Article
Aicardi-Goutières syndrome: an expanding phenotype.
Neuropediatrics - 1 Jun 1998
McEntagart M, Kamel H, Lebon P, King M D
Abstract excerpt
The Aicardi-Goutières syndrome (AGS) is an autosomal recessive progressive encephalopathy associated with basal ganglia calcification, white-matter abnormality, cerebro-spinal fluid (CSF) pleocytosis and elevated CSF interferon alpha (IFN alpha). Two brothers of consanguineous parents who presented in the first year with developmental delay are reported. The first boy is normocephalic with spastic diplegia and...
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