Pantothenate Kinase Deficiency Related Neurodegeneration (PKAN) – An Ultra Rare Inherited Metabolic Disorder
Keywords:Pantothenate Kinase Deficiency Related Neurodegeneration, Eye of tiger sign, NBIA, Neurodegeneration with brain iron accumulation, PANK, PANK2 Gene
Pantothenate Kinase-related Neurodegeneration (PKAN) is an Autosomal Recessive (AR) inherited disease identified by focal iron accumulation in the basal ganglia. Formerly recognized as Hallervorden-Spatz disease. PKAN is now considered to be one of several diseases that clinically presents with Neurodegeneration due to deposition of iron in brain (NBIA). Here, we describe an eleven-year-old boy identified as typical PKAN.