Treatment of phenylketonuria-associated tremor with deep brain stimulation: case report.

Abstract

Phenylketonuria (PKU) is an inborn error of metabolism that causes severe neurological impairment, despite dietary treatment. We present a case of PKU-induced cerebellar tremor treated with deep brain stimulation. There have been no previously reported cases of a patient with a PKU tremor treated with deep brain stimulation. A 36-year-old male patient with PKU presented with signs of cerebellar disease including dysmetria, resting tremor, and intention tremor in the left upper extremity. A deep brain stimulation electrode was placed in the ventral intermediate nucleus of the right thalamus. Immediately after surgery, the patient had nearly complete resolution of intention tremor in the left arm. His resting tremor in the left hand was also greatly improved. The 30-month follow-up examination revealed maintenance of the immediate postoperative improvement.