PRACTICAL NEUROLOGY最新文献

Expert opinion, based on a careful medical history and detailed neurological examination, remains the gold standard to diagnose Parkinson's disease (PD). Neuroimaging is deemed unnecessary in those presenting with a characteristic phenotype. We encountered two patients in whom our expert clinical opinion, namely not to scan, was 'overruled' because structural brain imaging had been performed elsewhere. The MR scans unexpectedly showed an underlying cause for the parkinsonian symptoms, with unequivocal therapeutic implications. Neither patient had any unambiguous non-motor symptoms. Stimulated by these two cases, we present a nuanced view on the possible indications for brain MRI in people with apparently classical motor PD. We propose to count the absence of any unambiguous non-motor symptoms as a double (rather than single) red flag, thus requiring this to be countered by two supportive signs, and suggest lowering the threshold for brain scanning in such patients.

We describe a case of cerebral air embolism in a man with vascular Ehlers-Danlos syndrome. The key learning point is that cerebral air embolism can cause a florid encephalopathy and MR imaging appearance, yet the causative diagnosis may be made only by carefully scrutinising the CT scan, rather than the MRI. This patient was incorrectly diagnosed with posterior reversible encephalopathy syndrome before subsequent closer inspection of the CT scan at presentation disclosed the true diagnosis. Other diagnostic clues were the close temporal proximity to events that might introduce air into the systemic circulation (eg, thoracic procedures) or syndromes that predispose people to cerebral air embolism. The likely cause in this case was a transient bronchovenous fistula associated with vascular Ehlers-Danlos syndrome. Prompt identification of cerebral air embolism allows supportive measures to be started to prevent potentially fatal sequelae.

A 61-year-old man had epilepsy related to chronic alcoholism and occipito-temporal porencephaly. Over a span of 19 years, he had been admitted to our institution 227 times, undergoing 55 CT scans of the head and 11 CT scans of the cervical spine. His blood alcohol concentrations varied between 1.9 g/L and 5.1 g/L. We discuss the challenges of emergency management of patients with alcoholism and seizures and the overuse of radiological examinations.

Brain calcification is often detected incidentally, but basal ganglia calcification has a wide differential diagnosis, including genetic and acquired causes. Primary familial brain calcification (PFBC) (formerly 'Fahr's disease') refers to neurological disorders characterised by bilateral, symmetrical deposition of calcium-hydroxyapatite crystals in the basal ganglia and other encephalic regions, with a presumed genetic basis. Its clinical picture encompasses motor, cognitive and psychiatric manifestations in various combinations. Seven genes have been linked to PFBC since 2012, with either autosomal dominant (SLC20A2, PDGFRB, PDGFB and XPR1) or recessive (MYORG, JAM2 and NAA60) mode of inheritance. Mendelian gene discovery has provided critical insights into the pathogenesis of PFBC. Dyshomeostasis of inorganic phosphate, impaired endothelial functions and disrupted blood-brain barrier integrity has been identified as converging pathomechanisms, which could highlight the targets of potential disease-modifying treatments. We provide a state-of-the-art overview on phenotypic features, diagnosis, aetiopathogenesis and management of PFBC.

This review offers comprehensive insights into the presenting features, terminology, imaging techniques and management strategies associated with uveitis, specifically designed to help neurologists understand this complex condition. We have created a glossary of terms used in uveitis care and ocular imaging to help clarify terminology. We have ordered uveitis subtypes in an intuitive manner, focusing on those that neurologists are more likely to encounter. We have written the article from the perspective of uveitis specialists practising in the UK, while emphasising the global variability in clinical presentations and causes. By offering practical guidance on recognising uveitis features as well as treatment options, we aim for this to be a neurologists' aide mémoire to help manage intraocular inflammation.

Marginalia, or apostils, are defined as notes, comments or other markings made in the margins of a book or document. As a reader who has habitually added markings and comments to such documents over many years, I offer some thoughts on the purposes of marginalia added to neurological texts. I also include some practical recommendations on how readers might construct marginalia. Rather than merely personalising a text, marginalia may have the capacity to foster systematic reading and critical thinking and may facilitate the process of writing.