PP12.5 – 2798: DBS-implanted PKAN cases: Two clinical observations

Abstract

Introduction Pantothenate kinase-associated neurodegeneration (PKAN) is caused by the mutation of the pantothenate kinase 2 (PANK2) gene. Medical therapy such as anti-cholinergic agents, benzodiazepines, barbiturates, and baclofen is commonly used for dystonia, but without much effect. We here discuss deep brain stimulation as a promising surgical method for the treatment of dystonia. Purpose We aim to present the responses to deep brain stimulation (DBS) treatment in two patients with PKAN. Method Two PKAN cases (a 10-year-old girl and an 18-year-old boy) were included in this study. They had typical clinical and neuroimaging findings, as well as positive PANK2 mutation. Bilateral DBS electrodes were placed into the internal globus pallidus region of both the patients. Burke-Fahn-Marsden scale were used for clinical evaluation. Results The female patient, who had developed status dystonicus throughout the extremities and her trunk, was refractory to benzodiazepine and curare infusion, but recovered on the tenth day following DBS operation. After one month, the mother was able to easily provide care for her. The child remained stable and did not have any episodes of status dystonicus during the 27-month follow-up. The male patient had had feeding and swallowing problems accompanied by aspiration due to severe oromandibular dystonia, as well as bilateral arm and neck dystonia prominent on the left side. Following the DBS operation, he started to swallow without any difficulty. He was stable during the 12-month follow-up period. Conclusion DBS may increase the quality of life of drug-resistant dystonic patients and may prevent them from being hospitalized in intensive care units. Large case series are needed to thoroughly evaluate the effect of DBS on PKAN patients. Burke-Fahn-Marsden can be used to evaluate the patients, however other scales can be added for the clinical details.