<h3>A 43-year-old man with cognitive dysfunction.</h3><h3>男性，43歲，認(rèn)知功能障礙</h3> <h3>Findings</h3><h3>Extensive white matter fluid-attenuated inversion-recovery (FLAIR) signal abnormality affecting the bilateral cerebral hemispheres with involvement of the bifrontal lobes and temporal lobes</h3><h3>FLAIR示雙側(cè)額葉、顳葉多發(fā)異常信號。</h3><h3>No restricted diffusion or abnormal enhancement or masses in the regions of signal abnormality</h3><h3>病灶無擴(kuò)散受限、增強(qiáng)不強(qiáng)化，未見明顯腫塊。</h3><h3>Bilateral chronic basal ganglia infarcts</h3><h3>雙側(cè)基底節(jié)區(qū)陳舊性梗塞。</h3><h3>Young age</h3><h3>發(fā)病年齡較年輕。</h3> <h3>Diagnosis</h3><h3>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)</h3><h3>常染色體顯性遺傳病合并皮質(zhì)下梗死和白質(zhì)腦病</h3><h3>Key Point</h3><h3>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant disease with mutation in NOTCH3 that results in arteriopathy affecting penetrating cerebral and leptomeningeal arteries.</h3><h3>CADASIL是一種常染色體顯性遺傳病，為19號染色體的Notch3基因突變所致，引起大腦動脈及軟腦膜動脈病變。</h3><h3>Imaging Findings</h3><h3>Diffuse white-matter hyperintensities on FLAIR/T2-weighted sequences. MR changes appear at average age of 30 years and precede stroke/transient ischemic attack (TIA) by 10 to 15 years.</h3><h3>T2WI/FLAIR序列腦白質(zhì)彌漫性高信號。這種改變出現(xiàn)的年齡一般在30歲左右，比中風(fēng)或TIA早了10-15年。</h3><h3>Involvement of the anterior temporal pole and paramedian frontal lobes is both highly specific and sensitive for CADASIL.</h3><h3>累及顳極和中央前回對CADASIL有較高的敏感性和特異性。</h3><h3>Lacunar infarcts occur traditionally in the basal ganglia > frontal lobe > parietal lobe > anterior temporal pole.</h3><h3>腔隙性腦梗塞好發(fā)部位：基底節(jié)區(qū)＞額葉＞頂葉＞顳極</h3><h3>The cerebral cortex is spared.</h3><h3>大腦皮層一般不受累</h3><h3>Diffusion restriction occurs in acute/subacute infarcts</h3><h3>擴(kuò)散受限見于急性/亞急性期梗塞</h3><h3>Cerebral angiogram is normal.</h3><h3>腦血管造影一般無明顯異常顯示</h3><h3>Clinical History</h3><h3>Hereditary small-vessel disease due to mutations in NOTCH3 gene on chromosome 19, which causes stroke in young to middle-aged adults. No gender preference.</h3><h3>19號染色體NOTCH3基因突變引起的小血管病變，易引起中青年發(fā)生中風(fēng)。該病無明顯性別差異。</h3><h3>Symptoms include TIA/stroke (most common) and migraines with/without aura.Findings can progress to cognitive deficits, behavioral problems, and seizures. Migraines often precede other clinical findings.</h3><h3>主要癥狀包括TIA和中風(fēng)（常見），以及有或無征兆的偏頭痛，逐漸進(jìn)展可發(fā)展為認(rèn)知功能障礙、行為異常、癲癇。偏頭痛一般比其他臨床癥狀出現(xiàn)早。</h3><h3>No targeted therapy.</h3><h3>沒有針對性治療</h3><h3>Take-home Point</h3><h3>Consider CADASIL in a young patient with cerebral white-matter disease, especially when there is no history of vascular disease, radiation/chemotherapy, demyelinating disease, and/or immunocompromised state.</h3><h3>年輕患者，發(fā)現(xiàn)大腦白質(zhì)病變，特別是沒有腦血管病變病史、放化療病史及免疫功能低下者，需要考慮CADASIL</h3><h3>Differential Diagnosis</h3><h3>Chronic small-vessel disease: Seen in older patients (usually older than age 60).</h3><h3>慢性小血管病變：多見于60歲以上老年人</h3><h3>Progressive multifocal leukoencephalopathy: Immunocompromised patients.</h3><h3>進(jìn)行性多灶性腦白質(zhì)營養(yǎng)不良：多見于免疫功能低下者。</h3><h3>HIV encephalitis: Will have white-matter changes, but will also have diffuse cerebral atrophy.</h3><h3>HIV腦炎：可有腦白質(zhì)改變，但通常有彌漫性腦萎縮。</h3><h3>Demyelinating disease: Clinical history and cerebral spinal fluid sampling (oligoclonal bands in multiple sclerosis).</h3><h3>脫髓鞘疾病：臨床病史及腦脊液穿刺</h3><h3>Radiation therapy: Clinical history needed.</h3><h3>放療后改變：需有特定病史。</h3>