20xx年醫(yī)學專題—cadasil--病例分享及文獻復習-資料下載頁
2024-11-04 12:59本頁面
【正文】 )平滑肌的藥物，如鈣離子拮抗劑，無效或加重病情的發(fā)展。,第五十三頁，共六十一頁。,Summary,The diagnosis of CADASIL is established clinically: (1) develops the condition at a relatively young age (4050 years)。 (2) is not at risk for stroke。 (3) has repeated attacks of lacunar infarction with gradual progression to pseudobulbar paralysis and dementia。 (4) has other family members with similar symptoms.,第五十四頁，共六十一頁。,The diagnosis is also established by imaging and laboratory studies if: MRI reveals leukoaraiosis and multiple small infarcts in the deep white matter, basal ganglia, thalamus, and pons, with hyperintensities of the temporal pole and external capsule bilaterally。 electron microscopy demonstrates granular osmiophilic material (GOM) around vascular smooth muscles in the brain, skeletal muscle, and skin。 DNA analysis shows notch3 mutations.,Summary,第五十五頁，共六十一頁。,When to Suspect CADASIL,Recurrent subcortical ischemic strokes Esp. 60 yrs old Esp. in absence of vascular risk factors Early cognitive decline Migraine with aura Comorbid psychiatric symptoms Depression Bipolar,第五十六頁，共六十一頁。,When to Suspect CADASIL,Abnormal MRI Significant white matter lesions before age 35 Multiple T2 hyperintensities w/o vascular risk factors Bilateral T2 hyperintensities in white matter, esp. w/lesions in ant. Temporal poles Family history Stroke, dementia, depression, migraine w/aura, other white matter diseases (which may be misdiagnosed) Premature CAD,第五十七頁，共六十一頁。,卒中危險(wēixiǎn)因素,血脂、血糖、特殊(t232。shū)脂蛋白、凝血功能和免疫功能方面均未找到異常。 個別患者也可以存在高血壓的表現(xiàn)和長期飲酒等危險因素。,第五十八頁，共六十一頁。,CADASIL診斷(zhěndu224。n)流程,第五十九頁，共六十一頁。,致 謝,致謝(zh236。 xi232。),第六十頁，共六十一頁。,內(nèi)容(n232。ir243。ng)總結,CADASIL病例報道及文獻復習。4.腦MRA檢查腦動脈主干及大分支未見明顯狹窄及擴張。偏頭痛：高加索患者常有偏頭痛發(fā)作。癲癇：少見，有報道一個法國家系45名患者中有3例為癲癇大發(fā)作。一個意大利家庭并無CADASIL典型表現(xiàn)，僅以癲癇發(fā)作為主要表現(xiàn)。多發(fā)性硬化多在青春期或成年早期分散(fēns224。n)發(fā)病, 病程進行性加重或出現(xiàn)緩解復發(fā)。我國患者多出現(xiàn)視神經(jīng)和脊髓損害, 這些部位的損害在CADASIL非常罕見。致謝,第六十一頁，共六十一
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