Zhang Shen, Zhang Weihua, Ding Changhong, Ren Xiaotun, Fang Fang, Wu Yun
Department of Neurology Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
Pediatr Investig. 2024 May 30;8(3):193-200. doi: 10.1002/ped4.12428. eCollection 2024 Sep.
Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited.
To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese population.
Clinical features and neuroimaging results of the patients diagnosed with AGS from Beijing Children's Hospital between January 2018 and January 2022 were collected. Whole exome sequencing was used for genetic analysis.
A total of 15 patients was included, all presenting with various neurological symptoms, including developmental delay (100%), motor skill impairment (100%), language disability (78.6%), dystonia (93.3%), microcephaly (73.3%), sleep disorders (26.7%), regression (20.0%), vessel disease (6.7%), and epilepsy (6.7%). Neuroimaging revealed intracranial calcification (86.7%), cerebral atrophy (73.3%), and leukodystrophy (73.3%). Seven genes were identified, with being the most common (40.0%, 6/15), followed by (20.0%, 3/15). Variant c.294dupA (p.C99Mfs*3) was detected in four unrelated patients, accounting for 66.7% (4/6) patients with the variant. A literature review showed that gene mutations in 35.6% (21/59) of AGS patients among the Chinese population.
Neurological symptoms are the most prevalent and severe presentation of AGS. Diagnosis may be considered when symptoms such as developmental delay, dystonia, microcephaly, brain calcification, and leukodystrophy emerge. mutations are predominant in the Chinese population.
艾卡迪-古铁雷斯综合征（AGS）是一种罕见的遗传性疾病，主要影响中枢神经系统和自身免疫。然而，针对中国患者的AGS研究有限。
总结儿童AGS患者的神经表型和遗传病因，为中国人群的早期识别和诊断提供见解。
收集2018年1月至2022年1月在北京儿童医院被诊断为AGS的患者的临床特征和神经影像学结果。采用全外显子组测序进行遗传分析。
共纳入15例患者，均表现出各种神经症状，包括发育迟缓（100%）、运动技能障碍（100%）、语言障碍（78.6%）、肌张力障碍（93.3%）、小头畸形（73.3%）、睡眠障碍（26.7%）、倒退（20.0%）、血管疾病（6.7%）和癫痫（6.7%）。神经影像学显示颅内钙化（86.7%）、脑萎缩（73.3%）和脑白质营养不良（73.3%）。鉴定出7个基因，其中 最为常见（40.0%，6/15），其次是 （20.0%，3/15）。在4例无亲缘关系的患者中检测到变异c.294dupA（p.C99Mfs*3），占 变异患者的66.7%（4/6）。文献综述显示，中国人群中35.6%（21/59）的AGS患者存在 基因突变。
神经症状是AGS最常见和最严重的表现。当出现发育迟缓、肌张力障碍、小头畸形、脑钙化和脑白质营养不良等症状时，可考虑诊断。 突变在中国人群中占主导地位。
