Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
  • Noel Lorenzo Villalba
    Service de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • Santiago Díaz Nicolas
    Neurology Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain
  • Maria Belen Alonso Ortiz
    Internal Medicine Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain
  • Zaida Cordoba Sosa
    Internal Medicine Department, Fuerteventura General Hospital, Puerto del Rosario, Spain
  • Saturnino Suárez Ortega
    Internal Medicine Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain
  • Abrar-Ahmad Zulfiqar
    Service de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

Keywords

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

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).

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References

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    Published: 2020-02-13
    Issue: 2020: Vol 7 No 3 (view)

    How to cite:
    1.
    Lorenzo Villalba N, Díaz Nicolas S, Alonso Ortiz MB, Cordoba Sosa Z, Suárez Ortega S, Zulfiqar A-A. Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis. EJCRIM 2020;7 doi:10.12890/2020_001488.

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