Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report

Abstract

Aicardi Goutiere’s syndrome is an autosomal recessive neurodegenerative disorder. Its clinical signs usually mimic TORCH-like clinical signs; which makes the differential diagnosis difficult. Here, we report a case with one homozygous pathogenic mutation c.529G>A p.Ala177Thr on RNASEH2B gene (NM_024570) that relates to Aicardi-Goutieres syndrome type 2 that had been misdiagnosed in about 5 years.

Keywords

• aicardi goutieres
• neurogenetics
• next generation sequencing