双语病例——白质消融性脑病
朗读老师：冯璐霏 诸暨市中心医院
翻译老师：朱芳梅 浙江省立同德医院
审校老师：姜春雷 青岛市第九人民医院
History and CT images
病史及CT图像
History: A 30-year-old woman presents with increasing episodes of seizures following a recent episode of fevers. Her medical history includes short stature, pubertal delay, progressive spastic ataxia with episodic deterioration, and epilepsy since childhood, which is concerning for mitochondrial dysfunction.
病史：30岁女性，最近一次发烧后癫痫发作频繁。其病史包括身材矮小、青春期发育迟缓、进行性痉挛性共济失调伴间歇性恶化、儿童期癫痫史，且与线粒体功能障碍相关。
A head CT scan was performed. Axial image is shown below. Click to enlarge.
患者进行了颅脑CT平扫检查。下面显示的是轴位图像。点击放大。
MR images
MR图像
A head MRI exam also was performed. Axial images are shown below. In order: T1-weighted, T2-weighted, fluid-attenuated inversion-recovery (FLAIR), postcontrast, and diffusion-weighted images and apparent diffusion coefficient (ADC) map.
患者进行了颅脑MR成像检查。下面显示的是轴位图像。依次为：T1WI，T2WI，FLAIR，增强，扩散加权图像(DWI)和表观扩散系数图(ADC)。
Additional MR images
Additional axial and coronal T1-weighted images are shown below.
轴位和冠状位T1WI如下所示。
Findings and diagnosis
结果和诊断
Findings
结果
CT: There is diffuse, severely decreased attenuation in white matter throughout the bilateral cerebral hemispheres and ventriculomegaly.
颅脑CT：双侧大脑半球白质弥漫性低信号，伴脑室扩大。
MRI: There is diffuse white-matter signal abnormality with marked increased T2 prolongation and partial signal suppression on FLAIR imaging. Diffuse cerebral and cerebellar atrophy with prominence of the ventricles. There is no abnormal diffusion restriction and no abnormal enhancement. Optic nerves appear atrophic.
MRI：T2像可见弥漫性白质高信号，FLAIR部分信号被抑制。弥漫性大脑和小脑萎缩，伴有脑室扩大。弥散未见受限，增强没有强化。视神经出现萎缩。
Differential diagnosis
鉴别诊断
· Vanishing white matter disease 白质消融性脑病
· Alexander disease 亚力山大病
· Canavan disease海绵状脑白质营养不良症
· Alpha-ketoglutarate dehydrogenase deficiency α -酮戊二酸脱氢酶缺乏
Diagnosis: Vanishing white matter disease (VWM)
诊断：白质消融性脑病
Discussion
讨论
Leukoencephalopathy with vanishing white matter disease (VWM)
伴有白质消融的脑白质病
Pathophysiology
病理生理学
Vanishing white matter disease, also known as childhood ataxia with central hypomyelination (CACH), is considered a subtype of the leukodystrophies. More than 90% of patients with this disease have a mutation in 1 of 5 genes, resulting in loss of function of a protein important for protein synthesis regulation. Inheritance is autosomal recessive. Research suggests this loss of regulation makes it difficult for cells to cope with stress, with white matter is particularly affected. As a result, episodes of stress such as infection/fever or head trauma can cause deterioration of white matter. While the diagnosis can be made with clinical exam and MRI features, confirmation with genetic testing is recommended.
白质消融性脑病，也称为儿童期共济失调伴中枢性髓鞘发育不良(CACH)，被认为是白质营养不良的一种亚型。超过90%的患者在5个基因中有1个发生突变，导致一种对蛋白质合成调节具有重要作用的蛋白质功能丧失。属于常染色体隐性遗传病。研究表明，这种调节能力的丧失使细胞难以应对压力，其中以白质受到的影响尤为严重。因此，感染/发烧或头部外伤等会导致脑白质恶化。尽管可以通过临床检查和MRI特征进行诊断，但通过基因检测进行确诊仍被推荐。
Epidemiology
流行病学
Vanishing white matter disease is a rare disease, with one estimate at 1 per 80,000 live births; however, the true incidence is unknown.
白质消融性脑病是一种罕见疾病，据估计每80,000个新生儿中就有1个；然而，真正的发病率仍然未知。
Clinical presentation
临床表现
Presenting symptoms include ataxia, spasticity, vision problems, and seizure disorders. Motor functions are affected more than other systems. The disease course is characterized by episodic deterioration following an inciting stress event (fever, trauma, etc.) with slow, incomplete recovery. Deterioration is cumulative. Earlier age of onset is associated with increased severity of symptoms and increased rapidity of decline. Patients presenting after age 4 typically have a slower course progression and lower mortality.
其症状包括共济失调、痉挛、视力问题和癫痫。运动功能比其他系统受影响更大。该疾病病程的特点是在刺激性应激事件(发烧、创伤等)后出现间歇性恶化，恢复过程缓慢、不完全。病情逐渐恶化。发病年龄越早，症状越严重，衰退越快。4岁以上的患者通常病程进展较慢，死亡率较低。
Imaging features
成像特点
CT: Cerebral and cerebellar atrophy, as well as ventriculomegaly, can be seen.
CT: 大脑、小脑萎缩，脑室扩大。
MRI: MRI is the preferred imaging modality and can help support a diagnosis if certain criteria are met: extensive signal abnormalities involving the cerebral white matter, white matter signal intensity on FLAIR the same as cerebrospinal fluid, disappearance of white matter, sparing of the temporal lobe, no cysts, and no contrast enhancement. Optic, cerebral, and cerebellar atrophy can often be seen.
MRI: MRI是首选的影像学特征，如果满足以下标准支持诊断：广泛脑白质信号异常，白质信号于FLAIR序列上和脑脊液信号一致，脑白质消失，颞叶不受累，没有囊肿，增强无强化。常可见视神经、大脑和小脑萎缩。
Treatment
治疗
There is no cure for vanishing white matter disease. Treatment is supportive and includes physical therapy for motor dysfunction and medication for seizure management. In general, it is important to prevent infection, fever, head trauma, and stressful situations. Antibiotics and antipyretics for even minor infections are recommended. Helmets are recommended when outside.
目前没有治愈方法。可以支持性治疗，包括运动功能障碍的物理治疗和癫痫控制的药物治疗。一般来说，预防感染、发烧、头部外伤和情绪激动很重要。即使是轻微的感染，也建议使用抗生素和解热药。外出时建议戴头盔。