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目的总结分析1例伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病。方法回顾性分析本院收治的1例常染色体显性遗传性脑动脉病(CADASIL)的临床资料,分析患者临床表现、家庭史,并给予相应的实验室检查、影像学检查。结果患者表现为反复发生的短暂性脑缺血性发作;实验室检查:ALT(45U/L)、TG(1.87mmol/L)、HCY(26.9umol/L)、Ig A(419mg/d L)、血小板聚集率(82.0%),其余各指标大致正常;典型头颅MRI表现为皮质下梗死和白质脑病。结论伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)诊断应结合家族史、临床表现、实验室指标、头颅MRI等几个方面综合考虑。
Objective To summarize and analyze one case of autosomal dominant cerebral arterial disease with subcortical infarction and leukoencephalopathy. Methods The clinical data of one case with autosomal dominant cerebral artery disease (CADASIL) admitted to our hospital were retrospectively analyzed. The clinical manifestations and family history of the patients were analyzed. The corresponding laboratory tests and imaging tests were also performed. Results The patients showed recurrent transient ischemic attacks. The laboratory tests included ALT (45U / L), TG (1.87mmol / L), HCY (26.9umol / L) and IgA (419mg / dL) , Platelet aggregation rate (82.0%), the rest of the indicators are generally normal; typical skull MRI showed subcortical infarction and leukoencephalopathy. Conclusion The diagnosis of autosomal dominant cerebral artery disease (CADASIL) accompanied by subcortical infarction and leukoencephalopathy should be considered in combination with family history, clinical manifestations, laboratory parameters and cranial MRI.