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Pediatr Radiol. 2006 Aug;36(8):884-6. Epub 2006 Jun 7.

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

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  • 1Department of Neurology, Great Ormond Street Hospital NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.

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.

PMID:
16758184
DOI:
10.1007/s00247-006-0205-3
[PubMed - indexed for MEDLINE]
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