Hallervorden-Spatz Syndrome: Case Report of a Typical Form

Abstract

Hallervorden-Spatz syndrome is a rare neurodegenerative disease, related to mutations in a gene located on chromosome 20p13. Hallervorden-Spatz syndrome is characterized by iron accumulation in the basal ganglia, which leads to variable neurologic manifestations. It is reported the case of a 6 years old male patient, with history of neuro psycho motor development involution noticed since 1 year and 5 months of age and progressive development of dystonia, mostly on upper limbs and neck. Brain Magnetic Resonance Imaging (MRI) revealed bilaterally symmetric signal changes in globus pallidus and in the posterior limb of the internal capsule, findings that suggest neurodegenerative disease with iron accumulation or metabolic disease.