Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration

We present a 10-year-old girl of unrelated healthy parents, that presented at the age of 9 with progressive dystonia, spasticity, and dysarthria ([Video 1—Parts 1] and 2). The initial Burke–Fahn–Marsden Dystonia Scale (BFMDS) score was 33/120, and the Dystonia Disability Scale (DDS) score was 14 to 15/30. Brain MRI showed neuroradiological sign of "tiger's eye" ([Video 1—Part 3]). Molecular genetic analysis showed compound pathogenic heterozygote mutation of PANK2 gene: c.1213T > G, p.(Tyr405Asp) and c.1583C > T, p.(Thr528Met), which confirmed neurodegeneration with brain iron accumulation subtype pantothenate kinase-associated neurodegeneration (PKAN).[1] Despite pharmacotherapy with clonazepam, baclofen, and trihexyphenidyl,[2] disease progressed to BFMDS score 48.4/120 and DDS score 14 to 16/30. Deep brain stimulation (DBS) electrodes were implanted in internal parts of both globi pallidi (GPi). Three and 6 months later, the patient had BFMDS score of 27/120 (44% improvement) and DDS score of 11/30 (31% improvement; [Video 1—Parts 4–6]).