Atypical Features of Posterior Reversible Encephalopathy Syndrome in a Child with Fanconi Anemia Post Hematopoietic Stem Cell Transplant

A bstract Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-radiologic condition characterized by seizures, encephalopathy, and vasogenic edema on neuroimaging, typically involving the parieto-occipital regions. We report a case of an 11-year-old girl with Fanconi anemia who underwent haploidentical hematopoietic stem cell transplantation (HSCT). On day +61 post-HSCT, she developed status epilepticus and was treated with antiseizure medications and supportive care. Extensive work-up excluded infections and metabolic causes. Magnetic resonance imaging revealed atypical findings, including bilateral cerebral and cerebellar involvement, left basal ganglia lesions, and leptomeningeal enhancement. Her condition improved with blood pressure control and supportive measures. Based on clinical recovery and imaging, a diagnosis of atypical PRES was made. This case highlights the importance of recognizing atypical radiological features of PRES, such as cortical and leptomeningeal enhancement, which can lead to diagnostic challenges. Early identification and management of the precipitating factors are crucial to preventing irreversible outcomes. To our knowledge, this is the first reported case of such atypical features of PRES in a child with Fanconi anemia post-HSCT.