Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia
| Autor: | Shamshad Gulab, Youssef Al-Said, Husam R. Kayyali |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Zinc Transporter 8 Chronic liver disease medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Metabolic Diseases medicine Missense mutation Humans Chelation therapy Child Dystonia Mutation Manganese medicine.diagnostic_test business.industry Siblings Brain Magnetic resonance imaging General Medicine medicine.disease Magnetic Resonance Imaging Hypotonia 030104 developmental biology Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Rare disease |
| Zdroj: | Neuropediatrics. 49(1) |
| ISSN: | 1439-1899 |
| Popis: | Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene SLC30A10. We are reporting the clinical features of this rare disorder in two Saudi brothers. The older brother presented with progressive gait difficulties, hypotonia, intermittent dystonia, polycythemia, and characteristic T1-hyperintense lesions on MRI brain. SLC30A10 sequencing identified a novel missense mutation. The younger brother was identified in presymptomatic phase on family screening. Chelation therapy with disodium calcium edetate (ethylenediaminetetraacetic acid, EDTA) led to stabilization of gait, reduction in Mn levels, and resolution of polycythemia. We wish to highlight the atypical neurologic presentation, a novel missense mutation, and beneficial effect of EDTA in this rare disease. |
| Databáze: | OpenAIRE |
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