Aicardi-Goutières syndrome with emphasis on sonographic features in infancy

Aicardi-Goutières syndrome (AGS) is a severe familial, mostly autosomal recessive encephalopathy, first described in 1984. The clinical picture and genetic abnormalities are heterogeneous. US findings in AGS have thus far not been systematically described.

The purpose of this study was to analyse sonographic features in AGS and to compare them to CT/MRI.

Four male infants with AGS, two brothers, underwent imaging between the ages of 4 weeks and 6 months.

Sonographically isolated mineralization of lenticulostriate vessels, dilatation of the lateral ventricles, subependymal cysts, and diffuse and focal hyperechogenicity of the periventricular white matter and basal ganglia, respectively, were the abnormal findings, that may be present even before the development of major neurological symptoms.

Early cranial US is able to visualize the whole spectrum of cerebral anomalies in AGS: calcifying microangiopathy, white matter disease and unusual subependymal cysts. The imaging pattern is similar to that of congenital viral infection of the central nervous system, which may mislead the genetic counseling.