| Autor: |
Spoorthi Jagadish, Lillian Howard, Sreenath Thati Ganganna |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100505- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2589-9864 |
| DOI: |
10.1016/j.ebr.2021.100505 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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