Publications by authors named "Santiago Diaz-Nicolas"
Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis.
Noel Lorenzo Villalba Santiago Díaz Nicolas Maria Belen Alonso Ortiz Zaida Cordoba Sosa Saturnino Suárez Ortega
Eur J Case Rep Intern Med
February 2020
Unlabelled: 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).
Learning Points: Patients with an intellectual disability should be carefully evaluated.