PRACTICAL NEUROLOGY最新文献

Embolic stroke due to pulmonary vein thrombosis is rare but may be associated with lung and left atrial tumours, pulmonary surgery, atrial fibrillation and radiofrequency ablation. It is very rarely idiopathic. A 23-year-old man developed acute onset of a left partial third nerve palsy and left ataxic hemiparesis. His MR scan of the brain showed an acute infarct in the left midbrain and left thalamus. CT angiogram found no steno-occlusive disease and transthoracic echocardiogram was normal. However, a transoesophageal echocardiogram showed a hyperechoic mass projecting from the right inferior pulmonary vein, confirmed on cardiac MR scan to be a right inferior pulmonary vein thrombus. A cardiac loop recorder did not capture an atrial arrhythmia. CT scan of the chest found no significant abnormality in the pulmonary parenchyma. Investigations for hypercoagulable state were negative. He took dabigatran for 6 months with complete resolution of thrombus.

Small fibre neuropathies (SFNs) are common and can significantly affect patients' lives due to debilitating pain and autonomic symptoms. We explain the tests that neurologists can use to diagnose SFNs and how neurophysiologists perform and interpret them. This review focuses on neurophysiological tests that can be used to investigate SFNs, their sensitivity, specificity and limitations. Some of these tests are available only in specialist centres. However, newer technologies are emerging from scientific research that may make it easier to diagnose these conditions in the future.

We describe a 63-year-old man diagnosed with sporadic Creutzfeldt-Jakob disease (sCJD), specifically sporadic fatal insomnia, confirmed through real-time quaking-induced conversion (RT-QuIC) analysis of cerebrospinal fluid and polysomnography. He presented with rapid cognitive decline, behavioural changes, sleep disturbances and dysautonomic symptoms. Initial MR imaging, electroencephalogram and cerebrospinal fluid analyses were inconclusive, highlighting the difficulty in diagnosing this rare subtype of CJD. Clinical evaluation is fundamental in defining the diagnosis of sCJD. When clinical suspicion is strong, the diagnostic work-up should be continued. In this case, the combination of comprehensive clinical evaluations and advanced diagnostic tools, including RT-QuIC and polysomnography, proved essential in making a definitive diagnosis.

Immune checkpoint inhibition unleashes the power of the immune system against tumour cells. Immune checkpoint inhibitors (ICIs) block the inhibitory effects of cytotoxic T-lymphocyte associated protein 4 (CTLA-4), programmed death protein 1 (PD-1), programmed death ligand 1 (PD-L1) and lymphocyte activation gene 3 (LAG-3) molecules on T-cells, and so enhance physiological cytotoxic effects. ICIs can significantly improve survival from cancers, including those previously associated with poor treatment response, such as metastatic melanoma. However, on-target off-tumour effects of ICIs result in immune-related adverse events. These toxicities are common and require new multidisciplinary expertise to manage. ICI neurotoxicity is relatively rare but ominous due to its severity, heterogenous manifestations and potential for long-term disability. Neurotoxic syndromes are novel and often present precipitously. Here, we describe ICI mechanisms of action, their impact on cancer outcomes and their frequency of immune-related adverse events. We focus particularly on neurotoxicity. We discuss the current appreciation of neurotoxic syndromes, management strategies and outcomes based on clinical expertise and consensus, multi-specialty guidance. The use of immunotherapy is expanding exponentially across multiple cancer types and so too will our approach to these cases.