Pantothenate kinase-associated neurodegeneration with novel mutations: A case report

ABSTRACT

@#A 32-year-old male with pantothenate kinase-associated neurodegeneration (PKAN) disease who had two heterozygous mutations in the PANK2 gene presented with dystonic storm. The MRI T2WI showed the “eye of the tiger” sign, which combined the abnormal low signal in the globus pallidus due to accumulation of iron and the longitudinal strip of high signal due to gliosis. The patient underwent bilateral globus pallidus internus deep brain stimulation (GPi-DBS) implantation surgery under general anesthesia with marked improvement. Genetic test showed c.1550T>G and c.377G>C heterozygous mutations in the PANK2 gene. To our knowledge, this is the first report of a PKAN patient with the novel mutations in the PANK2 gene.