(CADASIL)常染色体显性遗传病合并皮质下梗死和白质脑病

Bang

A 43-year-old man with cognitive dysfunction.

男性，43岁，认知功能障碍

Findings

Extensive white matter fluid-attenuated inversion-recovery (FLAIR) signal abnormality affecting the bilateral cerebral hemispheres with involvement of the bifrontal lobes and temporal lobes

FLAIR示双侧额叶、颞叶多发异常信号。

No restricted diffusion or abnormal enhancement or masses in the regions of signal abnormality

病灶无扩散受限、增强不强化，未见明显肿块。

Bilateral chronic basal ganglia infarcts

双侧基底节区陈旧性梗塞。

Young age

发病年龄较年轻。

Diagnosis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

常染色体显性遗传病合并皮质下梗死和白质脑病

Key Point

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.

CADASIL是一种常染色体显性遗传病，为19号染色体的Notch3基因突变所致，引起大脑动脉及软脑膜动脉病变。

Imaging Findings

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.

T2WI/FLAIR序列脑白质弥漫性高信号。这种改变出现的年龄一般在30岁左右，比中风或TIA早了10-15年。

Involvement of the anterior temporal pole and paramedian frontal lobes is both highly specific and sensitive for CADASIL.

累及颞极和中央前回对CADASIL有较高的敏感性和特异性。

Lacunar infarcts occur traditionally in the basal ganglia > frontal lobe > parietal lobe > anterior temporal pole.

腔隙性脑梗塞好发部位：基底节区＞额叶＞顶叶＞颞极

The cerebral cortex is spared.

大脑皮层一般不受累

Diffusion restriction occurs in acute/subacute infarcts

扩散受限见于急性/亚急性期梗塞

Cerebral angiogram is normal.

脑血管造影一般无明显异常显示

Clinical History

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.

19号染色体NOTCH3基因突变引起的小血管病变，易引起中青年发生中风。该病无明显性别差异。

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.

主要症状包括TIA和中风（常见），以及有或无征兆的偏头痛，逐渐进展可发展为认知功能障碍、行为异常、癫痫。偏头痛一般比其他临床症状出现早。

No targeted therapy.

没有针对性治疗

Take-home Point

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.

年轻患者，发现大脑白质病变，特别是没有脑血管病变病史、放化疗病史及免疫功能低下者，需要考虑CADASIL

Differential Diagnosis

Chronic small-vessel disease: Seen in older patients (usually older than age 60).

慢性小血管病变：多见于60岁以上老年人

Progressive multifocal leukoencephalopathy: Immunocompromised patients.

进行性多灶性脑白质营养不良：多见于免疫功能低下者。

HIV encephalitis: Will have white-matter changes, but will also have diffuse cerebral atrophy.

HIV脑炎：可有脑白质改变，但通常有弥漫性脑萎缩。

Demyelinating disease: Clinical history and cerebral spinal fluid sampling (oligoclonal bands in multiple sclerosis).

脱髓鞘疾病：临床病史及脑脊液穿刺

Radiation therapy: Clinical history needed.

放疗后改变：需有特定病史。