Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological...

Xeroderma pigmentosum (XP) is a rare (1 per 1 million in United States) and progressive autosomal recessive skin disorder, typically resulting in photosensitivity and predisposition to malignant neoplasia. Neurological involvement is observed in a subset of these patients, (e.g., XPA variant), with neurodegeneration impacting roughly one in four patients. The neurocognitive impact of patients with the XPA variant is not well established or documented in current literature. Therefore, this case report presents the neurocognitive functioning of a patient with confirmed XPA with predominately neurological manifestation.

This current study presents a 39-year-old, right-handed, man with 16 years of education, who was recently diagnosed with XPA via neurological and genetic assessment. He underwent a comprehensive neuropsychological assessment as part of a comprehensive work-up.

His neuropsychological profile revealed multi-domain cognitive impairment in executive functioning, language, visuospatial/constructive functioning, and encoding and retrieval aspects of memory. Behavioral/emotional regulation and social comportment were well preserved. Cognitive deficits have moderately impacted functional independence, resulting in a diagnosis of major neurocognitive disorder.

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.