Familial CNS-Isolated hemophagocytic lymphohistiocytosis due to a novel PRF1 mutation triggered by SARS-CoV2

Conclusions: This is the first presentation of CNS-isolated familial HLH triggered by SARS-CoV-2 in the pediatric population. Furthermore, this is the first report of this specific PRF1 mutation, the variant c.4422G>A, as pathogenic. It highlights the relevance of genetic testing in pediatric neuroinflammatory disorders that do not respond adequately to conventional treatments. It is possible that as our knowledge in neurogenetics develops, certain genes will be identified as predisposing factors to syndromes such as ADEM.

Source: Annals of Indian Academy of Neurology - December 3, 2022 Category: Neurology Authors: Natalia Gonzalez Caldito Jocelyn Lorenzo Cynthia Xinzi Wang Source Type: research