Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment. Herein, long-term follow-up and genetic results of a PKAN case who experienced severe jaw-opening dystonia are presented and discussed.
Keywords: Compound heterozygousity; Jaw-opening dystonia; PANK2; Pantothenate kinase-associated neurodegeneration; “Eye-of-the-tiger”.
Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.