Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

摘要

Introduction . Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation . We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting from late presentation of typical brain involvements of ANE in magnetic resonance imaging (MRI). Conclusion . The presented cases are the first reports of familial ANE in Iran. Attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients.