Abstract

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disease due to abnormal basal ganglia iron accumulation, has a type of autosomal recessive transmission and is caused by mutations in the gene encoding pantothenate kinase 2 enzyme (PANK2) which is located on chromosome.

Case report: A 30-year-old-male patient is presented, without family history with similar disease. The predominant clinical manifestation was late, sporadic and progressive appearance of a persistent generalized dystonia associated with Parkinsonism.Brain MRI in axial T2 and FLAIR sequences showed marked hypo intensity in both globus pallidus with hyperintensity in their centers (“eye of tiger” sign). Genetic analysis was consistent with the clinical suspicion of PKAN by heterozygous mutation of the gene encoding the PKAN2: Exon 5: c.1453insC p. Ser485GlnfsX1 and Exon 7: c.1709C/T p.Prol570Leu (rs41279408).

Conclusion: We present the first case in our country of late-onset PKAN with molecular diagnosis.

Keywords: Dystonia; PKAN2; Eye of tiger