Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report

Aicardi-Goutières syndrome (AGS) is a rare hereditary autoinflammatory disease of subacute encephalopathy, characterized by a wide range of neurological and extra-neurological manifestations, primarily affecting the brain and skin. Key features include increased expression of interferon-stimulated genes (ISGs), acquired microcephaly, dystonia, spasticity, chilblains, and panniculitis. Radiological findings include cerebral calcifications, leukodystrophy, cerebral atrophy, and cerebrospinal fluid abnormalities such as chronic lymphocytosis and elevated interferon-alpha (INF-α) levels. Seven pathogenic genes have been identified in association with AGS. The management of AGS is primarily supportive, as there is currently no definitive cure for the condition. The primary goals are to address symptoms, improve quality of life, and prevent complications. The aim of this study was to emphasize the importance of early diagnosis of this rare genetic condition, as timely identification enables prompt intervention and management. Early diagnosis improves clinical outcomes, enhances the quality of life for affected individuals, and provides valuable guidance for family planning and genetic counseling.