Presentation
Bulbar dystonia with postural abnormalities of limbs since 5 years
Patient Data
Age: 15 years
Gender: Female
From the case:
Pantothenate kinase-associated neurodegeneration
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Bilateral symmetrical T1/T2 hypointense signal changes noted in bilateral globus pallidi and substantia nigra with blooming on SWI sequence. Central areas of T2 hyperintensities noted in bilateral globus pallidi giving 'eye of the tiger' appearance.
Case Discussion
Diagnosis of pantothenate kinase-associated neurodegeneration (PKAN) was made based on clinical and radiological evidence.
It is an autosomal recessive disorder and is a subset of neurodegeneration with brain iron accumulation (NBIA).
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