An Aicardi-Goutieres Syndrome 2 Case

Aicardi-Goutieres Syndrome 2 (AGS2) is a rare disease characterized by progressive neurological dysfunction starting in the first 2 years of life, accompanied by encephalopathy, spastic paraplegia and dystonia. A small number of cases with normal cognitive development have also been reported. Brain computed tomography (CT) or Brain magnetic resonance imaging (MRI) detects cerebral and cerebellar calcifications, particularly in the basal ganglia. The disease occurs due to homozygous or compound heterozygous mutations in the RNASEH2B gene, which is located in the 13q14 region and encodes the B subunit of ribonuclease H2, and is inherited as autosomal recessive. In this article, we present a patient who was admitted at the age of 4 months due to lack of weight gain and developed congenital glaucoma, febrile convulsion, psychomotor growth retardation, microcephaly, hypotonia and diffuse spasticity in the follow-up. Calcification was detected in the cerebral and cerebellar hemispheres and basal ganglia on brain CT. Thinning of the corpus callosum, hypoplasia of the brain stem and cerebellar vermis, loss of white matter at the centrum semiovale level, increased signal in the remaining white matter, and retardation in myelination for age was observed on brain MRI. The patient was diagnosed AGS2 with RNASEH2B mutation in whole-exome sequencing (WES) analysis.
Keywords: Aicardi – Goutieres Syndrome 2, AGS2, RNASEH2B, microcephaly