Epilepsy & Behavior Reports (Jan 2021)

Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia

  • Spoorthi Jagadish,
  • Lillian Howard,
  • Sreenath Thati Ganganna

Journal volume & issue
Vol. 16
p. 100505

Abstract

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Manganese is an essential element that is ubiquitously present in our diet and water supply. It is a cofactor for several critical physiological processes. Elevated blood levels of Manganese secondary to SLC30A10 gene mutation presents distinctly with dystonia, polycythemia, chronic liver disease and a characteristic high T1 signal in basal ganglia on brain MRI. The primary treatment for this condition is chelation along with iron therapy. We report a previously healthy boy with compound heterozygous SLC30A10 gene mutations who had a unique clinical presentation with prominent seizures, polycythemia, and characteristic T1 hyperintensity in basal ganglia. Seizures have not been previously reported to be associated with this specific mutation.

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