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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.

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  • References

  • 1 Valdés Hernández MdelC, Maconick LC, Tan EM, Wardlaw JM. Identification of mineral deposits in the brain on radiological images: a systematic review. Eur Radiol 2012; 22 (11) 2371-2381
    CrossrefPubMedGoogle Scholar
  • 2 Davis CD, Zech L, Greger JL. Manganese metabolism in rats: an improved methodology for assessing gut endogenous losses. Proc Soc Exp Biol Med 1993; 202 (01) 103-108
    CrossrefPubMedGoogle Scholar
  • 3 Stamelou M, Tuschl K, Chong WK. et al. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord 2012; 27 (10) 1317-1322
    CrossrefPubMedGoogle Scholar
  • 4 Scheiber IF, Wu Y, Morgan SE, Zhao N. The intestinal metal transporter ZIP14 maintains systemic manganese homeostasis. J Biol Chem 2019; 294 (23) 9147-9160
    CrossrefPubMedGoogle Scholar
  • 5 Leyva-Illades D, Chen P, Zogzas CE. et al. SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. J Neurosci 2014; 34 (42) 14079-14095
    CrossrefPubMedGoogle Scholar
  • 6 Taylor CA, Hutchens S, Liu C. et al. SLC30A10 transporter in the digestive system regulates brain manganese under basal conditions while brain SLC30A10 protects against neurotoxicity. J Biol Chem 2019; 294 (06) 1860-1876
    CrossrefPubMedGoogle Scholar
  • 7 Liu C, Hutchens S, Jursa T. et al. Hypothyroidism induced by loss of the manganese efflux transporter SLC30A10 may be explained by reduced thyroxine production. J Biol Chem 2017; 292 (40) 16605-16615
    CrossrefPubMedGoogle Scholar
  • 8 Jenkitkasemwong S, Akinyode A, Paulus E. et al. SLC39A14 deficiency alters manganese homeostasis and excretion resulting in brain manganese accumulation and motor deficits in mice. Proc Natl Acad Sci USA 2018; 115 (08) E1769-E1778
    CrossrefPubMedGoogle Scholar
  • 9 Lin W, Vann DR, Doulias P-T. et al. Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activity. J Clin Invest 2017; 127 (06) 2407-2417
    CrossrefPubMedGoogle Scholar
  • 10 Ye Q, Park JE, Gugnani K, Betharia S, Pino-Figueroa A, Kim J. Influence of iron metabolism on manganese transport and toxicity. Metallomics 2017; 9 (08) 1028-1046
    CrossrefPubMedGoogle Scholar
  • 11 Barber-Zucker S, Uebe R, Davidov G. et al. Disease-homologous mutation in the cation diffusion facilitator protein mamm causes single-domain structural loss and signifies its importance. Sci Rep 2016; 6 (01) 31933
    CrossrefPubMedGoogle Scholar
  • 12 Zaki MS, Issa MY, Elbendary HM. et al. Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: six novel SLC30A10 mutations and further phenotype delineation. Clin Genet 2018; 93 (04) 905-912
    CrossrefPubMedGoogle Scholar
  • 13 Anagianni S, Tuschl K. Genetic disorders of manganese metabolism. Curr Neurol Neurosci Rep 2019; 19 (06) 33
    CrossrefPubMedGoogle Scholar
  • 14 Mukhtiar K, Ibrahim S, Tuschl K, Mills P. Hypermanganesemia with dystonia, polycythemia and cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. Brain Dev 2016; 38 (09) 862-865
    CrossrefPubMedGoogle Scholar