Neuromyelitis optica in a child with Aicardi-GoutiEres syndrome

Hacohen, Y., Zuberi, S., Vincent, A., Crow, Y. J. and Cordeiro, N. (2015) Neuromyelitis optica in a child with Aicardi-GoutiEres syndrome. Neurology, 85(4), pp. 381-383. (doi: 10.1212/wnl.0000000000001792) (PMID:26136517)

Abstract

Aicardi-Goutières 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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Zuberi, Dr Sameer
• Authors: Hacohen, Y., Zuberi, S., Vincent, A., Crow, Y. J., and Cordeiro, N.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Neurology
• Publisher: American Academy of Neurology
• ISSN: 0028-3878
• ISSN (Online): 1526-632X