Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI

BJR Case Rep. 2015 Jul 7;1(3):20150011. doi: 10.1259/bjrcr.20150011. eCollection 2015.

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a subtype of inherited metabolic disorders. It includes pantothenate kinase-associated neurodegeneration (PKAN), which is a rare autosomal recessive disorder caused by the mutation of pantothenate kinase 2-gene (PANK2). It affects the deep grey matter nuclei causing progressive extrapyramidal motor impairment.1 We present a case of genetically proven PKAN in a child with mosaic trisomy 21 in which T2- hyperintensity of the basal ganglia was seen followed by the classic eye-of-the-tiger sign in a follow-up MRI.

Publication types

  • Case Reports