‘Eye-of-the-Tiger’ Sign and Classic Pantothenate Kinase Associated Neurodegeneration

Excerpt

A five-year-old girl presented with one-year history of gradual onset repeated falls while walking, dysarthria, increasing stiffness, toe walking and abnormal posturing of limbs. There was no diurnal variation and symptoms progressively worsened. On examination, she had mask-like facies with horizontal smile and generalized dystonia. Ocular examination revealed waxy pallor of the disc, arteriolar attenuation and alteration in retinal pigmentation with normal foveal reflex suggesting retinitis pigmentosa-sine-pigmento (Fig. 1). Magnetic resonance imaging (MRI) of brain revealed bilateral symmetrical hypointensity in the globus-pallidus with central hyperintensity, giving an ‘eye-of-tiger’ appearance on T2 weighted and FLAIR images (Fig. 2). Retinitis pigmentosa in eyes and characteristic MRI findings gave the diagnosis of Pantothenate kinase associated neurodegeneration (PKAN).

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