Abstract
Aicardi-Goutières syndrome (AGS) is a rare, genetic, early-onset and progressive encephalopathy. In its most characteristic form, AGS manifests with severe intellectual and physical disability. AGS is genetically heterogeneous, most frequently inherited in an autosomal recessive pattern, but it is also possibly inherited in an autosomal dominant manner or from specific de novo mutations. We present an Aicardi-Goutières syndrome case prenatally diagnosed in our Center by means of exome sequencing of the amniotic fluid of the fetus. A mutation in the RNASEH2B gene was found in homozygosis. Currently, the infant is 3 years old with severe psychomotor retardation. Prenatal diagnosis of this entity is rare but it would be desirable for prognosis, management and future counselling purposes.
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