OBJECTIVE AND IMPORTANCE: 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.
CLINICAL PRESENTATION: 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.
INTERVENTION: A deep brain stimulation electrode was placed in the ventral intermediate nucleus of the right thalamus.
CONCLUSION: 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.