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 cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutieres syndrome. Both sisters were affected by a spastic tetraplegia, truncal hypotonia and dystonic posturing, but the clinical course and the neuroradiological findings were milder in the older sister and she showed no cerebrospinal fluid pleocytosis. The present cases and recent reports of intrafamilial variability of Aicardi-Goutieres syndrome may raise interesting aspects as to the limits and criteria of this syndrome.