. Pub Date : 2023-12-30 Soorya Mukkadayil Sureshkumar, Hassan Qazi, Tony Goddard, Ahamad Hassan
A 59-year-old man developed sudden headache, visual loss and amnesia that resolved within 24 hours. MR scan of brain showed cerebellar, occipital, temporal, and pontine infarcts. Three years before, he had experienced three stereotypical episodes over a 12-month period, with a similar pattern of infarction. An ECG had identified atrial flutter and he had started apixaban. MR cerebral angiogram (A)
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Rituximab leading to an atypical presentation of neuroborreliosis and false negative serology Pract. Neurol. Pub Date : 2023-12-22 Åslaug Rudjord Lorentzen, Kristine Karlsrud Berg, Unn Ljøstad
Two patients, recently treated with the B-cell-depleting monoclonal antibody, rituximab, had 2–3 months of progressive systemic symptoms; comprehensive investigations did not clarify the diagnosis. Transient radicular pain at disease onset had suggested neuroborreliosis, but seronegativity and an atypical clinical course made this unlikely. However, PCR identified Borrelia burgdorferi DNA in cerebrospinal
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Spontaneous intracranial hypotension Pract. Neurol. Pub Date : 2023-12-22 Sanjay Cheema, Dwij Mehta, Ayman Qureshi, Parag Sayal, Salwa Kamourieh, Indran Davagnanam, Manjit Matharu
Spontaneous intracranial hypotension (SIH) is a highly disabling but treatable secondary cause of headache. Recent progress in neuroradiological techniques has catalysed understanding of its pathophysiological basis and clinical diagnosis, and facilitated the development of more effective investigation and treatment methods. A UK-based specialist interest group recently produced the first multidisciplinary
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Pathology of neurodegenerative disease for the general neurologist Pract. Neurol. Pub Date : 2023-12-16 Patrick W Cullinane, Sarah Wrigley, Jacy Bezerra Parmera, Fernanda Valerio, Thomas O Millner, Karen Shaw, Eduardo De Pablo-Fernandez, Thomas T Warner, Zane Jaunmuktane
Neurodegeneration refers to progressive dysfunction or loss of selectively vulnerable neurones from brain and spinal cord regions. Despite important advances in fluid and imaging biomarkers, the definitive diagnosis of most neurodegenerative diseases still relies on neuropathological examination. Not only has careful clinicopathological correlation shaped current clinical diagnostic criteria and informed