PRACTICAL NEUROLOGY最新文献

Chorea after cardiac surgery (formerly post-pump chorea) is a common complication in children (estimated prevalence of 0.6%-3%) but is rare in adults; when it does occur, it is often permanent and less responsive to treatment. A 47-year-old woman developed chorea in all limbs following cardiac surgery for a pseudoaneurysm of the anastomosis along with thrombectomy of the prosthetic aortic valve (after Bentall's procedure in the past). MR scan of brain showed bilateral basal ganglia abnormalities, which partially resolved over 3 months. Despite initial treatments, her condition worsened until switching to haloperidol.

This opinion piece discusses the challenges of managing a person with sight-threatening papilloedema due to idiopathic intracranial hypertension (IIH). With no available randomised controlled trials, clinicians often choose a locally available surgical intervention. An increasing number of studies have advocated using dural venous sinus stenting in IIH. Big data studies show that shunts have been the mainstay of surgical treatment for IIH, and recent evidence shows improved outcomes and fewer revision surgeries. There remains genuine equipoise in the choice of intervention between shunting and dural venous stenting in IIH. The IIH Intervention Trial funded by the National Institute of Health Research is underway in the UK, the first randomised control trial to evaluate both of these surgical interventions in people with sight-threatening IIH.

There is widespread concern among former athletes about the link between head injury and dementia. Neurologists are increasingly assessing ex-contact sports athletes with cognitive and behavioural issues following repetitive head impacts and traumatic brain injury. Their assessment and management can be challenging due to the broad differential diagnosis, including psychiatric issues, trauma-related impairment and, in some cases, neurodegeneration. There may be a range of pathologies present after trauma exposure, including Alzheimer's disease and chronic traumatic encephalopathy. Currently, we have only limited understanding of specific clinical phenotypes for distinct types of post-traumatic dementia, nor are there in vivo tests for many of the pathologies. Informed by our experience running a midlife brain health clinic for retired elite contact sport athletes, we describe a practical framework for the workup of athletes with cognitive concerns, highlighting key clinical features, an approach to investigation including neuroimaging and advanced fluid biomarkers, symptomatic management strategies and research directions.

Dravet syndrome is a rare and severe developmental and epileptic encephalopathy, caused by pathogenic variants of SCN1A in 80%-90% of patients. It is a clinical diagnosis typically made in childhood, but many adults who may never have had appropriate genetic testing remain undiagnosed. We present four patients with longstanding drug-resistant epilepsy and intellectual disability where genetic testing led to a diagnosis of Dravet syndrome or another SCN1A-related epilepsy syndrome. These descriptions highlight important and atypical clinical features. There are also challenges including interpreting variants of uncertain significance, and considering the function of the SCN1A variant. It is important to recognise Dravet syndrome in adults, since inappropriate antiseizure medications increase the risk of seizures. As precision medicine and gene therapies advance, it is increasingly important to make an accurate clinical and molecular diagnosis. Neurologists should consider Dravet syndrome in adults with early-onset epilepsy and intellectual disability.

Myelin oligodendrocyte glycoprotein-antibody disease (MOGAD) is an immune-mediated demyelinating disorder, distinct from MS, which typically affects the optic nerve, spinal cord, brain and/or brainstem. Diffuse white matter involvement that resembles a leukodystrophy has been reported only in children. We present a woman aged 29 years with new right optic neuritis on a background of previously unexplained, longstanding, bilateral, reduced visual acuity. MR scan of the brain and orbits showed confluent, bilateral, posterior predominant white matter changes reminiscent of a leukodystrophy, along with bilateral optic atrophy. She was strongly MOG-seropositive. Positron-emission tomography scanning showed enlarged cervical lymph nodes, and biopsy found necrotising granulomata without tuberculosis. She showed a marked clinico-radiological response to corticosteroids, going from legally blind to functioning independently. Most strikingly, the chronically affected left eye improved significantly, 5 years after symptom onset. This expands the phenotypic spectrum of MOGAD as well as therapeutic expectations after a delayed presentation.

Radiologically isolated syndrome (RIS) is the incidental finding of MRI evidence of demyelination suggesting multiple sclerosis in someone with no corresponding clinical signs or symptoms. RIS can be challenging for neurologists to manage. In this article, we discuss its diagnosis and misdiagnosis and how to approach and manage a suspected case, as well as potential therapies. We also discuss how the updated 2024 McDonald criteria have changed the diagnosis and management of some patients with RIS.