Fig. 1: Patient details.
From: A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
a Patient at 12 months of age with microcephaly and bilateral cataracts. b Chilblain-like lesions (yellow arrowheads) at 2 months of age. c Brain CT at 1 month of age showing calcification of the basal ganglia and white matter. d Brain MRI (d-1 T1-weighted, d-2 T2-weighted) at 4 months of age revealed cerebral atrophy and polymicrogyria.
