Abstract
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.
Keywords
hypermanganesemia - hypotonia - polycythemia - SCL30A10
