Pantothenate kinase-associated neurodegeneration

Case contributed by Dr Pavan Borra

Presentation

Bulbar dystonia with postural abnormalities of limbs since 5years

Patient Data

Age: 15 years
Gender: Female

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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Case information

rID: 69441
Published: 11th Jul 2019
Last edited: 12th Jul 2019
Inclusion in quiz mode: Included

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