Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome is a rare genetic disorder. It is also known as Cree encephalitis and pseudo-TORCH syndrome, both of which were once considered separate disorders. It is a type of leukodystrophy and is usually fatal within the first few years. It is autosomal recessive and presents within the first few weeks of life.

History
Aicardi-Goutieres syndrome was initially described by Jean Aicardi and Françoise Goutières in 1984, based on observations of eight cases of early-onset progressive familial encephalopathy, with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Further clinical studies included 11 cases of early-onset progressive encephalopathy in a Cree community in Canada, described in 1988, which were given the name Cree encephalitis .

Causes
Later work mapped the Aicardi-Goutieres syndrome to chromosome 3p21 and suggested that the two, along with the pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome were the same disorder.

The condition has been associated with TREX1.

Epidemiology
Aicardi-Goutieres syndrome is very rare, with only about 50 cases having been described.

Treatment and prognosis
Current treatment is supportive, involving management of seizures and spasticity associted with the syndrome.