【双语病例】Sturge-Weber Syndrome

History

A 24-year-old woman admitted with a headache and reduced left-sided power and sensation after an absence seizure. The patient has a history of recurrent seizures treated with oral anticonvulsant therapy, and she has a large port-wine stain on the right side of her face. The seizures resolved after a week, but the patient continued to experienced persistent dizziness.

24岁女性，因“癫痫发作后头痛，左侧肢体肌力、感觉减退”入院。患者有癫痫反复发作及口服抗癫痫药物史，右侧面部见大片葡萄酒色斑点。此次癫痫发生后一周余，患者仍持续头晕。

Noncontrast CT images of the head with bone windows are shown below.

MR Images

Brain MR images with standard head coil with 1.5-tesla system are shown below. Click to enlarge.

In order: T1-weighted sagittal image without contrast, T2-weighted axial image, fluid-attenuated inversion-recovery (FLAIR) coronal and axial images, and axial diffusion-weighted image (DWI) and apparent diffusion coefficient (ADC) map.

Findings and Diagnosis

FindingsBrain CT and MR images show significant unilateral atrophy and calcification of the right cerebral hemisphere.

头颅CT和MR示右侧大脑萎缩伴钙化。

Differential Diagnosis

Sturge-Weber syndrome
斯特奇-韦伯综合征
Intracranial calcification secondary to previous hemorrhage
脑出血继发颅内钙化
Cerebral hemiatrophy with calcified arteriovenous malformation
动静脉畸形钙化，伴一侧大脑萎缩
Healed cortical infarct
皮层梗死治疗后改变
Effects of radiotherapy
放疗后改变
Tuberous sclerosis
结节性硬化
Neurofibromatosis
神经纤维瘤病

DiagnosisSturge-Weber syndrome

斯特奇-韦伯综合征

Discussion

Sturge-Weber syndrome, also called encephalotrigeminal angiomatosis, is a rare congenital, nonfamilial disorder caused by a somatic mutation in the GNAQ gene. Its clinical manifestation varies from “port-wine stains” of the face at birth, early onset seizures (commonly within the first year of life), glaucoma, and developmental delay. The ipsilateral leptomeningeal and facial angiomas result from the failure of fetal veins to develop normally, leading to the aforementioned port-wine stains, venous hypertension, and subsequent hypoperfusion of the underlying cortex, causing chronic cerebral ischemia, atrophy, and neurological deterioration.

斯特奇-韦伯综合征，又称脑三叉神经血管瘤，是由GNAQ基因突变引起的一种少见的、非家族性的先天性病变。主要临床表现包括出生时即可见面部“葡萄酒斑”、早发癫痫（常可发生在一周岁以内）、青光眼、发育迟缓等。胎儿发育时期的静脉发育异常，致同侧软脑膜和面部血管瘤，可引起上文提到的葡萄酒斑、静脉高压、皮层低灌注，最终导致慢性脑缺血、萎缩、神经退变。

Three types of Sturge-Weber syndrome exist:

Sturge-Weber综合征分为三型：

Type 1 has the highest incidence and includes the above clinical and radiological features (see below).
1型最为常见。有颜面血管瘤、脑膜血管瘤、青光眼等症状，影像学检查见典型表现。
Type 2 includes many of the clinical features above but no evidence of intracranial disease.
2型可见颜面血管瘤，但无颅内病变。
Type 3 is typically identified by brain imaging as there is usually no evidence of glaucoma or port-wine stains, so clinical diagnosis alone can be difficult to “rule in” the disease.
3型影像学检查可见颅内病变，但无青光眼或葡萄酒斑等表现，所以仅通过颅内病变难以诊断为本病。

Radiologic Features

Skull radiographs were historically useful and capable of identifying the gyriform calcification, but they no longer play a significant role in the diagnosis or management of the syndrome. CT and MRI are now the gold standards to identify intracranial abnormalities.

头颅平片曾经用于检出颅内脑回样钙化、诊断struge-weber综合征，但现在诊断价值已经不高，CT和MRI取而代之称为诊断颅内病变的金标准。

CT: CT imaging of the brain typically reveals “tram track” subcortical calcification and parenchymal volume loss, in addition to calvarial and regional sinus enlargement. Enlargement of the ipsilateral choroid plexus and deep venous may be seen and a “Dyke-Davidoff-Masson” appearance is seen in severe cases.
CT:颅脑CT典型表现为皮层下“车轨样”钙化，脑实质体积减小，患侧颅骨增厚、鼻窦增大。有时可见同侧脉络膜丛和深静脉增大。重症患者可表现为“Dyke-Davidoff-Masson”（达-戴-马三氏综合征）。
MRI: T1-weighted images from MRI can reveal prominent leptomeningeal enhancement, and T2-weighted imaging typically reveals reduced signal intensity in white matter subjacent to the angioma.
MRI:T1WI软脑膜信号增高，T2WI示血管瘤下方脑白质信号减低。

Differential Diagnosis

Tuberous sclerosis is another genetic condition that is part of the neurocutaneous syndromes. It is caused by mutations in the TSC1 and TSC2 genes, causing uncontrolled growth and multiple tumors, including hamartomas and hamartoblastomas. Clinical manifestations vary from neurocutaneous and ocular abnormalities to cardiothoracic (cardiac rhabdomyoma) and renal disorders (angiomyolipomas). Neurological signs include seizures, developmental delay, low IQ, and behavioral disorders. CT and MR brain imaging tend to reveal cortical and subcortical tubers, in addition to subependymal hamartomas. Both can be associated with calcification in early childhood, making it difficult to distinguish from Sturge-Weber syndrome. Linear bands seen on MRI are seen from the periventricular white matter to the subcortical region, and they are specific for tuberous sclerosis. Subependymal giant cell astrocytomas also are exclusively seen in tuberous sclerosis.

结节性硬化也是一种先天性病变，属于神经皮肤综合征的一部分。病变由TSC1和TSC2基因突变引起多发错构瘤和错构母细胞瘤，且肿瘤生长不受控制。临床表现主要包括神经皮肤病变，偶尔可见心血管病变（心脏横纹肌瘤）和肾脏病变（肾错构瘤）。神经系统症状包括癫痫、发育迟缓、智力低下、行为异常等。CT和MR可见皮层、皮层下结节及室管膜下错构瘤，这些结节和错构瘤均可发生钙化，难与Sturgeon-Weber综合征相鉴别。MRI可见脑室周围至皮层下白质的线样影是结节性硬化的特征性表现，另外室管膜下巨细胞型星形细胞瘤仅见于结节性硬化。

Neurofibromatosis type 1 (NF-1), or von Recklinghausen’s disease, is another congenital neurocutaneous condition. Similarly, learning difficulties, seizures, ocular abnormalities (typically proptosis), and dermatological conditions (café au lait spots) are common. The U.S. National Institutes of Health has created specific criteria for the diagnosis of NF-1, and neurological imaging can aid diagnosis. Patients typically have focal areas of signal intensity in the deep white matter and basal ganglia or corpus callosum, with areas of T2 FLAIR hyperintensity and no contrast enhancement. Lambdoid suture defects and dural calcification at the vertex are seen on skull x-rays. Those with ocular disorders can be found to have optic nerve gliomas on MR imaging, and buphthalmos can be seen on plain films.

1型神经纤维瘤病（NF-1），或 von Recklinghausen’s （周围型神经纤维瘤病）是一种先天性神经皮肤病变。通常表现为学习困难、癫痫、突眼、皮肤牛奶咖啡斑。美国国立卫生研究院已经确立了该病的诊断标准，神经影像学可以帮助诊断。患者通常表现为深部白质、基底节区、或胼胝体的异常信号，T2 FLAIR表现为高信号，增强扫描无强化。颅骨X线可见人字缝发育不全和颅顶部钙化。另外，还有一些眼部的病变，如MRI可发现视神经胶质瘤，平片可发现眼积水。

Neurological imaging plays an important role in the diagnosis of neurofibramotosis type 2 (NF-2), another neurocutaneous autosomal dominant condition. Affected individuals develop tumors of the central and peripheral nervous system, including schwannomas (typically of the vestibulum), meningiomas, ependymoma, gliomas, and neurofibromas. MRI remains the mainstay for diagnosis and screening of at-risk individuals for tumors. Symptoms depend on the location of the tumors, but headaches, seizures, and focal neurological deficits are commonly seen. Intracranial calcification is frequently seen in ependymomas and meningiomas.

2型神经纤维瘤病也是一种常染色体显性遗传性神经皮肤病变，神经影像学检查在该病的诊断中有重要的作用。患者可有中枢神经系统或周围神经系统的肿瘤病变，包括许旺氏细胞瘤、脑膜瘤、室管膜瘤、胶质瘤、神经纤维瘤等。MRI是高位人群筛查和肿瘤诊断的重要依据。根据肿瘤发生的位置不同，临床表现也各有不同，最常见的有头痛、癫痫、局灶性神经症状。室管膜瘤和脑膜瘤内常可见钙化。

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