Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
KeywordsNeurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, magnetic resonance imaging
We report the case of a 27-year-old man presenting with slowly progressive extrapyramidal dysfunction and learning disability considered to have a syndromic intellectual disability. The re-evaluation of the clinical features and the investigations performed led to the diagnosis of atypical pantothenate kinase-associated neurodegeneration (PKAN).
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