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

Zolkipli, Zarazuela

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings. [electronic resource] - Pediatric radiology Aug 2006 - 884-6 p. digital

Publication Type: Case Reports; Journal Article

0301-0449

10.1007/s00247-006-0205-3 doi


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