Late diagnosis and atypical brain imaging of Aicardi-Goutieres syndrome: are we failing to diagnose Aicardi-Goutieres syndrome-2?

ABSTRACT: Aicardi-Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon-mediated innate immune response. Most patients with AGS present with progressive microcephaly, spasticity, and cognitive impairment. Some, especially those with type 2 (AGS2), manifest milder phenotypes, reduced childhood mortality, and relative preservation of physical and cognitive abilities. In this report, we describe two siblings (sister and brother) diagnosed with AGS2 in their second decade, who exhibited static encephalopathy since 1 year of age with spastic quadriplegia and anarthria but preserved intellect. Both were homozygous for the common pathogenic RN

SUBMITTER: Svingen L 

PROVIDER: S-EPMC5685901 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature