Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with initial symptom of isolated vertigo:A family case report and literature review
10.19845/j.cnki.zfysjjbzz.2023.0129
- VernacularTitle:以孤立性眩晕为首发症状的CADASIL一家系报告及文献复习
- Author:
Zhiye WANG
1
;
Yang LIU
1
Author Information
1. Department of Neurology,Nanjing Meishan Hospital,Nanjing 210039,China
- Publication Type:Journal Article
- Keywords:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;
Isolated vertigo
- From:
Journal of Apoplexy and Nervous Diseases
2023;40(6):549-552
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical data of a family diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL) with isolated vertigo as the initial symptom. Methods The clinical manifestations,imaging findings,pathology,genetic testing results,and CADASIL scale score of a patient with CADASIL were summarized,and a family investigation was conducted. Results The proband of this case experienced recurrent isolated vertigo and gradually developed emotional disorder. Cranial magnetic resonance imaging(MRI) FLAIR revealed extensive subcortical white matter degeneration in both hemispheres,characteristic abnormal hyperintensity in bilateral temporal poles and external capsules,abnormal hyperintensity in bilateral brainstems,and multiple lacunar infarctions in bilateral corona radiata and basal ganglia. The score of CADASIL scale was 16 points. Skin biopsy showed the deposition of electron-dense granular osmiophilic material around vascular smooth muscle. Genetic testing identified a heterozygous mutation of c. 1163G>A(p. C388Y) in the NOTCH3 gene. The elder sister of the proband also had isolated vertigo and was found to have the same mutation by genetic testing. The father and uncle of the proband died of cerebral infarction,while the aunt of the proband suffered from severe dementia,and all of them had experienced dizziness in the early stage. Conclusion CADASIL has clinical heterogeneity and can manifest as isolated vertigo. Abnormal signals in temporal poles and external capsules on cranial MRI have an important value in the diagnosis of this disease,while pathological examination is required to make a confirmed diagnosis,and genetic testing can further clarify the diagnosis and perform screening of other family members.
- Full text:202406161640498060Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with initial symptom of isolated vertigo_A family case report and literature review.pdf
