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Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
- Source :
- European Journal of Case Reports in Internal Medicine (2020), European Journal of Case Reports in Internal Medicine
- Publication Year :
- 2020
- Publisher :
- SMC Media, 2020.
-
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.
- 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
Subjects
Details
- ISSN :
- 22842594
- Database :
- OpenAIRE
- Journal :
- European Journal of Case Reports in Internal Medicine
- Accession number :
- edsair.doi.dedup.....5ad8e47ec486aec43a5d5eff8eebef90