Aicardi-Gutieres Syndrome Case Study

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Aicardi-Gutieres syndrome (AGS) was first described in 1984 as a familial progressive encephalopathy, and has since been reported in several cases from various ethnic backgrounds (3). The condition is considered a Mendelian mimic of congenital TORCH infection, and is characterized by spasticity, dystonia, delayed psychomotor development, chronic cerebrospinal fluid (CSF) leukocytosis, and leukodystrophy. Microcephaly, hepatosplenomegaly and cortical blindness can be seen in severe cases. Clinically, children can present just with non-specific seizures and developmental delays, and CSF leukocytosis or abnormal brain MRI may go undetected unless a specific work-up is undertaken. Chronic inflammatory skin conditions are commonly reported, including

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