Abstract
A 29-year-old woman presented with 5-year history of gait instability and hearing loss. Medical history disclosed cirrhosis of the liver and polycythemia. Examination showed bradykinesia, facial grimacing, cervical dystonia, and ataxia. Neuroimaging showed hyperintense signal in basal ganglia on T1-weighted images (figure). Blood tests showed 18.5 g/dL of hemoglobin and 1,500 nmol/L of serum manganese (reference <320 nmol/L). Genetic analysis revealed previously described pathogenic1,2 homozygous mutation c.266T>C(p.Leu89Pro) in the SLC30A10 gene.
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