PRACTICAL NEUROLOGY最新文献

Linear scleroderma 'en coup de sabre' is a rare condition characterised by inflammation and fibrosis of the skin and underlying tissues; it rarely presents in adults. The adult-onset form seldom has extracutaneous manifestations, but those that occur are usually neurological. A 43-year-old woman with epilepsy had a scar-like lesion on her forehead. The MR brain scan showed focal cortical atrophy and white matter changes on the same side as the skin lesion. Skin biopsy identified hyaline sclerosis of the reticular dermis consistent with scleroderma. Her clinical condition stabilised on mycophenolate mofetil. Although uncommon in adults, it is important to consider this rare disease in adults with scalp lesions who have epileptic seizures.

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.

Progressive multifocal leukoencephalopathy (PML) is an infectious disease of the central nervous system that is typically severe and classically occurs in the setting of overt immunocompromise. It is caused by the John Cunningham virus (JCV), a ubiquitous polyomavirus that only rarely leads to neurological complications. Prompt diagnosis of PML is essential for patient management, but can be complicated by disease development in individuals who are relatively immunocompetent, the lack of highly specific clinical symptoms, unfamiliarity with recently described neuroimaging signs and the imperfect sensitivity of assays used to detect JCV in cerebrospinal fluid (CSF). We review the supportive clinical features, neuroimaging findings and confirmatory testing for PML and propose an algorithm to facilitate accurate diagnosis in clinical practice.

A 60-year-old woman presented with a 38-month history of progressive tremor and gait impairment. Examination was consistent with a myeloradiculopathy, cerebrospinal fluid (CSF) analysis was inflammatory and imaging showed meningeal and white matter disease. Revisiting the history identified long periods spent gardening in the months before symptom onset with significant tick exposure. Lyme testing was strikingly positive in serum and CSF: a diagnosis of late Lyme neuroborreliosis was confirmed. There was clinical and radiological response to appropriate antimicrobial treatment with ongoing improvement at follow-up. This case highlights the importance of thorough history taking, a stepwise approach to investigating a complex neurological syndrome and the invaluable input of multiple specialties required to manage such cases.

There are many possible causes for acute encephalitis, and systemic causes can be easily overlooked. We report a woman with initial status epilepticus, marked working memory impairment and ataxia, which developed 1 week following the ChAdOx1 SARS-CoV-2 (Astra-Zeneca) vaccination. Although lumbar puncture detected a paraprotein, it was not until she developed the hallmark cutaneous features of scleromyxoedema several months later that we recognised this as the dermato-neuro syndrome. Given the temporal association, the SARS-CoV-2 vaccination was a likely trigger, and the decision whether to give subsequent vaccinations during the heat of the COVID-19 pandemic added a layer of complexity to decision making. We review the literature regarding dermato-neuro syndrome in the setting of SARS-CoV-2 vaccination and explore its unique features.