Aicardi-Goutieres syndrome

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Aicardi-Goutieres syndrome
Classification and external resources
OMIM 225750
DiseasesDB 31680

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.

Aicardi-Goutieres syndrome is very rare, with only about 50 cases having been described. Current treatment is supportive, involving management of seizures and spasticity associted with the syndrome. [4]

[edit] References

  1. ^ McKusick, Victor A.. Aicardi-Goutieres syndrome. Mendelian Inheritance in Man. Retrieved on 2008-05-20.
  2. ^ a b Barker, Roger A.; Neil Scolding, Dominic Rowe, Andrew J. Larner (2005). The A-Z of Neurological Practice: A Guide to Clinical Neurology. Cambridge University Press, 21. ISBN 0521629608. 
  3. ^ Aicardi, Jean; Françoise Goutières (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neuro 15: 49-54. 
  4. ^ Learning about Aicardi-Goutières Syndrome. International Aicardi-Goutières Syndrome Association. Retrieved on 2008-05-21.

[edit] External links

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