Manganese Storage Disease as a Rare Cause of Dystonia with Bilateral Changes in Basal Ganglia and Polycythemia

Introduction: We present a rare but treatable differential diagnosis of dystonia with bilateral changes in basal ganglia and polycythemia.

Case Report: A healthy 4-year-old boy of consanguineous parents from Saudi Arabia developed gait disorder with frequent falls, stuttering, and word-finding problems. Neurologically, we found gait disturbance and muscle weakness of the legs with pyramidal tract signs.

Diagnosis: The diagnosis was found by bilateral hyperintensity changes in basal ganglia in T1-weighted images, polycythemia, and hypermanganesemia as a hint for SLC30A10 gene mutation, which was detected by homozygous mutation in exon 1.

Therapeutically, there was a regression of bilateral hyperintensity changes in basal ganglia, polycythemia and hypermanganesemia under therapy with hydroxyurea, aspirin, exchange transfusions, and oral iron supplementation.

Discussion: The SLC30A10 gene encodes a transmembrane transporter responsible for the export of manganese from the cell and is expressed in the brain and liver. Mutations can lead to a manganese storage disease with bilateral hyperintensity changes in basal ganglia, polycythemia, and hypermanganesemia. Therapy is possible with exchange transfusion, hydroxyurea, aspirin, and oral iron supplementation or Chelators intravenous.

Keyword: hypermanganesemia.