Abstract
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-Goutières 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-Goutières syndrome may raise interesting aspects as to the limits and criteria of this syndrome.
Key words
Congenital familial encephalopathy - Chronic spinal fluid lymphocytosis - Intracranial
calcification -
Aicardi-Goutières syndrome - White matter disease
