Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

نویسندگان

  • Peter Johnson
  • Roxanne Melbourne-Chambers
  • Nilesh Desai
  • Emma Greenaway
چکیده

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations in PANK2. This is the first reported case of PKAN from the Caribbean.

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عنوان ژورنال:

دوره 2014  شماره 

صفحات  -

تاریخ انتشار 2014