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Case Reports
. 2012;11(4):155-8.

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings

Mitra Ansari Dezfouli  1 , Elham Jaberi, Afagh Alavi, Mohammad Rezvani, Gholamali Shahidi, Elahe Elahi, Mohammad Rohani
Affiliations
Case Reports

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings

Mitra Ansari Dezfouli et al. Iran J Neurol. 2012.

Abstract

Background: Pantothenate kinase associated neurodegeneration (PKAN) is the most prevalent type of neurodegeneration with brain iron accumulation (NBIA) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on T2 brain magnetic resonance imaging (MRI) characterized by hypointensity in globus pallidus and a hyperintensity in its core. All PKAN patients have homozygous or compound heterozygous mutation in PANK2 gene.

Methods: Three sibling patients were diagnosed based on clinical presentations especially extrapyramidal signs and brain MRI. The exons and flanking intronic sequences of PANK2 were sequenced from DNA of leukocytes of the affected individuals.

Results: All patients were homozygous for c.C1069T, p.R357W in PANK2 gene. This mutation is well conserved in the homologous protein of distally related spices.

Conclusion: In the current study we identified three siblings affected with PKAN, all of them have mutations in PANK2 gene. In MRI of all patients with PANK2 mutation eye-of-the-tiger sign was apparent.

Keywords: Brain Iron Accumulation; Eye-of-the-Tiger sign; Neurodegeneration; PANK2 gene; Pantothenate Kinase Associated Neurodegeneration.

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Figures

Figure 1
Figure 1
T2 weighted Brain magnetic resonance imaging of the patient I which shows a central hyperintensity within a surrounding area of hypointensity in globus pallidus (eye-of-the-tiger)
Figure 2
Figure 2
Chromatograms include mutations in each patient, the last one shows normal sequence
See this image and copyright information in PMC

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