Chagas’ disease reactivation leading to monophasic acute or subacute meningoencephalitis or space-occupying lesions is a well-described AIDS-defining condition in Latin America. We report a 59-year-old man native from the Northeast region of Brazil, with a second episode of subacute chagasic meningomyelitis. He had long-term multidrug-resistant HIV and had abandoned combined antiretroviral therapy

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by mutations in genes that encode proteins essential for neuromuscular transmission.1 2 These are distinct from the autoimmune conditions myasthenia gravis and Lambert–Eaton myasthenic syndrome, which are associated with pathogenic autoantibodies. To date, over 35 genes have been implicated.3 4 The advent of next-generation

People with Charcot-Marie-Tooth (CMT) disease often undergo foot and ankle surgery, as foot deformities are common and cause a degree of functional limitations impairing quality of life. Surgical approaches are variable and there are no evidence-based guidelines. A multidisciplinary approach involving neurology, physical therapy and orthopaedic surgery is ideal to provide guidance on when to refer

Internal carotid artery atherosclerosis is a major risk factor for stroke, accounting for 15–20% of ischaemic strokes. Revascularisation procedures—either carotid endarterectomy or carotid artery stenting—can reduce the risk of stroke for those with significant (>50%) luminal stenosis but particularly for those with more severe (70–99%) stenosis. However, advances in medical pharmacotherapy have implications

A 30-year-old woman had binocular vertical diplopia for 1 year, which worsened when looking to the left and looking up. There was no pain, and no history of ocular surgery, trauma, sinusitis or other systemic illnesses. On examination, her head was tilted to the left and her face was directed towards the right. She had mild hypotropia of the right eye in the primary position, marked restriction in

A man in his mid-50s was admitted to hospital after falling and fracturing his L2 and L4 vertebrae. He had a history of intestinal occlusion 20 years before that had resolved with conservative treatment in his country of origin, Peru. CT scan of head, abdomen and pelvis were normal. While hospitalised and awaiting vertebroplasty, he developed mild confusion, vomiting and constipation, initially attributed

In patients with ischaemic stroke, a carotid free-floating thrombus (CFFT) raises diagnostic and therapeutic challenges. We describe two women, each taking tamoxifen for invasive non-metastatic breast cancer, who developed large-vessel occlusion ischaemic strokes. The first had a CFFT 24 hours after receiving intravenous thrombolysis and mechanical thrombectomy; the thrombus completely resolved after

The human experience will always be integral to our clinical practice. Dr Arani Nitkunan, consultant in neurology, eloquently describes the impact that her elderly aunt, Sinnamma, had on her approach to patient care.1 As a consultant in palliative medicine, I have always believed that the provision of palliative care, in the form of symptom control or comfort measures, should run alongside any disease-modifying

Glucocorticoids are commonly used for neurological disorders, but they can have significant adverse effects, including adrenal insufficiency, hyperglycaemia, osteoporosis and increased infection risk. Long-term use of corticosteroids requires the prescriber to plan risk mitigation, including monitoring and often coprescribing. This article highlights the potential risks of corticosteroid prescribing

Whole-genome sequencing (WGS) has recently become the first-line genetic investigation for many suspected genetic neurological disorders. While its diagnostic capabilities are innumerable, as with any test, it has its limitations. Clinicians should be aware of where WGS is extremely reliable (detecting single-nucleotide variants), where its reliability is much improved (detecting copy number variants

Folate is a naturally occurring essential vitamin (vitamin B9) found in fruit, green leafy vegetables, grains and legumes.1 It is important in DNA and RNA synthesis and acts as an enzyme cofactor in the assembly of nucleic acids and amnio acids.1 Folic acid refers to a synthetic form, which is converted to folate following its consumption.1 Sufficient folate levels can only be achieved from satisfactory

The Gloucester Book Club met to discuss ‘The Elements of Eloquence’ by Mark Forsyth, bringing together familiar faces1 with some new joiners who knew2 little of what lay ahead. The book defines and describes dozens of rhetorical devices.3 It covers, in 39 chapters, techniques ranging from anaphora to zeugma, each illustrated by Forsyth using a vast4 array of diverse examples, from Dickens to Die Hard

A 27-year-old man, receiving his 27th dose of natalizumab monotherapy for multiple sclerosis (MS), tested positive for the anti-JCV (John Cunningham virus) antibody with a low index (0.23). Five days after his 30th dose, he developed horizontal diplopia. An MR scan of the brain identified a tumefactive lesion in the right middle cerebellar peduncle, with no enhancement, and was interpreted as an MS

Optokinetic nystagmus (OKN) is a reflexive eye movement in response to movement of the viewer’s visual environment that consists of a slow phase eye movement in the direction of the stimulus followed by a quick phase in the opposite direction. When tested at the bedside, the slow phases represent smooth pursuit, while the quick phases represent saccades. Normally, OKN is conjugate and symmetric (horizontally

How is any neurological disease defined? Detailed medical case reports are accessible in publications going back at least 200 years. Pre-eminent figures of the 19th century, such as Gowers and Charcot (to name only two among many across the globe), were great observers and painstaking taxonomists. It is testament to the detail of many of the descriptions from this period, including exquisite drawings

The decision by the UK Medicines and Health Care products Regulatory Agency (MHRA) to impose severe restrictions on the prescribing of valproate for men under 55 years1 2 seems to be unwise, based on tenuous scientific underpinnings, and potentially dangerous for boys and men with epilepsy. In the UK, from January 2024, ‘valproate must not be started in new patients, male or female, younger than 55

It is said that a successful quiz question, whether in a departmental quiz or hit TV show, is where the answer prompts one of two responses, either ‘Yup, I knew that’ or ‘Gosh, I didn’t know that’. Papers in Practical Neurology aim to elicit somewhat similar reactions, though sometimes they also try to change the way we think about something that we already know. Spontaneous intracranial hypotension

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

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

‘Drop attacks’ encompass both falls and transient loss of consciousness, but the term is not clearly defined. We offer our definition and explore the differential diagnoses. The most common causes are cardiovascular. We discuss clinical and electrographic criteria that suggest underlying arrhythmia or other serious cardiac disorders that require further investigation, and the potential diagnoses that

Two patients presented with side-locked frontal head pain, involving the supraorbital nerve territory, with an associated hypopigmented macule. The clinical progress and nerve biopsy in one indicated leprosy. In endemic regions, supraorbital neuralgia may be caused by leprosy sometimes without other neurocutaneous markers. Data are available in a public, open access repository. Data are available upon

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

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

A 54-year-old man developed altered mental state and generalised tonic-clonic seizures after 1 week of upper respiratory tract symptoms and diarrhoea, having been previously well. His MR scan of brain showed multifocal progressive T2 cortical signal changes. He was diagnosed with new-onset refractory status epilepticus (NORSE), initially treated as being secondary to autoimmune/paraneoplastic limbic

We report two patients with chorea associated with polycythaemia vera, in whom the haematocrit and haemoglobin were within the reference range. Polycythaemia vera is potentially easily treatable and so is important to consider in people developing late-onset chorea. No data are available.

Tubular aggregate myopathies comprise a rare group of disorders with characteristic pathological findings and heterogeneous phenotypes, including myasthenic syndrome. We describe a patient with tubular aggregate myopathy who presented with fatiguable weakness improving with pyridostigmine, respiratory involvement and possible cardiac manifestations. We highlight the utility of muscle biopsy in atypical

A 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc. There were

Erdheim-Chester disease is a rare histiocytic neoplasm with a wide range of clinical manifestations. Due to its rarity and protean characteristics, this condition often presents a diagnostic challenge. A Caucasian woman in her late 60s presented with unsteadiness, dysphagia and dysarthria. She was initially diagnosed with secondary progressive multiple sclerosis but deteriorated over 2 years with a

Dural arteriovenous (AV) fistulas of the craniocervical junction can be challenging to diagnose. We describe a 70-year-old man with subacute progressive myelopathy whose MR scan of cervical spine showed serpiginous dorsal vessels, suggesting a dural AV fistula. However, a detailed diagnostic angiogram was normal, prompting additional work-up and a wider differential, which was non-revealing. His symptoms

A 34-year-old man required intensive care unit admission for recurrent seizures. He had a 1-year history of unexplained psychiatric illness, with depression, catatonia, cognitive decline, psychosis and persecutory delusions, unresponsive to antipsychotics and antidepressants. His MR scan of brain suggested autoimmune encephalitis1 (figures 1–3). Electroencephalogram (figure 4) identified non-convulsive

A 72-year-old man developed acute aphasia and right-sided hemiparesis. Initial non-contrast CT scan of the head showed multiple punctate calcifications along the brain surface in the territory of the left middle cerebral artery, and a calcific dot sign in the left Sylvian fissure (figure 1A,B). CT angiogram showed a high-grade left internal carotid artery stenosis due to calcified heterogenous carotid

A 45-year-old woman developed sudden-onset weakness in all four limbs, legs more than arms, and was admitted on the second day of the illness. Muscle tone was increased in all four limbs, with strength of 3/5 at the hips, knees and ankles, 3/5 at the shoulders and 4+/5 at the elbows and wrists. Tendon reflexes in all four limbs were brisk, and both plantar responses were extensor. Sensation, coordination

We highlight a specific and hitherto poorly characterised phenotype of functional gait impairments: functional freezing of gait. Unique to the presented case is the use of compensation strategies, many of which at first sight might appear to hint towards the presence of freezing of gait typical of Parkinson’s disease or another form of Parkinsonism. Importantly, however, this patient’s compensation

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

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

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.

The South Wales neurology book club recently discussed ‘Histories’ by Sam Guglani, which describes ‘the messy truth of the hospital’ over the period of 1 week. There are chapters given particular dates and different protagonists, ranging from hospital porter to chaplain, junior doctor, consultant oncologist to patients. We considered the range of characters, each with their own narrative, to be a message

As the year progresses at a gallop, we are getting ready for our May annual meeting, this year in Edinburgh, when I will hand over the Honorary Secretary role to Biba Stanton. As advisory groups are a large part of the work of the Hon Sec, I thought in this edition I would focus on their work, and how much they do over the year to improve treatment and services for patients with neurological illness

I suspect most PN readers have long enough memories to remember the BSE crisis in the UK and even John Gummer the MP who was pictured feeding his 4 year-old daughter a hamburger at the height of the panic. Therefore any endemic prion based disorder which may jump species to species (particularly in a post-COVID world) is alarming. Chronic wasting disease (CWD) has a predilection the cervid family:

Barbara JM, Pace A. Amantadine toxicity causing visual hallucinations. Pract Neurol …

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.

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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