中文摘要：

目的总结1例HtrA丝氨酸肽酶1（HTRA1）基因新突变导致的常染色体隐性遗传性脑动脉病伴皮质下梗死及白质脑病（CARASIL）患者临床特点。方法患者为34岁女性，下肢肌肉痉挛疼痛16年，腰痛、头痛、脱发5年，右侧轻偏瘫5个月，尿、便潴留1个月。脊椎MRI示颈椎和腰椎退行性变和椎间盘突出。头MRI示广泛脑白质损害、多发腔隙性梗死灶。患者进行腓肠神经和皮肤活体组织检查。患者及其父母和2个弟弟均进行了HTRA1基因的直接测序，患者进行Notch3基因直接测序，以100名健康者作为对照。结果光镜下可见小动脉内弹力板不连续和内膜增厚，毛细血管基底膜增厚，电镜下呈现细颗粒样改变。患者HTRA1基因第2号外显子存在c．524T〉A纯合突变，其父母及2个弟弟存在c．524T〉A杂合突变。未发现Notch3基因突变。100名健康对照无此突变。结论HTRA1基因c．524T〉A新突变导致的CARASIL可以伴随偏头痛和尿、便潴留。

英文摘要：

Objective To report a novel HTRA1 gene mutation caused cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy （CARASIL） with migraine, urinary retention and constipation. Methods The patient was a 34-year-old woman who suffered from myalgia with cramp for 16 years, lumbago for 5 years, migraine and mild alopeeia for 3 years, right hemiparesis for 5 months, and urinary retention and constipation for 1 month. Vertebral MRI showed degeneration of vertebral bodies with disc herniations. Brain MRI revealed diffuse white matter lesions and lacunar infarcts. Sural nerve and skin biopsies were performed in the patient. HTRA1 gene analysis was performed in patient, her parents and 2 brothers, and Notch3 gene analysis in the patient. Results The sural biopsy demonstrated discontinuous of elastiea internal with thickness of intima of arterioles. The capillary basement membranes were thickness with mini granular changes. A homozygous T to A transition at position 524（ c. 524T 〉 A） was found in HTRA1 gene. The heterozygous c. 524T 〉 A mutation appeared in the parents and 2 brothers, but not in the controls. Notch3 mutations were not found in the patient. Conclusion CARASIL caused by novel homozygous c. 524T 〉 A mutation of HTRA1 gene can present with migraine, urinary retention and constipation.