Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

Abstract

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).

Keywords

• neurodegeneration with brain iron accumulation
• pantothenate kinase-associated neurodegeneration
• magnetic resonance imaging