Abstract

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that primarily affects the central nervous system and is characterized by severe intellectual and physical disabilities. Although AGS traditionally exhibits nonpsychiatric symptoms, our case challenges this norm by presenting an 18-year-old male with AGS who developed distinctive psychiatric manifestations that required hospital admission.The patient, diagnosed with spastic cerebral palsy and thrombotic vasculopathy, displayed abrupt behavioral disturbances, insomnia, and food aversion. Standard assessments revealed basal ganglia calcifications and chilblain-like lesions, and AGS was confirmed via genetic studies that showed a mutation in the SAMHD1 gene. Despite initial treatment with aripiprazole and diazepam, psychiatric symptoms persisted. This led to the initiation of electroconvulsive therapy (ECT) with substantial success, marking its first documented use in AGS.In conclusion, this unique case broadens the comprehension of AGS, introducing psychiatric symptoms and pioneering the successful application of ECT. The intricate interplay of neurovascular involvement, genetic nuances, and innovative treatments underscores the complexity of AGS, encouraging further exploration of its diverse clinical spectrum and evolving therapeutic strategies.

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