HALLERVORDEN-SPATZ SYNDROME WITH THE ONSET OF JAW OPENING DYSTONIA

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.

Methods: A male patient presenting with the onset of involuntary jaw opening complaints at the age of 16 has been observed clinically; all laboratory examinations for differential diagnosis were completed and his response to medical treatment were evaluated throughout an 11 year period. Results: Jaw closing movement worsened within the first year after clinical onset and limb dystonias subsequently appeared in the second year. The patient had inadequate response to all medical treatments, even though a relative response was achieved with Botulinum toxine. Typical billateral pallidal involvement were demonstrated in magnetic resonance imaging (MRI). He has no mutation in PANK2.

Conclusion: Jaw opening dystonia is a dystonia type of heterogeneous etiology with poor response to treatment. Clinical onset with jaw opening dystonia is probable in HSS.