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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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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.

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Authors and Affiliations

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

    Zarazuela Zolkipli & Robert Surtees

  2. Department of Neuroradiology, Great Ormond Street Hospital NHS Trust, London, UK

    Hisham Dahmoush, Dawn E. Saunders & W. K. Kling Chong

Authors
  1. Zarazuela Zolkipli
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  2. Hisham Dahmoush
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  3. Dawn E. Saunders
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  4. W. K. Kling Chong
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  5. Robert Surtees
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Corresponding author

Correspondence to Robert Surtees.

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Zolkipli, Z., Dahmoush, H., Saunders, D.E. et al. 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 36, 884–886 (2006). https://doi.org/10.1007/s00247-006-0205-3

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  • DOI: https://doi.org/10.1007/s00247-006-0205-3

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