Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
نویسندگان
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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ورودعنوان ژورنال:
دوره 2014 شماره
صفحات -
تاریخ انتشار 2014