AICARDI-GOUTIERES-SYNDROME - AN EXPANDING PHENOTYPE

The Aicardi-Goutieres syndrome (AGS) is an autosomal recessive progres sive encephalopathy associated with basal ganglia calcification, white -matter abnormality, cerebro-spinal fluid (CSF) pleocytosis and elevat ed CSF interferon alpha (IFN alpha). Two brothers of consanguineous pa rents who presented in the first year with developmental delay are rep orted. The first boy is normocephalic with spastic diplegia and normal I.Q. Tests in the second year of life showed punctate calcification o f the basal ganglia and subcortical white matter and CSF pleocytosis. At 9 years clinical and imaging features are unchanged and CSF includi ng IFNa is normal. The second boy at 21 months has dystonic cerebral p alsy, slight fall-off in head growth and cognitive delay. Imaging abno rmalities are more severe than those in the brother, CSF examination r eveals pleocytosis and marked increase in IFN alpha, Detailed metaboli c and viral studies were negative in both cases. Although the clinical course is not progressive, it is suggested that the brothers have ACS and represent the mild end of the spectrum of the disorder. CSF exami nation (including IFN alpha), should be performed early in children wi th an apparently static encephalopathy and brain calcification, as typ ical abnormalities decrease or disappear with age.