Videira Gonçalo, Malaquias Maria João, Laranjinha Inês, Martins Ricardo, Taipa Ricardo, Magalhães Marina
Neurology Department Centro Hospitalar Universitário do Porto Porto Portugal.
Neuroradiology Department Centro Hospitalar Universitário do Porto Porto Portugal.
Mov Disord Clin Pract. 2020 Feb 17;7(3):303-307. doi: 10.1002/mdc3.12903. eCollection 2020 Apr.
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.
AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed.
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 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.
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 mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.
艾卡迪 - 古铁雷斯综合征（AGS）是一种遗传性疾病，表现为早发性脑病、全身性肌张力障碍、痉挛和认知障碍。由于从婴儿期起临床病程似乎呈静止状态，成人的诊断可能会很困难。
对一家成人运动障碍门诊的AGS患者进行回顾性分析。
共确定了来自3个不同家庭的5例患者和1例无症状携带者。所有患者在该基因的第7外显子中均有纯合的c.529G>A、p.A177T突变。2例患者为新生儿期起病的AGS，2例为晚发型，1例症状轻微。所有患者均在出现冻疮后于成年期被诊断出来，计算机断层扫描显示有基底节钙化。
AGS患者在精神运动发育和发病率方面具有明显的表型变异性。本系列包括1例无症状携带者和1例症状轻微的患者，两者均有纯合突变。计算机断层扫描（而非磁共振成像）显示的冻疮和基底节钙化是晚期诊断的重要线索。
