Prevalence: < 1.106. Autosomal recessive transmission of a mutation in the SLC30A10 gene, coding for a carrier of manganese in the liver, small intestine and basal ganglia. Onset in childhood. Female predominance. Dystonia of the 4 limbs and face, dysarthria, tremor, abnormalities in the iron metabolism (low ferritin level), cirrhosis. Manganese deposits in the basal ganglia and the cerebellum.

Acquired cases appear later in some patients with cirrhosis or in case of spontaneous or surgical portocaval shunts.

Treatment: chelating agents (EDTA), iron supplements, liver transplantion.

Anesthetic implications:

check liver function: portal hypertension ?

References :

-        Gayraud D.
Manganèse et cerveau: pathologies acquises et nouveatés génétiques.
Neurologies 2015; 18: 338-48.

Updated: December 2018