Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia

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 an...

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Autores principales:	Spoorthi Jagadish, Lillian Howard, Sreenath Thati Ganganna
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Hypermanganesemia SLC30A10 gene mutation Dystonia Polycythemia T1 hyperintensity Seizures Neurology. Diseases of the nervous system RC346-429 Neurophysiology and neuropsychology QP351-495
Acceso en línea:	https://doaj.org/article/1468a42a35764b1a9ee1596499f7bc8b
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spelling	oai:doaj.org-article:1468a42a35764b1a9ee1596499f7bc8b2021-11-28T04:37:28ZAtypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia2589-986410.1016/j.ebr.2021.100505https://doaj.org/article/1468a42a35764b1a9ee1596499f7bc8b2021-01-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2589986421000794https://doaj.org/toc/2589-9864Manganese 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.Spoorthi JagadishLillian HowardSreenath Thati GangannaElsevierarticleHypermanganesemiaSLC30A10 gene mutationDystoniaPolycythemiaT1 hyperintensitySeizuresNeurology. Diseases of the nervous systemRC346-429Neurophysiology and neuropsychologyQP351-495ENEpilepsy & Behavior Reports, Vol 16, Iss , Pp 100505- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Hypermanganesemia SLC30A10 gene mutation Dystonia Polycythemia T1 hyperintensity Seizures Neurology. Diseases of the nervous system RC346-429 Neurophysiology and neuropsychology QP351-495
spellingShingle	Hypermanganesemia SLC30A10 gene mutation Dystonia Polycythemia T1 hyperintensity Seizures Neurology. Diseases of the nervous system RC346-429 Neurophysiology and neuropsychology QP351-495 Spoorthi Jagadish Lillian Howard Sreenath Thati Ganganna Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
description	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.
format	article
author	Spoorthi Jagadish Lillian Howard Sreenath Thati Ganganna
author_facet	Spoorthi Jagadish Lillian Howard Sreenath Thati Ganganna
author_sort	Spoorthi Jagadish
title	Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
title_short	Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
title_full	Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
title_fullStr	Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
title_full_unstemmed	Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
title_sort	atypical presentation of slc30a10 gene mutation with hypermanganesemia, seizures and polycythemia
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/1468a42a35764b1a9ee1596499f7bc8b
work_keys_str_mv	AT spoorthijagadish atypicalpresentationofslc30a10genemutationwithhypermanganesemiaseizuresandpolycythemia AT lillianhoward atypicalpresentationofslc30a10genemutationwithhypermanganesemiaseizuresandpolycythemia AT sreenaththatiganganna atypicalpresentationofslc30a10genemutationwithhypermanganesemiaseizuresandpolycythemia
_version_	1718408241909596160

Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia

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