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DOI: 10.1055/s-0040-1713853
Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings
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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 disorderAuthors' 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.
Publication History
Received: 26 February 2020
Accepted: 22 May 2020
Article published online:
23 July 2020
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