Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
oleh: Peter Johnson, Roxanne Melbourne-Chambers, Nilesh Desai, Emma Greenaway
| Format: | Article |
|---|---|
| Diterbitkan: | Hindawi Limited 2014-01-01 |
Deskripsi
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.