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2 results on '"Santiago Díaz Nicolas"'

1. Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

Author

Noel Lorenzo Villalba, Santiago Díaz Nicolas, Maria Belen Alonso Ortiz, Zaida Cordoba Sosa, Saturnino Suárez Ortega, and Abrar-Ahmad Zulfiqar

Subjects
neurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, magnetic resonance imaging, Medicine
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).

Published
2020
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2. Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

Author

Zaida Cordoba Sosa, Saturnino Suárez Ortega, Santiago Díaz Nicolas, Abrar-Ahmad Zulfiqar, Maria Belen Alonso Ortiz, and Noel Lorenzo Villalba

Subjects
medicine.medical_specialty, Neurodegeneration with brain iron accumulation, lcsh:Medicine, Pantothenate kinase-associated neurodegeneration, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, pantothenate kinase-associated neurodegeneration, Intellectual disability, Internal Medicine, medicine, magnetic resonance imaging, 030212 general & internal medicine, Spasticity, neurodegeneration with brain iron accumulation, Gait Disturbance, business.industry, lcsh:R, Neurodegeneration, Articles, medicine.disease, Learning disability, Psychiatric disturbances, medicine.symptom, business, 030217 neurology & neurosurgery
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.

Published
2020

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