PRACTICAL NEUROLOGY最新文献

Digital tools like smartphone applications and wearable health devices support people to play a greater role in their own care and that of others. Personal health records (PHRs) allow users to store information about their health online, to view records held by healthcare services and to add their own information. PHRs have the potential to help people manage their well-being, improve patient care and provide new ways to offer care. This article describes the benefits that PHRs bring to healthcare, their challenges and the practical steps for establishing a PHR platform to connect neurologists with their patients, based on 4 years of PHR experience in our neurology unit.

Creatine kinase is an intracellular enzyme found abundantly in skeletal muscle, myocardium and brain. It is well known as a biomarker that increases following skeletal muscle damage and doctors instinctively associate it with myopathies. Serum creatine kinase is undoubtedly often raised in many myopathies and the extent of increase may provide a clue to the myopathic culprit. However, in other myopathies, it may be normal or only marginally raised, and rarely it is normal when the underlying pathology suggests that it should be very raised. Creatine kinase can also be raised in neurogenic disorders, and it can help in the investigation of some neurological disorders that are unrelated to neuromuscular disease. Finally, it may be discovered to be mysteriously elevated without a clear clinical correlate. Here, we examine each of these conundrums, beginning with the clinical problem at hand.

Convexity subarachnoid haemorrhage (SAH) has many possible causes. A 76-year-old man presented with back pain, left leg weakness, and hypertension. His brain imaging showed convexity SAH, with additional intraventricular blood and extensive spinal SAH from T3-S2. Following deterioration from a probable further haemorrhage, with development of left foot myoclonus, a spinal digital subtraction angiogram was normal but cerebral angiogram identified a cerebral dural arteriovenous fistula, which was successfully embolised. Convexity SAH has a heterogeneous clinical presentation and dural arteriovenous fistula is a potential cause.

Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in GBE-1 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 GBE-1 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.

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.

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.

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.

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.

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.