Sturge-Weber syndrome (SWS) is a neurological disorder marked by a distinctive port-wine stain on the forehead, scalp, or around the eye.

This stain是由皮肤表面附近的毛细血管过多引起的胎记。与污渍相同的血管也可能受到影响。

大量有SWS经验的人seizures或者抽搐. Other complications may include increased pressure in the eye, developmental delays, and weakness on one side of the body.

The medical term for SWS is encephalotrigeminal angiomatosis, according to theNational Organization for Rare Disorders,

SWS发生在估计的20,000至50,000个活产中。大约有1,000名婴儿出生时有港口葡萄酒。但是，只有6％的婴儿患有与SWS有关的症状。

The most apparent indication of SWS is a port-wine stain, or red and discolored skin on one side of the face. The discoloration is due to dilated blood vessels in the face that make the skin appear reddened.

Not everyone with a port-wine stain has SWS, but all children with SWS have a port-wine stain. A child must have the port-wine stain and abnormal blood vessels in the brain on the same side as the stain to be diagnosed with SWS.

In some children, abnormal vessels don’t cause any symptoms. In others, they can cause the following symptoms:

  • developmental delays
  • 认知障碍
  • seizures
  • weakness on one side of the body
  • paralysis

Glaucoma

根据美国小儿眼科和斜视协会的数据，估计有50％的SWS儿童在婴儿期或童年后期患有青光眼。

Glaucomais an eye disease often caused by increased pressure in the eye. This can cause vision impairment, sensitivity to light, and eye pain.

尽管SWS出生时存在，但它不是遗传条件。相反，这是GNAQ基因中随机突变的结果。

当婴儿在子宫中时，与SWS相关的血管形成开始。在开发的第六周左右，该地区周围发展的神经网络将成为婴儿的头部。

通常，该网络在开发的第九周就消失了。但是，在有SWS的婴儿中，这种神经网络不会消失。这减少了流向大脑的氧气和血液的量，这会影响脑组织发育。

Doctors can often diagnose SWS based on the symptoms that are present. Babies with SWS may not always be born with the characteristic port-wine stain. However, they often develop the birthmark shortly after birth.

如果您的孩子的医生怀疑您的孩子可能有SWS，他们将订购成像测试，例如CT和MRI扫描。这些测试产生了大脑的详细图像，使医生可以寻找脑部损伤的迹象。

他们还将进行眼科测试，以检查是否存在青光眼和其他眼睛异常。

SWS的治疗可能会根据儿童所经历的症状而有所不同。它可能包括：

  • 抗惊厥药，可以减少癫痫活性
  • eye drops, which can decrease eye pressure
  • surgery, which can relieve glaucoma symptoms
  • 物理疗法，可以增强弱肌肉
  • 教育疗法，可以帮助有发育延迟的儿童尽可能地进步

如果您的孩子希望减少港口污渍的外观，则可以使用激光治疗。但是，重要的是要注意，这些治疗方法可能无法完全消除胎记。

根据约翰·霍普金斯医学的说法80％of children with SWS also have seizures.

Additionally,25％这些孩子有完全的癫痫发作，50 percent具有部分癫痫发作，并且25％没有药物的癫痫发作控制。

Most children with SWS have a port-wine stain and brain abnormalities that affect only one side of the brain. In some children, however, both sides of the brain may be affected.

这些孩子更有可能遭受发育延迟和认知障碍。

SWS can affect children in different ways. Some children may experience seizure disorders and severe development delays. Other children may not have any symptoms other than a noticeable port-wine stain.

Talk to a doctor to learn more about your child’s specific outlook based on their symptoms.