
@article{ref1,
title="Intellectual disability, falls and gait disturbances: a misdiagnosis",
journal="European journal of case reports in internal medicine",
year="2020",
author="Lorenzo Villalba, Noel and Díaz Nicolas, Santiago and Alonso Ortiz, Maria Belen and Cordoba Sosa, Zaida and Suárez Ortega, Saturnino and Zulfiqar, Abrar-Ahmad",
volume="7",
number="3",
pages="e001488-e001488",
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). LEARNING POINTS: Patients with an intellectual disability should be carefully evaluated.In the evaluation of a patient with extrapyramidal dysfunction for several years, with gradual progression, spasticity and psychiatric disturbances, PKAN should be considered.<br><br>© EFIM 2020.<p /> <p>Language: en</p>",
language="en",
issn="2284-2594",
doi="10.12890/2020_001488",
url="http://dx.doi.org/10.12890/2020_001488"
}