【双语病例】Sturge-Weber Syndrome

19 9 月


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.


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

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

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.

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome

【双语病例】Sturge-Weber Syndrome


【双语病例】Sturge-Weber Syndrome

Findings and Diagnosis

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


Differential Diagnosis

  • Sturge-Weber syndrome


  • Intracranial calcification secondary to previous hemorrhage


  • Cerebral hemiatrophy with calcified arteriovenous malformation


  • Healed cortical infarct


  • Effects of radiotherapy


  • Tuberous sclerosis


  • Neurofibromatosis


DiagnosisSturge-Weber syndrome


【双语病例】Sturge-Weber Syndrome


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.


Three types of Sturge-Weber syndrome exist:


  • Type 1 has the highest incidence and includes the above clinical and radiological features (see below).


  • Type 2 includes many of the clinical features above but no evidence of intracranial disease.


  • 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.


【双语病例】Sturge-Weber Syndrome

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.


  • 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.


  • 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.


【双语病例】Sturge-Weber Syndrome

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.


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.



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