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

## TL;DR

This case report highlights the delayed diagnosis of Aicardi-Goutières syndrome in a child with a TREX1 mutation and emphasizes the importance of early detection for better outcomes.

## Contribution

The study contributes a case report emphasizing the significance of early diagnosis in managing Aicardi-Goutières syndrome.

## Key findings

- Delayed diagnosis of AGS in a 10-year-old with TREX1 mutation is reported.
- Early diagnosis is shown to improve clinical outcomes and quality of life.
- Supportive management remains the standard due to lack of definitive cure.

## Abstract

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.