Neuropediatrics 2015; 46 - PS01-39
DOI: 10.1055/s-0035-1550706

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

C. Döring 1, C. Reihle 1, M. Schroth 1, H. Wörle 1, K. Marquard 1, T. von Kalle 2, A. Rolfs 3, C. Klein 3, M. Blankenburg 1
  • 1Klinik für pädiatrische Neurologie Olgahospital, Stuttgart, Germany
  • 2Radiologisches Institut Olgahospital, Stuttgart, Germany
  • 3Centogene AG, Rostock, Germany

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.