Brainstem lesion in Aicardi-Goutières syndrome

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature

“…To date, the literature reports 51 cases throughout the world, many of which are familial (Table 1). 3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,19 To avoid swelling artificially the number of described cases, this figure was reached by counting only detailed clinical cases, and not those collected in broader immunological, genetic and neuropathological studies, such as the papers published by Crow 20 , Lebon 21 and Barth 18 , or those reported only briefly 10 .…”

“…22 3. The presence of cerebral white matter alterations upon neuroradiological investigation: 22 hypodensities on CT scan and, in MRI, a hyperintense signal in T2weighted images, above all at periventricular level and sometimes also involving the brainstem 16 and pyramidal tracts. 4.…”