Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report

There was widespread neurocognitive impairment in this XPA patient with neurodegeneration. However, significant cognitive decline did not present until adulthood in this patient, and preserved behavioral functioning bodes well for maintaining functional independence in a structured environment. Neuropsychological assessment early in diagnostic confirmation is key in tracking progression of cognitive decline, and in implementing supports to preserve functional independence.