Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
Noel Lorenzo Villalba, Santiago Díaz Nicolas, Maria Belen Alonso Ortiz and 3 more
European Journal of Case Reports in Internal Medicine · 2020
doi:10.12890/2020_001488 (opens in a new tab)
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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).
Abstract licence: CC BY-NC-ND
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