Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

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 pantothen...

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Main Authors: Noel Lorenzo Villalba, Santiago Díaz Nicolas, Maria Belen Alonso Ortiz, Zaida Cordoba Sosa, Saturnino Suárez Ortega, Abrar-Ahmad Zulfiqar
Format: Article
Language:English
Published: SMC MEDIA SRL 2020-02-01
Series:European Journal of Case Reports in Internal Medicine
Subjects:
neurodegeneration with brain iron accumulation
pantothenate kinase-associated neurodegeneration
magnetic resonance imaging
Online Access:https://www.ejcrim.com/index.php/EJCRIM/article/view/1488
id doaj-fe0e50a1cc7847bab6e1b8089f48fc42
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spelling doaj-fe0e50a1cc7847bab6e1b8089f48fc422020-11-25T03:42:17ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942020-02-0110.12890/2020_0014881144Intellectual Disability, Falls and Gait Disturbances: A MisdiagnosisNoel Lorenzo Villalba0Santiago Díaz Nicolas1Maria Belen Alonso Ortiz2Zaida Cordoba Sosa3Saturnino Suárez Ortega4Abrar-Ahmad Zulfiqar5Service de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, FranceNeurology Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, SpainInternal Medicine Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, SpainInternal Medicine Department, Fuerteventura General Hospital, Puerto del Rosario, SpainInternal Medicine Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, SpainService de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, FranceWe 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).https://www.ejcrim.com/index.php/EJCRIM/article/view/1488neurodegeneration with brain iron accumulationpantothenate kinase-associated neurodegenerationmagnetic resonance imaging
collection DOAJ
language English
format Article
sources DOAJ
author Noel Lorenzo Villalba
Santiago Díaz Nicolas
Maria Belen Alonso Ortiz
Zaida Cordoba Sosa
Saturnino Suárez Ortega
Abrar-Ahmad Zulfiqar
spellingShingle Noel Lorenzo Villalba
Santiago Díaz Nicolas
Maria Belen Alonso Ortiz
Zaida Cordoba Sosa
Saturnino Suárez Ortega
Abrar-Ahmad Zulfiqar
Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
European Journal of Case Reports in Internal Medicine
neurodegeneration with brain iron accumulation
pantothenate kinase-associated neurodegeneration
magnetic resonance imaging
author_facet Noel Lorenzo Villalba
Santiago Díaz Nicolas
Maria Belen Alonso Ortiz
Zaida Cordoba Sosa
Saturnino Suárez Ortega
Abrar-Ahmad Zulfiqar
author_sort Noel Lorenzo Villalba
title Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
title_short Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
title_full Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
title_fullStr Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
title_full_unstemmed Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
title_sort intellectual disability, falls and gait disturbances: a misdiagnosis
publisher SMC MEDIA SRL
series European Journal of Case Reports in Internal Medicine
issn 2284-2594
publishDate 2020-02-01
description 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).
topic neurodegeneration with brain iron accumulation
pantothenate kinase-associated neurodegeneration
magnetic resonance imaging
url https://www.ejcrim.com/index.php/EJCRIM/article/view/1488
work_keys_str_mv AT noellorenzovillalba intellectualdisabilityfallsandgaitdisturbancesamisdiagnosis
AT santiagodiaznicolas intellectualdisabilityfallsandgaitdisturbancesamisdiagnosis
AT mariabelenalonsoortiz intellectualdisabilityfallsandgaitdisturbancesamisdiagnosis
AT zaidacordobasosa intellectualdisabilityfallsandgaitdisturbancesamisdiagnosis
AT saturninosuarezortega intellectualdisabilityfallsandgaitdisturbancesamisdiagnosis
AT abrarahmadzulfiqar intellectualdisabilityfallsandgaitdisturbancesamisdiagnosis
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