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Brought to you by the Resident and Fellow Section of Neurology®.
March 13, 2013
Aicardi– Goutieres syndrome is a rare, usually autosomal recessive, congenital immune– mediated neurodevelopmental disorder that is commonly classified as a leukodystrophy. Within the first year of life most individuals with Aicardi– Goutieres syndrome experience an episode encephalopathy that may last for months, and often results in permanent severe neurologic damage. Most affected individuals do not survive past childhood. While many newborns with Aicardi– Goutieres syndrome do not show any obvious symptoms of the disorder at birth, about 20 percent are born with hepatosplenomegaly, elevated liver enzymes, thrombocytopenia, and abnormal neurological responses.
Submitted by Stacey Clardy, M.D. Ph.D. Autoimmune Fellow, Mayo Clinic.
Disclosure: Dr. Clardy is a former member of the Resident and Fellow Section of Neurology.
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