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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.[1] It is a type of leukodystrophy and is usually fatal within the first few years.[2] It is autosomal recessive and presents within the first few weeks of life.[2]
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. [3] 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 .
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.[4]
Aicardi-Goutieres syndrome is very rare, with only about 50 cases having been described.
Current treatment is supportive, involving management of seizures and spasticity associated with the syndrome. [5]
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