Pediatric stroke with Aicardi-Goutières syndrome: a case report
10.3760/cma.j.cn113694-20220209-00089
- VernacularTitle:以脑梗死为临床表现的Aicardi-Goutières综合征1例
- Author:
Yuanyuan LI
1
;
Mingxia LI
;
Qianru YANG
;
Hong LIN
;
Jianjun LI
;
Ying LI
;
Fangfang GE
Author Information
1. 西安国际医学中心医院神经内科，西安710100
- Keywords:
Brain infarction;
Interferon type Ⅰ;
Child;
Chilblains;
Aicardi-Goutières syndrome
- From:
Chinese Journal of Neurology
2022;55(9):1008-1012
- CountryChina
- Language:Chinese
-
Abstract:
The clinical, imaging, genetic, therapeutic and prognostic features of a case of pediatric stroke who was finally diagnosed with Aicardi-Goutières syndrome (AGS) in Xi′an International Medical Center Hospital on October 24, 2021 were reported. A 10-year-old boy was admitted to the hospital due to weakness of the right limb for more than 10 hours. The pre-hospital CT showed multiple patchy calcifications in the bilateral frontal lobe and the right parietal lobe cortex-medullary junction. The physical examination on admission had chilblains on the hands, feet and face. National Institutes of Health Stroke Scale Score was 4 points. Brain magnetic resonance imaging showed acute brainstem infarction, no abnormality in magnetic resonance angiography, ultrasound and electrocardiogram of heart and neck vessels were normal, cerebrospinal fluid biochemistry and routine examination were normal, blood routine, biochemistry, coagulation, autoantibody series, thyroid function, tumor markers, human immunodeficiency virus and syphilis examinations were normal. After oral administration of aspirin anti-platelet aggregation and rehabilitation exercises, the muscle strength returned to normal and the patient was discharged. One month later, the result of genetic testing was reported as AGS caused by TREX1 gene mutation, and the mutation site is c.58G>A. AGS is a rare autoimmune hereditary encephalopathy with a large heterogeneity of clinical manifestations. When a hereditary disease was suspected, genetic testing should be done.
