Description

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)


To read more or access our algorithms and calculators, please log in or register.