Neuropediatrics 2005; 36(3): 221-222
DOI: 10.1055/s-2005-865714
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

The Eye-of-the-Tiger Sign is not a Reliable Disease Marker for Hallervorden-Spatz Syndrome

F. A. M. Baumeister1 , D. P. Auer2 , K. Hörtnagel3 , P. Freisinger1 , T. Meitinger3 , 4
  • 1Children's Hospital of the Technical University Munich, Munich, Germany
  • 2Max-Planck-Institute of Psychiatry, NMR Study Group, Munich, Germany
  • 3Institute of Human Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
  • 4Institute of Human Genetics, Technical University Munich, Munich, Germany
Further Information

Publication History

Received: November 10, 2004

Accepted after Revision: May 1, 2005

Publication Date:
09 June 2005 (online)

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Abstract

Pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by dystonia, rigidity, and choreoathetosis. Iron deposition in conjunction with destruction of the globus pallidus gives rise to the characteristic eye-of-the-tiger sign in MRI. It has been postulated that pantothenate kinase 2 mutations underlying all cases of classic Hallervorden-Spatz syndrome are always associated with the eye-of-the-tiger sign. Here, we report a patient with classic Hallervorden-Spatz syndrome and a homozygous pantothenate kinase 2 mutation in whom the initially present eye-of-the-tiger sign vanished during the course of the disease. Thus, the alleged one-to-one correlation between the eye-of-the-tiger sign and the presence of pantothenate kinase 2 mutation does not hold true over the course of the disease in PKAN.

References

Priv. Doz. Dr. F. A. M. Baumeister

Kinderklinik und Poliklinik der Technischen Universität München
Kinderklinik Schwabing

Kölner Platz 1

80804 München

Germany

Email: FAM.Baumeister@lrz.uni-muenchen.de