Hallervorden-Spatz disease. Case report

Abstract

Hallervorden-Spatz disease, better known today as pantothenate kinase-associated neurodegeneration, is a rare autosomal recessive disorder characterized by iron deposits in the basal nuclei and predominates in the first two decades of life. Clinically it manifests itself with dysarthria, optic atrophy, tremor, parkinsonism, gait disturbances, extrapyramidal manifestations, intellectual deterioration and dystonia. The diagnosis is made by imaging studies, with nuclear magnetic resonance considered the most appropriate, in which hypointense images are observed at the level of the basal nuclei with central hyperintensity, which is called the “tiger eye” sign, and indicates iron deposits and neuroaxonal degeneration. The present case shows the diagnostic and therapeutic evolution of a child who presented a clinical picture suggestive of a progressive lesion of the central nervous system. After performing imaging studies, the findings were compatible with an iron deposit at the level of the globus pallidus, which led to the modification of the initial diagnosis and the search for an appropriate treatment for a better symptomatic response began.