Eye-of-the-Tiger Sign: A Case Report of a Key MRI Clue to Pantothenate Kinase-Associated Neurodegeneration in an Eight-Year-Old Girl - Cureus
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Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder and the most common form of neurodegeneration with brain iron accumulation (NBIA), whose imaging hallmark is the "eye-of-the-tiger" sign of the globus pallidus on brain MRI. We report the case of an eight-year-old girl, born to first-cousin parents, with a history of delayed walking and language acquisition, who presented with a four-month history of worsening gait instability and frequent falls. Neurological examination revealed dysarthria, lower-limb dystonia, postural tremor, brisk deep tendon reflexes, and bilateral extensor plantar responses. Brain MRI at 1.5 T showed bilateral, symmetric T2 hypointensity of the globus pallidus surrounding a central hyperintense focus, consistent with the eye-of-the-tiger sign, with marked pallidal signal loss on susceptibility-weighted imaging (SWI). The substantia nigra, dentate nuclei, cerebellum, and remaining brain parenchyma were normal, as were serum copper, ceruloplasmin, and lactate levels. This combination of a progressive extrapyramidal and pyramidal syndrome with the eye-of-the-tiger sign pointed to PKAN, pending genetic confirmation. This ca
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