PRACTICAL NEUROLOGY最新文献

Cystinosis is a lysosomal storage disorder usually presenting with renal disease in infancy. As soon as the diagnosis is made, cysteamine (a cystine-depleting medication), is started, significantly improving life expectancy. We describe a young woman taking lifelong cysteamine for nephropathic cystinosis, who became acutely encephalopathic with a spastic tetraparesis secondary to cysteamine toxicity, which was potentially worsened by copper deficiency. On replacing copper and reducing the dose of cysteamine, she made a full neurological recovery. We discuss the case, and review cystinosis and what is known about cysteamine toxicity.

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.