The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration

L. Chiapparini, M. Savoiardo, S. Darrigo, C. Reale, G. Zorzi, F. Zibordi, D. M. Cordelli, E. Franzoni, B. Garavaglia, N. Nardocci

Research output: Contribution to journalArticlepeer-review

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of Thypointensity in the globus pallidus with a small hyperintensity in its medial part, called the eye-of-the-tiger sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the eye-of-the-tiger sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the eye-of-the-tiger sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN.

Original languageEnglish
Pages (from-to)159-162
Number of pages4
JournalNeuropediatrics
Volume42
Issue number4
DOIs
Publication statusPublished - 2011

Keywords

  • brain iron accumulation
  • eye-of-the-tiger sign
  • PKAN

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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