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Case Reports
. 2014 Jun 15;341(1-2):150-2.
doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.

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

Marcela Amaral Avelino  1 , Eduardo Ferracioli Fusão  2 , José Luiz Pedroso  2 , Juliana Harumi Arita  2 , Reinaldo Teixeira Ribeiro  2 , Ricardo Silva Pinho  2 , Karin Tuschl  3 , Orlando G P Barsottini  2 , Marcelo Rodrigues Masruha  2
Affiliations
Case Reports

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

Marcela Amaral Avelino et al. J Neurol Sci. .

Abstract

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.

Keywords: Dystonia; Hypermanganesemia; Manganese; Manganism inherited; Movement disorders.

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