Global Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient.

Abstract

Fanconi anemia is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, congenital anomalies, and increased cancer risk. Intellectual disability and developmental disorders in Fanconi anemia have been briefly described in previous studies, but there has been limited in-depth examination of cognitive functioning associated with Fanconi anemia. This case report presents comprehensive neuropsychological findings from a 39-year-old woman with Fanconi anemia, detailing significant cognitive impairment, including intellectual disability with concomitant deficits in learning and memory, processing speed, and complex attention/executive functions, while basic language and basic visuospatial skills remained relatively preserved. Neuroimaging revealed nonspecific cerebral calcifications. This cognitive profile aligns with limited existing reports suggesting intellectual disability and global cognitive impairment in Fanconi anemia. This case highlights the critical gap in Fanconi anemia literature regarding comprehensive neuropsychological data and underscores the necessity of systematic cognitive assessments in this population. Future research should include large-scale and longitudinal studies, potentially incorporating standardized cognitive testing within existing frameworks such as the International Fanconi Anemia Registry, to better characterize and understand cognitive trajectories and to develop targeted interventions to enhance the quality of life in individuals with Fanconi anemia.