NEUROMYELITIS OPTICA IN A CHILD WITH AICARDI-GOUTIERES SYNDROME

Aicardi-Goutieres syndrome (AGS) is a monogenic inflammatory disorder typically presenting in infancy as a progressive encephalopathy demonstrating phenotypic overlap in some cases with both congenital infection and systemic lupus erythematosus (SLE), with mutations in 7 genes identified. All forms are associated with a perturbation of type I interferon metabolism,(1) with a defect in the removal, or sensing, of endogenously produced nucleic acid species that activate the immune system.(1) Recently, immunoglobulin G staining of astrocytes in brain sections of 3 deceased patients with AGS were reported,(2) but no specific antigen was identified and the staining patterns were not typical for neuromyelitis optica (NMO). We describe a girl with a heterozygous mutation in IFIH1 who developed NMO with aquaporin-4 antibodies (AQP4-Ab) who clearly responded to immunotherapy.