Citation

Lorenzo Villalba N, Díaz Nicolas S, Alonso Ortiz MB, Cordoba Sosa Z, Suárez Ortega S, Zulfiqar AA. Eur. J. Case Rep. Intern. Med. 2020; 7(3): e001488.

Affiliation

Service de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Copyright

(Copyright © 2020, SMC Media)

DOI

10.12890/2020_001488

PMID

32206646

PMCID

PMC7083189

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.

© EFIM 2020.

Language: en

Keywords

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