HALLERVORDEN-SPATZ SYNDROME WITH THE ONSET OF JAW OPENING DYSTONIA

Abstract

Objectives: Hallervorden-Spatz syndrome (HSS) (Pantothenate kinase-associated neurodegeneration) is a rare degenerative disease with sporadic onset or autosomal recessive inheritance. Major clinical features include progressive dystonia beginning in the lower limbs, pigmentary retinopathy, spasticity, and cognitive decline. Early-onset childhood type is the most common type and the usual age of onset is approximately 5 years. Late-onset childhood type becomes symptomatic at the ages of 10–18 years and, other than its slower progression, its clinical onset is similar to the classical form. In this case report, a late onset HSS case with jaw opening dystonia is presented and in this aspect, etiologies of jaw opening dystonia, clinical variants of HSS and their features of onset have been evaluated.