E-Pearl of the Week: Aicardi-Goutieres syndrome

March 14, 2013

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March 13, 2013

Aicardi–Goutieres syndrome

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.

References

  1. J. Aicardi, F. Goutières.  A progressive familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.  Ann Neurol 1984; 15: 49–54.

  2. Fazzi E, Cattalini M, Orcesi S, et.al. Aicardi– Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder? Autoimmun Rev 2012; Aug 24.

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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