Clinical characteristics analysis of two Chinese siblings with Susac syndrome and literature review
10.3760/cma.j.cn101070-20241210-00832
- VernacularTitle:兄妹共患Susac综合征临床特征分析并文献复习
- Author:
Hui DONG
1
;
Yulan LI
;
Xiaoli XU
;
Shulei LIU
;
Shuyi LIU
;
Han XIE
;
Yuan WU
;
Xingzhi CHANG
;
Jing ZHANG
;
Chen XING
;
Chunying GUO
;
Jun WANG
;
Ye WU
;
Xinhua BAO
Author Information
1. 北京大学第一医院儿童医学中心，北京 102627
- Publication Type:Journal Article
- Keywords:
Encephalopathy;
Retinopathy;
Susac syndrome;
Autoimmune microangiopathy;
Hearing loss
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(11):856-860
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical manifestation, therapy, and prognosis of Susac syndrome and enhance the understanding of this disease.Methods:A case summary was made.The clinical data of two siblings with Susac syndrome treated at Children′s Medical Center, Peking University First Hospital in January 2024 were summarized.Reported cases of pediatric Susac syndrome were reviewed.Results:The onset of the disease in the two siblings was at the age of 3.00 and 6.75 years, with recurrent headaches, tinnitus, hearing loss and encephalopathy symptoms.Cranial magnetic resonance imaging showed multiple cerebral microbleeding and microinfarction lesions, " snowball like" in the corpus callosum and diffuse white matter edema in the brain.Audiometry revealed sensorineural hearing loss.In one case, ophthalmic fluorescein angiography revealed ischemic changes due to branch retinal artery occlusions.No pathogenic variants were detected in gene testing.This child was diagnosed with Susac syndrome, and the symptoms were improved after treatment with Corticosteroids and Rituximab.No relapse was observed during the 9-month follow-up.A total of 20 pediatric cases of Susac syndrome were retrieved, including 18 reported previously and 2 cases from this study.There were 2 boys and 18 girls, with the age of onset ranging from 2.5 to 17.0 years.The common initial symptoms included headache (19 cases), vertigo and tinnitus or hearing loss (9 cases), and vision impairment or visual field defect (4 cases). The symptoms were improved after immunotherapy.Conclusions:With a low incidence, Susac syndrome is rare in children and difficult to diagnose.There may be a genetic predisposition in such disease.Early diagnosis and immunotherapy can low the relapse and improve the prognosis.
