Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report

Mohammad Moein Vakilzadeh; Najmeh Ahangari; Ehsan Ghayoor Karimiani; Mehran Beiraghi Toosi

Volume 8, Issue 4 , December 2021, , Pages 194-196


  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 ...  Read More