CADASIL 综合征全称为脑自体显性动脉病变伴皮层下梗死和白质脑病，是一种影响大脑血管的遗传性疾病。该疾病由 NOTCH3 基因的突变引起，该基因参与血管的调控和发展。患者可能会经历一系列症状，包括偏头痛、类中风发作、情绪波动和认知能力下降。病情会逐渐恶化，随着时间的推移导致更严重的神经系统损伤。通常通过基因检测、显示特征性脑损伤的 MRI 扫描和有时的皮肤活检来确认诊断。

为了鉴别诊断CADASIL综合征（脑常染色体显性动脉病变伴皮质下梗死和白质脑病），需要综合运用患者信息和各种诊断测试。以下是详细的分解：

患者信息和症状
• 家族史：记录年轻时中风或痴呆的家族史至关重要，因为CADASIL是遗传性的。
• 症状：关键症状包括有先兆的偏头痛、反复的类中风发作、情绪障碍和逐渐加重的认知衰退。

病史
• 神经事件：偏头痛、短暂性脑缺血发作（TIA）或中风的历史。
• 精神疾病：抑郁症或其他情绪障碍，这在CADASIL患者中很常见。

体检
• 神经系统检查可能揭示：
• 认知功能障碍的迹象。
• 局部神经功能缺失。

诊断测试
1. MRI（磁共振成像）：
• MRI扫描通常显示出白质病变，尤其是在前颞叶极和外囊，这对于CADASIL是特征性的。
2. 基因检测：
• 第19号染色体上的NOTCH3基因的突变分析，如果存在突变，则诊断为CADASIL。
3. 皮肤活检：
• 用于观察小动脉中颗粒状渗透性物质（GOM）的积累，这是CADASIL的一个标志。
4. 其他神经影像学：
• 可能使用CT或PET等其他扫描来进一步评估脑结构和功能。

额外考虑
• 血液测试：排除可能模仿CADASIL症状的其他条件，如多发性硬化症或系统性血管炎。
• 心理评估：评估认知功能和任何精神状况。

这些组成部分共同帮助准确诊断CADASIL，将其与具有类似表现的其他可能的神经系统疾病区分开来。

CADASIL 综合症，即脑自体显性动脉病伴皮层下梗死和白质脑病，是一种影响大脑血管的遗传性疾病。以下是从病史采集、体检和诊断测试中得到的具体结果：
1. 病史采集:
• 年轻时患有中风或痴呆的家族史。
• 有先兆偏头痛的报告。
• 情绪障碍或精神疾病史。
• 常从中年开始的认知功能逐渐下降。
2. 体检:
• 神经学检查可能显示认知损害迹象，如记忆和执行功能问题。
• 未见典型心血管风险因素的类中风发作证据。
• 根据受影响的大脑区域可能检测到局部神经功能缺损。
3. 诊断测试:
• 磁共振成像（MRI）: 通常显示多个皮层下梗死、白质异常和白质疏松（白质变性）的证据。
• 基因检测: 检测 NOTCH3 基因的突变，这是诊断 CADASIL 的标志。
• 皮肤活检: 电镜下检查可以发现小血管壁中颗粒状密集物质（GOM）的积聚。

这些发现共同帮助诊断 CADASIL 并将其与症状相似的其他条件区分开来。

鉴别诊断医疗记录示例 - CADASIL 综合征

病人资料：
• 年龄：45岁
• 性别：男
症状：
• 反复中风和短暂性脑缺血发作（TIA）
• 具有先兆的偏头痛
• 情绪不稳，包括抑郁症发作
• 认知能力逐渐下降
病史：
• 家族中有中风和痴呆症的历史
• 以前诊断为高血压
体格检查：
• 神经系统检查显示右侧轻微运动障碍。
• 心脏和呼吸检查未见异常。
诊断测试：
• 大脑MRI显示多个皮质下梗死和白质脑病。
• 遗传测试确认NOTCH3基因突变，与CADASIL相符。

CADASIL综合征，即脑自体显性动脉病伴皮层下梗塞和白质脑病，是一种遗传性疾病，由于大脑中的血管壁增厚，导致中风和其他神经系统损害。例如，典型的病例可能是一位45岁的患者，他有偏头痛的病史，并且近期出现记忆障碍。神经系统检查可能显示轻度认知障碍，MRI扫描通常显示多个小的皮层下梗死和广泛的白质异常。通过基因检测确诊，检测结果显示NOTCH3基因的突变。这位患者可能有类似症状的家族病史，反映出这种病的遗传性质。

CADASIL Syndrome, which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a genetic disorder that affects the blood vessels in the brain. It is caused by mutations in the NOTCH3 gene, which is involved in the regulation and development of blood vessels. People with CADASIL may experience a range of symptoms, including migraines, stroke-like episodes, mood disturbances, and cognitive decline. The disease progressively worsens, leading to more severe neurological damage over time. Diagnosis is typically confirmed through genetic testing, MRI scans showing characteristic brain lesions, and sometimes skin biopsy.

To differentially diagnose CADASIL Syndrome (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a comprehensive approach involving patient information and various diagnostic tests is required. Here’s a detailed breakdown:

Patient Information and Symptoms
• Family History: Documenting a family history of stroke or dementia at a young age is crucial due to the hereditary nature of CADASIL.
• Symptoms: Key symptoms include migraine with aura, recurrent stroke-like episodes, mood disturbances, and progressive cognitive decline.

Medical History
• Neurological Events: History of migraines, transient ischemic attacks (TIAs), or strokes.
• Psychiatric Disorders: Depression or other mood disorders, which are common in CADASIL patients.

Physical Exam
• A neurological examination can reveal:
• Signs of cognitive dysfunction.
• Focal neurological deficits.

Diagnostic Tests
1. MRI (Magnetic Resonance Imaging):
• MRI scans typically show white matter lesions, particularly in the anterior temporal pole and external capsule, which are distinctive for CADASIL.
2. Genetic Testing:
• Mutation analysis of the NOTCH3 gene on chromosome 19, which is diagnostic of CADASIL when mutations are present.
3. Skin Biopsy:
• Used to observe the accumulation of granular osmiophilic material (GOM) in the arterioles, which is a hallmark of CADASIL.
4. Other Neuroimaging:
• Additional scans like CT or PET might be used for further evaluation of brain structure and function.

Additional Considerations
• Blood Tests: To rule out other conditions that can mimic CADASIL symptoms, such as multiple sclerosis or systemic vasculitides.
• Psychological Evaluation: To assess cognitive function and any psychiatric conditions.

These components collectively help in accurately diagnosing CADASIL, distinguishing it from other possible neurological disorders with similar presentations.

CADASIL Syndrome, which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a genetic disorder that affects the blood vessels in the brain. Here are the specific results from medical history taking, physical examinations, and diagnostic tests:
1. Medical History Taking:
• Family history of stroke or dementia at a young age.
• Reports of migraine with aura.
• History of mood disturbances or psychiatric disorders.
• Progressive decline in cognitive function, often starting in mid-adulthood.
2. Physical Examination:
• Neurological examination may reveal signs of cognitive impairment, such as problems with memory and executive functions.
• Evidence of stroke-like episodes without typical cardiovascular risk factors.
• Possible detection of focal neurological deficits depending on the brain areas affected.
3. Diagnostic Tests:
• MRI (Magnetic Resonance Imaging): Typically shows evidence of multiple subcortical infarcts, white matter abnormalities, and leukoaraiosis (changes in the white matter).
• Genetic Testing: Detection of mutations in the NOTCH3 gene, which is diagnostic of CADASIL.
• Skin Biopsy: Examination under electron microscopy can reveal the accumulation of granular osmiophilic material (GOM) in the walls of small blood vessels.

These findings collectively help in diagnosing CADASIL and differentiating it from other conditions with similar symptoms.

Medical Record Example for Differential Diagnosis - CADASIL Syndrome

Patient Details:
• Age: 45
• Sex: Male
Symptoms:
• Recurrent strokes and transient ischemic attacks (TIAs)
• Migraine with aura
• Mood disturbances, including episodes of depression
• Progressive cognitive decline
Medical History:
• Family history of strokes and dementia
• Previous diagnosis of hypertension
Physical Examination:
• Neurological examination shows mild motor deficit on the right side.
• No abnormalities in cardiac and respiratory examination.
Diagnostic Tests:
• MRI of the brain shows multiple subcortical infarcts and leukoencephalopathy.
• Genetic testing confirms mutations in the NOTCH3 gene, consistent with CADASIL.

CADASIL Syndrome, or Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a genetic disorder that leads to stroke and other neurological impairments due to the thickening of blood vessel walls in the brain. For instance, a typical patient might be a 45-year-old individual who presents with a history of migraine headaches and recent memory disturbances. Neurological examinations may reveal mild cognitive impairment, and MRI scans often show evidence of multiple small subcortical infarcts and extensive white matter abnormalities. The diagnosis is confirmed by genetic testing, which identifies a mutation in the NOTCH3 gene. This patient would likely have a family history of similar symptoms, reflecting the hereditary nature of the disease.