The Aicardi-Goutieres Syndrome is a rare disorder with a presentation during childhood. It was described by Aicardi and Goutieres in 1984.
Inheritance may be autosomal dominant or recessive/
There are at least 7 genes that have been implicated in the syndrome: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Clinical features:
(1) encephalopathy
(2) intellectual disability
(3) acquired microcephaly (onset during infancy)
(4) dystonia and spasticity
(5) sterile pyrexia
(6) hepatosplenomegaly
(7) chilblain lesions on hands, feet and ears
Additional finding may include:
(1) hepatosplenomegaly
(2) diabetes inspidus
(3) glaucoma
(4) scoliosis
(5) diabetes mellitus
(6) hypothyroidism
Laboratory findings in the CSF:
(1) chronic lymphocytosis
(2) elevated interferon alpha activity
(3) elevated concentration of neopterin
Other laboratory findings:
(1) multiple autoantibodies
Imaging findings:
(1) calcification of the basal ganglia
(2) cerebral atrophy
(3) bilateral strial necrosis
(4) intracranial vasculopathy
Differential diagnosis:
(1) congenital viral infection
(2) systemic lupus erythematosus (SLE)
