| Objectives:The purpose of this paper is to report two CADASIL cases from Gansu Province and provide a review of the related literatures about the clinical features of CADASIL to promote the understanding of this disease, so as to reduce the rate of misdiagnosis and missed diagnosis. And early diagnosis, treatment and nursing can improve the patient’s quality of life.Materials and methods:Two cases of CADASIL were reported, who were admitted to the Second Hospital of Lanzhou University. And 71 cases of CADASIL patients were retrieved in the CNIK, Weipu and Wanfang database by using the keywords “cerebral autosomal dominat arteriopathy with subcortical infarcts and leukoencephalopathy” and “CADASIL”(The deadline is December 2015). The onset ages, clinical symptoms, brain vascular risk factors, laboratory examination, imaging findings, CADASIL scale, pathologic examination and gene data of 73 cases were analyzed.Results:⑴ Case report, the proband was a 43-year-old Chinese man, who was admitted to the Second Hospital of Lanzhou University because of weakness of the right limbs and glossolalia for 4 months, the patient had experienced recurrent ischemic stroke during 7 years, without other known arteriosclerosis risk factors(such as hypertension, diabetes, hypercholesteremia and hyperlipidemia, etc.); Brain MRI scan showed extensive damage to bilateral supratentorial white matter, temporal lobe basal ganglia and cerebral ventricle by corona radiata with presence of multiple ischaemic infarcts; the score of CADASIL Scale was 15; the pathological biopsy indicated the Granular Eleetron Dense Osmiophilie Material(GOM); mutational analysis uncovered a missense mutation on exon4 of the NOTCH3 gene. His brother had suffered from migraine with aura at age 13,recurrent ischemic stroke,memory decline and irritableness were his main clinical manifestations, CT revealed subcortical arteriosclerosis encephalopathy, multiple lacunar infarct involving the cerebral ventricles bilaterally and atrophy; the score of CADASIL Scale was 17; the mutation of NOTCH3 gene was also on exon4; he had died of lung infection at the age of 47.⑵Literature review, 73 cases of CADASIL patients were recorded, including 39(53.42%) males and 34(46.58%) females. The mean onset age was 39.26±11.54 years old, the men’s average onset age was 36.89±10.00 years old and was 41.85±12.66 years old of women. Among 73 cases, 68 cases(93.15%) were not with traditional brain vascular risk factors,the clear family history was found in 60 cases(82.19%). Stroke, cognitive impairment, migraine, psychiatric symptoms, seizures, hearing disorder, acute disorders of consciousness were common clinical manifestation of 50(68.49%),33(45.21%),23(31.51%),15(20.55%),2(2.74%),1(1.37%),1(1.37%)patients respectively, while 3(4.11%) patients were without any clinical symptoms. The main lesion areas of brain MRI among 70 cases were basal ganglion(58.57%), followed by temporal lobe(32.86%),frontal lobe(28.57%),parietal lobe(25.71%),corona radiata(24.29%),brainstem(22.86%),centrum semiovale(21.43%),ventricles(17.14%),thalamus(12.86%),capsula externa(10%),occipital lobe(8.57%), callosum(4.29%), cerebellum(2.86%), gyrus cinguli(1.43%), insular lobe(1.43%), U-fibers(1.43%),pedunculus cerebri(1.43%). 50 cases were diagnosed by pathological examination, 49 cases was confirmed by genetic testing, and 24 cases were diagnosed by pathology and genetics, among the 24 cases, 2 cases whose pathology were negative with NOTCH3 gene mutation. Among 49 cases, exons 4, 3, 11, 14, 18 and intron 3 were mutational sites of 25(51.02%),15(30.61%),6(12.24%),1(2.04%),1(2.04%)and 1(2.04%)cases respectively.Conclusions:1. In China, CADASIL patients are characterized by middle-age onset, definite family history, without common cerebrovascular risk factors, stroke, cognitive decline and dementia are the most common clinical manifestation; MRI images include multiple lacunar infarcts and diffuse leukoencephalopathy, which frequently involves the basal ganglion, temporal lobe, frontal and parietal lobe.2. The CADASIL scale is a simple and sufficiently accurate screening tool for clinical diagnosis.3. The final diagnosis of CADASIL depends on pathological examination or(and) genetic testing, and they have high consistency. Clinicians usually use skin muscle biopsy instead of brain tissue.4. CADASIL is caused by stereotyped mutations of the NOTCH3 gene located on chromosome 19, exons4, 3 and 11 may be the hotspots of mutation of NOTCH3 in China.5. At present, CADASIL is a special kind of autosomal dominant hereditary cerebrovascular disease, it has no specific treatment and poor prognosis. |
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