Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Intellectual disability can be associated with various neurological conditions.
• Extrapyramidal dysfunction requires thorough investigation to identify underlying causes.

Purpose of the Study:

• To present a case of atypical pantothenate kinase-associated neurodegeneration (PKAN).
• To highlight the importance of re-evaluating patients with intellectual disability and extrapyramidal symptoms.

Main Methods:

• Clinical case reporting.
• Review of patient's clinical features and diagnostic investigations.

Main Results:

• A 27-year-old man initially diagnosed with syndromic intellectual disability was found to have atypical PKAN.
• The diagnosis was confirmed through re-evaluation of clinical presentation and investigations.

Conclusions:

• Patients with intellectual disability warrant comprehensive evaluation.
• Atypical PKAN should be considered in the differential diagnosis of progressive extrapyramidal dysfunction, spasticity, and psychiatric disturbances.