Aicardi-Goutières Syndrome: A Case Report

Saturday, June 20th, 2020

Background: Aicardi-Goutières Syndrome (AGS) is a rare genetic neurological disorder that presents as pseudo-TORCH syndrome. There are 350 confirmed cases worldwide. This case report describes a 22-month-old male with Aicardi-Goutières Syndrome who was diagnosed at four months of age. This paper seeks to highlight AGS as a differential for TORCH Syndrome, and to build on the limited knowledge from previous cases to identify key concepts and management strategies that may be of benefit to the medical community.

Case overview: A four-month-old male was admitted to a New Zealand Hospital in status epilepticus.A history of inconsolable crying, subjective fevers and abnormal posturing was elicited. Examination found a spastic quadriplegic cerebral palsy. Investigation excluded infective causes. MRI and CT scans demonstrated atrophy of the cerebral cortex with calcification of the basal ganglia. CSF analysis showed elevated white cells and neopterin, and genetic analysis identified variants of unknown significance in the ADAR1 gene. A diagnosis of AGS was made. Treatment focused on managing complications including seizures, spasticity, and airway clearance.

Discussion overview: This case highlights AGS as a differential for TORCH syndrome. Complication management forms the basis of care. Current literature is limited, and future research is needed to understand the pathophysiology of the disease to develop treatments and management strategies.

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