Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings

Abstract

Hypermanganesemia with dystonia and polycythemia along with liver cirrhosis is a rare syndromic complex that is associated with a characteristic genetic mutation and a typical appearance in the T1-weighted noncontrast image. In this article, we reported the neuroimaging findings of two siblings affected by this syndrome. There are few reported cases in literature with similar findings. Diagnosing this problem will help in improving the outcomes as the condition is treatable. We reviewed the clinical and imaging findings of this condition and the differential diagnosis related to it.

Keywords

manganese transport disorder - SLC30A10 - hypermanganesemia–polycythemia–dystonia syndrome - HMDPC - treatable manganese accumulation disorder

Authors' Contributions

S.S. contributed with manuscript writing, data collection, and preparation of the initial draft. J.L. performed review of the manuscript and data collection. G.U. contributed with review of the manuscript and data collection. B.T. helped with critical review of the manuscript for final approval and adding appropriate intellectual content. C.K. performed critical review of the manuscript.

Publikationsverlauf

Eingereicht: 26. Februar 2020

Angenommen: 22. Mai 2020

Artikel online veröffentlicht:
23. Juli 2020

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