NEUROIMAGING ASPECTS IN AICARDI-GOUTIÈRES SYNDROME: AN INTEGRATIVE REVIEW

• DOI: https://doi.org/10.22533/at.ed.1594572425068

• Palavras-chave: Aicardi Syndrome, Neuroimaging, Neurology and Rare diseases.

• Keywords: Aicardi Syndrome, Neuroimaging, Neurology and Rare diseases.

• Abstract:

  Objective: To investigate and synthesize neuroimaging findings in Aicardi Syndrome, with the aim of providing a comprehensive understanding of the brain structural features observed in this condition. Method: This is an integrative review of the literature, research was carried out using databases available in the Virtual Health Library (VHL), Medical Literature Analysis and Retrieval System Online (MEDLINE), National Library of Medicine/PubMed, SciELO. The descriptors used were: The descriptors used were: "Aicardi Syndrome", "Neuroimaging", "Neurology" and "Rare diseases". Combined with the Boolean operators OR / AND. Results: The selected studies highlight significant brain changes in Aicardi-Goutières Syndrome (GAS), such as agenesis of the corpus callosum, nodular heterotopies, polymicrogyria and intracranial cysts. Prenatal characteristics were identified, such as cortical malformations and optic nerve coloboma, differentiating GAS from other conditions. Another showed seizures, severe intellectual disability and frequent visual problems. It also revealed early epileptic seizures and basal ganglia dysmorphisms. Furthermore, he highlighted new discoveries such as frontal polymicrogyria and enlargement of the thalamus, suggesting the diagnosis of GAS through the combination of these radiological characteristics. Conclusion: Neuroimaging is essential in the management of Aicardi-Goutières Syndrome (GAS), allowing diagnosis and monitoring through the identification of specific brain characteristics, such as calcifications, atrophy and white matter abnormalities. Furthermore, it helps to understand the mechanisms of the disease, reflecting inflammatory and neurodegenerative processes. Despite the challenges, new techniques promise advances in the understanding of GAS, offering opportunities for research and more effective therapies, highlighting the importance of neuroimaging to improve patients' care and quality of life.