Aicardi-Goutières Syndrome: Brief Case Report

J Pediatr Neurosci. 2018 Jan-Mar;13(1):88-90. doi: 10.4103/JPN.JPN_67_17.

Abstract

The case of a term newborn diagnosed with Aicardi-Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.

Keywords: Cerebral atrophy; cerebral calcifications; dystonia; encephalopathy; interferon alpha; lymphocytosis; pediatrics; spasticity.

Publication types

  • Case Reports