Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia
| Autor: | Spoorthi Jagadish, Lillian Howard, Sreenath Thati Ganganna |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Neurophysiology and neuropsychology
Pathology medicine.medical_specialty CBC complete blood count Mn Manganese ALT alanine transaminase MCH mean corpuscular hemoglobin Case Report MCHC mean corpuscular hemoglobin concentration Polycythemia Gene mutation SLC30A10 gene mutation Compound heterozygosity Chronic liver disease MCV mean corpuscular volume RDW red cell distribution width EEG electroencephalogram Behavioral Neuroscience AST aspartate transaminase Seizures Basal ganglia Medicine RC346-429 Dystonia business.industry Specific mutation QP351-495 TIBC total iron binding capacity medicine.disease Hyperintensity ADHD attention deficit hyperactivity disorder Neurology Hypermanganesemia T1 hyperintensity Neurology (clinical) Neurology. Diseases of the nervous system Presentation (obstetrics) business MRI magnetic resonance imaging |
| Zdroj: | Epilepsy & Behavior Reports, Vol 16, Iss, Pp 100505-(2021) Epilepsy & Behavior Reports |
| ISSN: | 2589-9864 |
| Popis: | Highlights • Seizure was the sole neurological symptom of hereditary hypermanganesemia. In this case. • Absence of pyramidal and extrapyramidal signs or liver failure were other outstanding features. • Treatment with chelation therapy led to resolution of seizures and T1 hyperintensity on brain MRI. 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: | OpenAIRE |
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