Sturge Weber Syndrome

A whole range of diseases that lead to aesthetic impairments in the face often cause long and heavy suffering for those affected. This also applies to that Sturge Weber Syndrome to.

What is Sturge Weber Syndrome?

At the Sturge Weber Syndrome it is a complex of several signs of illness, which are summarized under this term. In addition, there are other terms for the Sturge-Weber syndrome that are used in medical literature and in technical jargon.

The Sturge-Weber syndrome is therefore also called Sturge Weber Krabbe Syndrome, meningofacial angiomatosis, encephalotrigeminal angiomatosis or Angiomatosis encephalofacialis more or less familiar. In the systematization of the various diseases, the Sturge-Weber syndrome has found its place among the so-called neurocutaneous phakomatoses.

The Sturge-Weber syndrome is congenital and progresses in the further course, so that a skin type known colloquially as a fire mark is already evident in the children. Sturge-Weber syndrome has been known since 1879 and occurs once in 50,000 children.

causes

The causal triggers for that Sturge Weber Syndrome are accepted in the area of ​​genetic disposition.

Genetic research has led to findings that the Sturge-Weber syndrome is based on a change in the genetic information in a certain genome, i.e. in the genetic material. This abnormality leads to the fact that the negative factors or predispositions for Sturge-Weber syndrome develop in the womb during the child's embryonic development.

A period between the 6th and 10th week of pregnancy is assumed. The actual symptoms of Sturge-Weber syndrome, which are almost exclusively localized in the face, are malformations of the blood vessels. The veins in the face are affected in Sturge-Weber syndrome.

Symptoms, ailments & signs

A sign of Sturge-Weber syndrome is a fire mark on the face. A tumor in the blood vessels surrounding the brain also suggests the disease. Both symptoms can appear individually or together. The fire marks have different sizes and colors. The coloration can range from a light pink to a dark purple.

The fire marks appear increasingly on the forehead or near the eyelid. In those affected, increased intraocular pressure can be measured, which noticeably increases the risk of a stroke. Seizures occur in around 80 percent of those affected. The seizures occurring during the first year of life prove to be more treatable.

In about half of the patients there is a weakening of the body half that is opposite the fire mark. About half of the toddlers also have intellectual impairments. Motor skills and language development can be delayed. Glaucoma can be both congenital and develop over time.

This can lead to an enlargement of the eyeball. Many people suffer from severe headaches. The pain is reminiscent of a migraine. Due to the frequent unilateral paralysis of the body, the affected extremities remain smaller in size. Visual field losses occur neurologically.

Diagnosis & course

Since the Sturge Weber Syndrome If it is a collection of symptoms that appear at the same time, the children do not only suffer from externally visible abnormalities. Children with Sturge-Weber syndrome often stand still with regard to their development. In addition, various complications are possible with Sturge-Weber syndrome.

During the course of the Sturge-Weber syndrome, the blood vessels increase in size and calcium is deposited in the brain. In Sturge-Weber syndrome, these disorders cause wine-red discolouration of certain facial areas, an angioma, epilepsy and mental retardation.

In addition, with Sturge-Weber syndrome, paralysis and physical impairments usually occur on one side. Typical are hematomas that develop in the brain in Sturge-Weber syndrome, an oversized head and misalignment of the eyes (strabismus).

To diagnose Sturge-Weber syndrome, the clinical abnormalities are first used. These are based on the specialist's optical examination of the person concerned, an EEG and magnetic resonance imaging (MRT) of the brain.

Complications

Because of the Sturge-Weber syndrome, those affected primarily suffer from various malformations of the face and thus from severe aesthetic complaints. Most of those affected feel very uncomfortable with it and suffer from psychological complaints and inferiority complexes. Bullying and teasing occur particularly at a young age, so that most patients experience severe suffering at this age.

It can also lead to paralysis in different parts of the body and significantly reduced sensitivity. Cataracts or epileptic seizures also occur due to Sturge-Weber syndrome and significantly reduce the patient's quality of life. Most patients also have intellectual disabilities and significantly delayed development.

In their everyday life they are therefore dependent on the help of other people and cannot carry out many activities on their own. Furthermore, severe headaches are common. Since a causal treatment of the syndrome is usually not possible, only symptomatic treatment is carried out. There are usually no complications. However, not all ailments are completely limited. The Sturge-Weber syndrome may also have a negative impact on the quality of life of the person affected.

When should you go to the doctor?

The affected person is in any case dependent on a medical examination and treatment if Sturge-Weber syndrome occurs. If left untreated, this usually leads to serious complications and, in the worst case, to death of the person concerned, so that the patient is always dependent on a medical examination and treatment.

In most cases in Sturge-Weber syndrome, a fire mark on the face indicates the disease. The fire mark itself can be colored red or pink and have a very negative effect on the aesthetics of the person concerned. It is not uncommon for facial cramps to occur, with most patients suffering from severe headaches. Defects in the field of vision or impairments of intellectuality often point to Sturge-Weber syndrome and should also be examined by a doctor.

Sturge-Weber syndrome can be treated by a dermatologist or by a general practitioner. Complete healing is usually not possible. Since the Sturge-Weber syndrome can often lead to mental disorders or depression, psychological treatment should also be carried out.

Treatment & Therapy

The therapeutic measures related to the Sturge Weber Syndrome are extremely low. Treatment of Sturge-Weber syndrome has so far not caused any improvement. With the therapeutic methods used for Sturge-Weber syndrome, the aim is mainly to combat the symptoms and enable patients to have a better quality of life.

In this regard, in the case of a diagnosed Sturge-Weber syndrome, the hemipareses in particular are treated with physiotherapy in order to curb a further decline in the muscles and the associated damage. Furthermore, treatment for Sturge-Weber syndrome is geared towards ensuring the cosmetic removal of the fire mark on the face and neck area.

Since the symptoms of Sturge-Weber syndrome include severe visual impairments, periodic intraocular pressure monitoring is useful. In the case of Sturge-Weber syndrome, this approach is intended to help detect glaucoma in good time.

Since the hemangioma or the so-called blood sponge is favorably well demarcated from the surrounding skin tissue, surgical interventions with high-quality laser technology are currently extremely successful. In the case of Sturge-Weber syndrome, these can also refer to the neurosurgical procedures to counteract extensive paralysis.

prevention

For the Sturge Weber Syndrome unfortunately there are no preventive measures. With regard to the prognosis for Sturge-Weber syndrome, clear dependencies on the extent of the disease must be observed. These primarily relate to the unfavorable changes in the blood vessels in the brain caused by the calcium deposits that occur. These are usually the reason why the age of people suffering from Sturge-Weber syndrome is shortened.

Aftercare

Follow-up care for Sturge-Weber syndrome is based on the symptoms and the course of the disease. First and foremost, regular eye checks are necessary. Patients must consult their ophthalmologist at least once a year. The pediatrician is responsible for the first few years and later a specialist. The doctor checks the respective diseases of the eyes, any glaucoma, conjunctiva and retina.

If no complications are found, the treatment is continued as usual. If the state of health deteriorates, the therapy must be adjusted. After laser treatment, which is necessary for scarring, a period of one to two weeks is required. The doctor must monitor the course and, if necessary, prescribe pain relievers or anti-inflammatories.

He will also inform the patient about other measures, such as eye exercises and the use of the correct sun protection. The Sturge Weber Syndrome is taken over by the general practitioner, ophthalmologist and a specialist in neurosurgery. If the child has a severe disability, therapeutic support is also necessary. The parents usually need support in looking after the child. Which measures are necessary in detail for a Sturge-Weber syndrome varies from person to person. The doctor responsible can provide further information.

You can do that yourself

Sturge-Weber syndrome is incurable and must be treated by an experienced doctor. However, those affected can increase their well-being and safety through lifestyle changes: A high-fat diet with greatly reduced intake of starch and sugar (ketogenic diet) can reduce the tendency of the brain to cramp. However, it is important to discuss any drastic changes in diet with the attending physician. A dietitian helps to make the ketogenic diet balanced and rich in vital substances.

Various influences favor the occurrence of epileptic seizures and should therefore be avoided. These include: excessive stress, overheating, and excessive consumption of alcohol and nicotine. Alcohol also changes the effects of anti-epileptic drugs. Dangerous interactions can occur. Patients who are not seizure-free prevent accidents by wearing a helmet in dangerous situations. It is also important to secure sharp edges in the apartment and not to take unattended full baths.

About a third of Sturge-Weber patients suffer from migraine-like headaches. Those affected by this should sleep regularly and sufficiently, because lack of sleep is one of the main triggers of pain episodes. Keeping a headache diary will help identify other triggers. Self-help organizations advise the sick and their relatives; they can also recommend suitable specialists.