Fanconi anemia (FA) is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, physical abnormalities, and a heightened cancer risk. A severe neurological complication, Fanconi anemia neuroinflammatory syndrome (FANS), involves progressive neuroinflammation and brain lesions, resulting in cognitive and motor impairments. We present the case of a 12-year-old male with FANS and its neuroimaging findings over an 8-year period. The patient, with a history of stem cell transplant and graft-versus-host disease, initially presented with developmental delays at age 10, progressing to slurred speech and diplopia by age 12. Serial brain MRIs from 2016 to 2024 revealed the evolving features of FANS, but initially posed significant diagnostic challenges due to the rarity of this entity. Key imaging findings included multiple scattered foci of abnormal T2/FLAIR hyperintensity and enhancement throughout the brain, progressing to numerous ring-enhancing lesions with associated calcifications. Late-stage imaging showed large destructive lesions with significant mass effect, including a 3.6 cm rim-enhancing lesion causing 1.2 cm midline shift and ventricular entrapment. Early radiological differentials included infection, neurological manifestations of chronic graft-versus-host disease, cerebrovascular disease, and even aggressive brain tumors. Biopsy revealed necro-inflammation, with tumor analysis identifying a significant ESR1/CCDC170 gene variant. The clinical course was marked by relentless progression including cognitive decline, weakness, imbalance, and seizures. Multiple immunosuppressive therapies were attempted with limited success. This case emphasizes the importance of recognizing FANS imaging patterns, which progress from small enhancing lesions to large, destructive ones. The distinctive imaging features, combined with a history of Fanconi anemia, should prompt consideration of FANS in the differential diagnosis, even when other causes may seem more likely. Awareness of FANS as a complication in Fanconi anemia patients is crucial for timely diagnosis and management. Emphasis needs to be placed on researching effective treatments, as current options have limited success in halting progression. Recognizing FANS is essential to prevent unnecessary and harmful treatments for misdiagnosed conditions. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Martinez-sicari Jorge, Shahid Mehreen, Mahdi Eman, Canissario Ryan, Richard Hope, Sisler India, Jones Kathryn, Mishra Chakradhar, Vorona Gregory

Keywords: Genetics, Brain, Inflammation