CADASIL（常染色体显性遗传病合并皮质下梗死和白质脑病)

Bang

年轻女性，复视、垂直性眼球震颤

CADASIL

(Cerebral Autosomal Dominant Arteriopathy with

Subcortical Infarcts and Leukoencephalopathy)

常染色体显性遗传病合并皮质下梗死和白质脑病

影像表现：

Axial T2WI (A, B) and coronal/axial FLAIR (C, D) show extensive white matter signal abnormality with chronic subcortical infarcts and tiny chronic microhemorrhages on SWI (E). The cortex appears spared. ADC map (F) does not demonstrate hypointensity to suggest restricted diffusion or acute infarct. Note the involvement of the white matter at bilateral anterior temporal poles and superior paramedian frontal lobes (marked by arrows).

横断位T2WI和冠状位/横断位FLAIR示白质多发异常信号，及皮层下陈旧性脑梗塞。SWI可见微小的慢性出血灶。ADC图未见明显低信号，提示无明显弥散受限或急性期脑梗塞。

值得注意的是，病变范围主要是在双侧颞叶前部和额叶上部、靠近中央区的白质区。

背景

Rare hereditary cause of infarcts in younger patients

可引起年轻人脑梗塞的罕见的遗传性疾病

Small-vessel disease due to progressive degeneration of the smooth muscle cells in blood vessels

血管壁的平滑肌细胞渐进性退行性变导致的小血管病

Causative agent of degeneration is mutation in the NOTCH3 gene at the short arm of chromosome 19

其病因是19号染色体短臂的NOTCH3基因突变

Prudent to exclude traditional risk factors of stroke and migraines, because CADASIL patients may present with migraine aura.

CADASIL可表现为先兆偏头痛，诊断时需谨慎排除可引起脑卒中和偏头痛的其他传统病因。

Generally, the cerebral cortex is spared, and subcortical lacunar infarcts are accompanied by abnormal white matter (WM).

一般来说，皮层下腔隙性脑梗塞伴有脑白质异常，而大脑皮层无受累。

临床表现

Clinical presentation may vary.

临床表现多种多样。

Typical presentation is migraine with aura or transient weakness or focal neurologic deficit

典型表现先兆偏头痛、一过性肢体无力、或局灶性神经功能缺损

影像诊断要点

Characteristic subcortical lacunar infarcts on background of chronic microangiopathic ischemic changes

典型表现为慢性微血管缺血改变伴皮层下腔隙性脑梗塞

White matter of the anterior temporal poles and superior paramedian bilateral frontal lobes are characteristically affected.

颞叶前部和额叶上部、靠近中央区域的脑白质是CADASIL的典型发病部位。

鉴别诊断

MELAS: Often bilateral, symmetric, cortical, and subcortical involvement

线粒体肌脑病：一般双侧对称性发病，可累及皮层和皮层下。

CNS vasculitis: DSA or CTA will demonstrate vascular abnormalities.

CNS血管炎：DSA或CTA可显示血管异常。

Chronic hypertension: Diffuse leukoencephalopathy with microhemorrhages (basal ganglia, pons, cerebellum)

慢性高血压：弥漫性脑白质病伴微出血（基底节区、脑桥、小脑）

Amyloid angiopathy: Diffuse leukoencephalopathy with macro/microhemorrhages centered at the cortical/subcortical junction, with sparing of the brain stem

淀粉样脑血管病：弥漫性脑白质病伴灰白质交界区的出血或微出血，脑干一般无受累。

治疗

No specific treatment

无特殊治疗

Antiplatelet medications may help prevent further strokes.

抗血小板药物可有助于降低脑卒中风险