Progressive Familial Encephalopathy With Calcification in the Basal Ganglia: Aicardi-Goutières Syndrome

Ekkatampalayam Periyeswami Rhajkumar, Rakesh Kotha, Alimelu Madireddy, Shivakumar Kothapally

Abstract

In 1984, Jean Aicardi and Francoise Goutières identified 8 children who had basal ganglia calcification, significant brain atrophy, and chronic cerebrospinal fluid lymphocytosis. The sickness progressed quickly, with either a vegetative or fatal outcome. The genetic nature of the disorder was correctly noted by Aicardi and Goutières, who also emphasized that “certain characteristics, especially the pleocytosis, may suggest an inflammatory syndrome.” The affected children’s elevated interferon-α level mimicked a congenital viral infection, but the pernio (chilblains) suggested lupus erythematosus and an autoimmune mechanism. The severity of Aicardi-Goutières syndrome (AGS) can range from a life-threatening prenatal sickness to a benign condition that appears in late infancy, both genetically and phenotypically diverse. In the first year of life, all infants, regardless of genotype, have elevated interferon-α level, and this appears to be the ultimate shared feature.

Here we present a rare case of AGS. Even in developing countries where awareness and immunization protocols are followed, the incidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH) infections has reduced, and the incidence of pseudo TORCH infections such as AGS are being noted.