Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Autor: Avelino MA; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: marcelavelino@yahoo.com.br., Fusão EF; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Pedroso JL; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Arita JH; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Ribeiro RT; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Pinho RS; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Tuschl K; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK., Barsottini OG; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil., Masruha MR; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
Jazyk: angličtina
Zdroj: Journal of the neurological sciences [J Neurol Sci] 2014 Jun 15; Vol. 341 (1-2), pp. 150-2. Date of Electronic Publication: 2014 Apr 04.
DOI: 10.1016/j.jns.2014.03.057
Abstrakt: Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. This letter highlights the neurological manifestations and neuroimaging features of inherited manganism (IMn), an unusual and treatable inborn error of Mn homeostasis. Early-onset dystonia with "cock-walk" gait and hyperintense signal in basal ganglia, associated to polycythemia, chronic liver disease and hypermanganesemia, promptly suggest IMn, and a genetic evaluation should be performed.
(Copyright © 2014 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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