Lorenzo Villalba, Noel and Díaz Nicolas, Santiago and Alonso Ortiz, Maria Belen and Cordoba Sosa, Zaida and Suárez Ortega, Saturnino and Zulfiqar, Abrar-Ahmad (2020) Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis. European Journal of Case Reports in Internal Medicine, 7 (3). ISSN 2284-2594
|
Text
document (1).pdf - Published Version Download (346kB) | Preview |
Official URL: https://www.ejcrim.com/index.php/EJCRIM/article/vi...
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).
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Neurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, magnetic resonance imaging |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 19 Nov 2020 10:11 |
| Last Modified: | 19 Nov 2020 10:11 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/19893 |
Actions (login required)
 |
View Item |
