Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is a hereditary encephalopathy, characterized by an association with leukodystrophy, calcified basal ganglia and lymphocystosis of the cerebrospinal fluid. 

Affected children are initially born at normal time and without physical disabilities. Symptoms occur during the first days of life, including anxiety problems and psychomotor slowdown. In about half of all cases, epilepsy, skin erosion and fever are also occur.

For several months, the symptoms are changeable, pyramidal signs and microcephaly appear, until patients reach symptomatic stability. In case of such a severe form, the cognitive function and the ability to speak are very limited, or can not develop at all.

Less severe forms only manifest themselves after the first year of life, those affected are mostly in possession of cognitive functions, can speak, and have a normal head circumference.

The inheritance is autosomal recessive in most cases. The causes are mutations in the TREX1, RNASEH2A, RNASEH2C or RNASEH2B gene. In the first three cases there is a severe phenotype, the latter leads to a milder disease course. 

There are also cases described which did not show any mutations in the four mentioned genes.