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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Cation Transport Proteins / genetics
  • Child
  • Female
  • Gait Disorders, Neurologic* / complications
  • Gait Disorders, Neurologic* / genetics
  • Gait Disorders, Neurologic* / pathology
  • Humans
  • Manganese Poisoning* / complications
  • Manganese Poisoning* / genetics
  • Manganese Poisoning* / pathology
  • Neuroimaging*
  • Zinc Transporter 8

Substances

  • Cation Transport Proteins
  • SLC30A8 protein, human
  • Zinc Transporter 8