Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

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

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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

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