Teaching NeuroImages: Facial grimacing and sensorineural hearing loss in a woman with cirrhosis of the liver

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 C(p.Leu89Pro) in the SLC30A10 gene.