1. Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series
- Author
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Gonçalo Videira, Ricardo Taipa, Marina Magalhães, Inês Laranjinha, Maria João Malaquias, and Ricardo Cruz Martins
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Movement disorders ,Encephalopathy ,030105 genetics & heredity ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Outpatient clinic ,Case Series ,Chilblains ,Dystonia ,medicine.diagnostic_test ,business.industry ,interferonopathy ,Magnetic resonance imaging ,neuropediatric ,medicine.disease ,Neurology ,basal ganglia ,Aicardi–Goutières syndrome ,dystonia ,Neurology (clinical) ,medicine.symptom ,business ,Asymptomatic carrier ,030217 neurology & neurosurgery - 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. info:eu-repo/semantics/publishedVersion
- Published
- 2020