Aicardi-Goutières Syndrome: About a 7-Month-Old Infant

The Aicardi-Goutières syndrome is an encephalopathy characterized by an arrest of psychomotor development in the first months of life, spastic tetraplegia spastic tetraplegia, abnormal movements and acquired microcephaly. Neuroimaging reveals calcifications of the basal ganglia and cerebrospinal fluid (CSF) study shows lymphocytosis. Our patient is a 7 month old child, from a 1st degree consanguineous marriage. She presents a psychomotor delay with hypotonia, nystagmus and convulsive myoclonic seizures. Cerebral CT shows an active tri ventricular hydrocephalus with multiple parenchymal calcifications with multiple cerebral parenchymal calcifications and basal ganglia of infectious appearance. The intercritical sleep EEG was unremarkable. Ophthalmological examination, including an EPI, revealed a probable retinal dystrophy predominantly on the scopic system. Brain MRI shows a mesencephalic atrophy of the annular protuberance and increased volume of the volume of the cisterns of the posterior cerebral fossa. The dosage of interferon alpha in the CSF is increased to 113 pg /ml.