Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series. Issue 3 (17th February 2020)

• Record Type: Journal Article
• Authors: Videira, Gonçalo; Malaquias, Maria João; Laranjinha, Inês; Martins, Ricardo; Taipa, Ricardo; Magalhães, Marina
• Is Part Of: Movement disorders clinical practice. Volume 7:Issue 3(2020)
• Page Start: 303
• Page End: 307
• Publication Date: 2020-02-17
• Subjects: Chilblains -- dystonia -- interferonopathy -- basal ganglia -- neuropediatric; Movement Disorders; Movement disorders -- Periodicals; Movement disorders; Periodicals; Periodicals; 616
• DOI: 10.1002/mdc3.12903
• Languages: English
• ISSNs: 2330-1619

Abstract

ABSTRACT: Introduction: Aicardi‐Goutières syndrome (AGS) is a genetic disease presenting with early‐onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A, p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal‐onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans. Discussion: AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis. Abstract : View Supplementary Video