Objective: To present the long-term outcomes of deep brain stimulation in two cases of Pantothenate kinase-associated neurodegeneration (PKAN) syndrome.

Background: PKAN syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Globus pallidus internus deep brain stimulation (GPi-DBS) has been carried out in selected cases of PKAN with drug-resistant dystonia, with variable results. Few data are available on the long-term outcomes of this procedure.

Method: Case reports with accompanying video and literature review.

Results: Patient 1: A 9-years-old female, with PKAN, developed generalized dystonia, feeding and speech difficulties. Symptoms progressed over time without favourable response to medical therapy. At 11-years-old, the patient underwent bilateral GPi-DBS surgery. Postoperatively, she regained useful motor function with a marked decrease in the severity of the dystonia. Fourteen years after surgery, she presented with side effects due to capsular stimulation. Brain MRI revealed displacement of the electrodes. The patient's condition gradually returned to her pre-DBS status after device removal. Few months later, new electrodes were implanted with suboptimal clinical benefit, but improved performance of activities of daily living has been maintained up to the present.

Patient 2: A 16-years-old boy with PKAN presented with focal dystonia of the right hand and difficulty in maintaining equilibrium, which made his subject to many episodes of falls. With the passage of time his dystonia also included cervical region, resulting in swallowing and speech difficulties. At 20-years-old, he was submitted to GPi-DBS surgery with significant benefit of dystonic symptoms, despite no improvement of axial symptoms. After 8 years, he is presently able to cope with most daily living activities.

Conclusion: GPi-DBS is a useful treatment for medically refractory dystonia, even when associated with progressive neurodegenerative diseases such as PKAN. As previously reported,

patients with more severe dystonia appeared to derive greater benefit. Adverse effects involving implanted hardware should be systematically questioned in case of clinical worsening.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/long-term-follow-up-of-deep-brain-stimulation-in-pantothenate-kinase-associated-neurodegeneration-syndrome-two-case-reports/