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J Pediatr Genet 2021; 10(04): 305-310
DOI: 10.1055/s-0040-1713853
Case Report

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

Senthilvelan Santhakumar
1   Department of Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Jospaul Lukas
1   Department of Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Gopikrishnan Unnikrishnan
2   Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Bejoy Thomas
1   Department of Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Chandrasekharan Kesavadas
1   Department of Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
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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 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.




Publication History

Received: 26 February 2020

Accepted: 22 May 2020

Article published online:
23 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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