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The 'Eye-of-the-Tiger' Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration

The 'Eye-of-the-Tiger' Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration

Authors :
Duccio Maria Cordelli
F. Zibordi
M Savoiardo
Luisa Chiapparini
Nardo Nardocci
Stefano D'Arrigo
Barbara Garavaglia
Giovanna Zorzi
C Reale
Emilio Franzoni
Chiapparini L
Savoiardo M
D'Arrigo S
Reale C
Zorzi G
Zibordi F
Cordelli DM
Franzoni E
Garavaglia B
Nardocci N
Source :
Neuropediatrics. 42:159-162
Publication Year :
2011
Publisher :
Georg Thieme Verlag KG, 2011.

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2 hypointensity 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.

Details

ISSN :
14391899 and 0174304X
Volume :
42
Database :
OpenAIRE
Journal :
Neuropediatrics
Accession number :
edsair.doi.dedup.....fc405d97e0f02fda375502760795641d
Full Text :
https://doi.org/10.1055/s-0031-1285925