PRACTICAL NEUROLOGY最新文献

Ischaemic strokes in young adults carry considerable mortality and morbidity; however, their cause is often unknown. A 25-year-old man experienced sudden-onset right homonymous hemianopia after 1 week of gradually worsening left-sided neck pain; imaging confirmed left vertebral artery dissection with associated posterior cerebral circulation infarction. Ten days later, he experienced right-sided neck pain consistent with a right vertebral artery dissection, but with no recent trauma. Genetic testing identified a novel heterozygous variant in SMAD3 (Mothers against decapentaplegic homolog 3), which is associated with Loeys-Dietz syndrome 3. This case highlights the importance of comprehensive diagnostic investigations for young adults with ischaemic stroke, including consideration of genetic testing. Accurately identifying genetic causes of stroke allows improved patient management including familial screening, clinical surveillance and pre-implantation genetic screening.

An elderly woman presented with coma secondary to acute-on-chronic liver failure and was found to have severe hyperammonaemia. MR scan of brain showed extensive bilateral and symmetric cortical and thalamic fluid-attenuated inversion recovery hyperintense signals and diffusion restriction. How should clinicians address the prognosis of such cases? Postmortem findings from this case provide new insights in pathophysiology.

An 88-year-old woman developed persistent unilateral headache followed by bilateral sequential visual loss. She suffered progressive neurological deterioration before her death. This report documents the clinicopathological conference at the Association of British Neurologists Annual Meeting 2024.

Papilloedema is optic disc swelling due to raised intracranial pressure (ICP). Typically, this occurs bilaterally, and visual function is usually relatively preserved unless the disease is moderately severe or chronic. The implications of a new finding of papilloedema are potentially serious; however, overdiagnosis of papilloedema can lead to iatrogenic harm from unnecessary investigation or treatment. It is important to consider the differential diagnosis for swollen optic disc appearances to ensure patients are investigated appropriately. We describe an approach to the clinical assessment of patients with suspected papilloedema, using history, examination and tools available in the eye clinic including perimetry and optical coherence tomography, as well as the pitfalls that may be encountered using these technologies. We also discuss a strategy for subsequent investigation of patients with probable papilloedema to identify causes of raised ICP, while highlighting potential pitfalls in this process.

A 78-year-old woman developed a coarse tremor in her left hand that had persisted for 2 months. 3 years before, she had undergone surgery for lung adenocarcinoma, followed by chemotherapy. On examination, there was a postural and action tremor (3-4 Hz) in the left upper limb, identified as a Holmes tremor, with oculopalatal myoclonus. MR scan of the brain showed bilateral hypertrophic olivary degeneration with hyperintensity of the middle cerebellar peduncles. CT scan of the head showed a calcified lesion in the pontine tegmentum, suggesting disruption of the Guillain-Mollaret triangle, which comprises the dentatorubral, rubro-olivary and olivocerebellar pathways. The underlying cause was a pontine metastasis, evidenced by calcification on CT brain scan. This case highlights the importance of considering underlying malignancy in people with hypertrophic olivary degeneration or related symptoms and emphasises the role of CT brain scanning in identifying metastatic calcification when MR scan findings are inconclusive.