A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome

Two sibs with an encephalopathy, including intracerebral calcification and a white matter disease, are reported. In the younger sister, the cerebrospi nal fluid showed chronic pleocytosis and clinically she strictly fits to th e diagnosis of Aicardi-Goutieres syndrome. Both sisters were affected by a spastic tetraplegia, truncal hypotonia and dystonic posturing, but the clin ical course and the neuroradiological findings were milder in the older sis ter and she showed no cerebrospinal fluid pleocytosis. The present cases an d recent reports of intrafamilial variability of Aicardi-Goutieres syndrome may raise interesting aspects as to the limits and criteria of this syndro me.