Journal article
Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
Epilepsy & behavior reports, Vol.16, p.100505
01/01/2021
DOI: 10.1016/j.ebr.2021.100505
PMCID: PMC8633869
PMID: 34877518
Abstract
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. (C) 2021 The Authors. Published by Elsevier Inc.
Details
- Title: Subtitle
- Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
- Creators
- Spoorthi Jagadish - University of IowaLillian Howard - University of IowaSreenath Thati Ganganna - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Epilepsy & behavior reports, Vol.16, p.100505
- DOI
- 10.1016/j.ebr.2021.100505
- PMID
- 34877518
- PMCID
- PMC8633869
- NLM abbreviation
- Epilepsy Behav Rep
- ISSN
- 2589-9864
- eISSN
- 2589-9864
- Publisher
- Elsevier
- Number of pages
- 4
- Language
- English
- Date published
- 01/01/2021
- Academic Unit
- Stead Family Department of Pediatrics; Neurology (Pediatrics)
- Record Identifier
- 9984354041802771
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