PRACTICAL NEUROLOGY最新文献

Neurologists encounter a range of neurological disorders triggered by head and neck movement, reflecting an array of underlying pathologies and producing diverse symptoms. This article provides a practically orientated review of 14 disorders and how to diagnose and manage them, including common disorders such as benign paroxysmal positional vertigo and uncommon entities such as arterial compression syndromes leading to stroke or syncope, mobile intraventricular masses and medication withdrawal states. The article considers atypical scenarios including unusual manifestations and important mimics and discusses controversial entities, as well as the risk of misattributing symptoms based on incidental imaging abnormalities. Guidelines are referenced where they exist, while in rarer situations, approaches taken in published cases are described, with the acknowledgement that management decisions are at the clinician's discretion.

A 56-year-old man reported 2 years of slowly progressive exertional fatigue, presyncope, paraesthesia, generalised weakness and nocturnal bowel frequency. He had an abnormal Valsalva ratio and significant postural hypotension. Serum N-terminal pro-B-type natriuretic peptide and troponin T were elevated. Transthoracic echocardiogram identified thickening of the biventricular walls, interatrial septum and atrioventricular valve leaflets. Global longitudinal strain was reduced with relative apical sparing, suspicious for cardiac amyloidosis. Technetium-99m and 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy supported a diagnosis of transthyretin amyloidosis (ATTR). However, urinary Bence Jones protein (kappa) was identified despite a normal kappa/lambda light chain ratio and no serum paraprotein. Bone marrow and buccal biopsy provided histological confirmation of amyloid. The bone marrow had no evidence of plasma cell dyscrasia but positive TTR immunohistochemistry. The patient had a T60A genetic mutation for hereditary ATTR. Overlapping cardiac and autonomic symptoms prompt an amyloid workup, which then must distinguish AL amyloid from ATTR pathology.

A man in his mid-20s developed three episodes of right facial weakness over 5 months. He had a history of B-cell acute lymphoblastic leukaemia (ALL) in remission following allogenic stem cell transplantation. MR scan of brain during the second presentation showed facial nerve enhancement; cerebrospinal fluid (CSF) cytology and flow cytometry were negative. Re-assessment at the third presentation identified CSF B-lymphoblasts, and he was subsequently treated for central nervous system relapse of leukaemia. This case highlights an infrequent presenting symptom of ALL relapse and a rare cause of recurrent facial nerve palsy.

A 54-year-old man with treated HIV developed a subacute deterioration of speech, mobility and cognition. Cerebrospinal fluid (CSF) analysis showed a raised protein and a discordant CSF HIV RNA paired with plasma HIV RNA, confirming the diagnosis of CSF HIV RNA escape syndrome. It is important to consider this diagnosis in people with treated HIV who develop new neurological symptoms.

Stroke is predominantly a condition of older age. So, it seems sensible that specialists working in stroke services should understand the primary clinical syndrome of ageing-frailty. Recent studies have highlighted the prevalence of frailty in stroke and its associated poor outcomes, yet frailty does not feature prominently in stroke research, practice or policy. Frailty-informed stroke care may differ from the interventional management that dominates contemporary practice. However, this is not therapeutic nihilism. A person-centred approach ensures that every care decision is appropriate and based on a shared understanding of the person's goals and likely prognosis. We present a primer on frailty in stroke, describing definition(s), epidemiology and prognostic implications. We discuss the challenges surrounding assessment and management of frailty in stroke units and offer practical guidance suitable for the stroke clinician.