Background: The Aicardi-Goutiéres syndrome (AGS) is a rare genetic encephalopathy, with about 120 cases around the world. It manifests in early life with psychomotor retardation, skill regression, cerebral calcifications, microcephaly, axial hypotonia, limb dystonia, skin lesions, hepatosplenomegaly, among other findings. To the best of our knowledge, there are no case reports describing the anesthetic approach to AGS patients.
Case Report:The clinical case describes a 2-year-old patient with AGS referred for the placement of a cochlear implant. Preoperative evaluation showed low wheight, delayed psychomotor development, axial hypotonia, microcephaly, retrognathism, dental crowding and diffuse skin lesions. Imaging tests showed characteristic abnormalities with hepatomegaly and multiple cerebral calcifications. Because of anticipated difficult airway, different sizes of airway devices were provided. We performed an intravenous induction, no muscle relaxant was used and the intubation was done successfully, with a smaller tube, after three attempts. Anesthetic maintenance was achieved with a total intravenous anesthesia. The child remained stable throughout the entire procedure. He was successfully extubated and taken to the pediatric intensive care unit (ICU).
Discussion:The anesthetic management of patients with rare syndromes characterized by multiorgan involvement is always a challenge. The involvement of physicians from other specialties is critical to the thorough assessment that is needed, and a carefull planning of the anesthesia should not neglect any point. The complete evaluation of the central nervous system and cardiorespiratory function allows us to be aware of the anesthetic risk, which was increased according to the pre-existing dysfunction. A possible difficult airway should be anticipated in many of these cases and the airway management should be carefully planned. The possible need for mechanical ventilation demands rigorous care in the ICU in the immediate postoperative period.
Learning points: AGS is a rare disorder with a poorly known anesthetic management. This article is a concise review of the rigorous care and the need for multidisciplinary involvement in the approach to these patients when proposed for surgery.

06 / Aicardi-Goutiéres syndrome - anaesthetic considerations in light of a case