Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings

Pediatr Radiol. 2006 Aug;36(8):884-6. doi: 10.1007/s00247-006-0205-3. Epub 2006 Jun 7.

Abstract

It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C>A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the globi pallida or substantia nigra on MR imaging.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Dystonia / genetics
  • Dystonia / pathology*
  • Female
  • Globus Pallidus / pathology*
  • Humans
  • Iron / metabolism
  • Magnetic Resonance Imaging*
  • Male
  • Mutation
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Siblings
  • Substantia Nigra / pathology

Substances

  • Iron
  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase