Sturge-Weber Syndrome

Sturge-Weber Syndrome

A whole series of diseases, which lead to aesthetic impairments in the face, often cause severe and long suffering for those affected. This also applies to Sturge-Weber syndrome.

What is Sturge-Weber Syndrome?

The Sturge -Weber syndrome 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 the medical literature and in the technical jargon. For baller-gerold syndrome in English, please visit gradphysics.com.

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

Sturge-Weber syndrome is congenital and progresses over time, so that a skin condition known colloquially as port -wine stain can already be seen in children. Sturge-Weber syndrome has been known since 1879 and occurs once in 50,000 children.

Causes

The causative triggers for the Sturge-Weber syndrome are assumed to be in the area of ​​genetic disposition.

Genetic research has brought about findings that the Sturge-Weber syndrome is based on a change in the genetic information in a specific genome, i.e. in the genetic material. This abnormality leads to the fact that the negative factors or predispositions for Sturge-Weber syndrome are already formed 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 localized almost exclusively on the face, are malformations of the blood vessels. Sturge-Weber syndrome affects the veins on the face.

Symptoms, Ailments & Signs

A sign of Sturge-Weber syndrome is a port-wine stain on the face. Likewise, a tumor in the vessels surrounding the brain indicates the disease. Both symptoms can occur individually or together. The port-wine stains have different sizes and colors. Coloration can range from light pink to dark purple.

The port-wine stains appear more frequently on the forehead or near the eyelid. Increased intraocular pressure can be measured in those affected, which noticeably increases the risk of a stroke. Seizures occur in about 80 percent of those affected. The seizures that occur during the first year of life prove to be treatable.

In about half of the patients, there is a weakening of the side of the body opposite the port-wine stain. Intellectual impairments also occur in about half of young children. Motor skills and language development can be delayed. Glaucoma can be congenital or develop over time.

This can lead to enlargement of the eyeball. Many sufferers suffer from severe headaches. The pain is reminiscent of a migraine. Due to the frequent paralysis of one side of the body, the size of the affected extremities is reduced. Visual field defects occur for neurological reasons.

Diagnosis & History

Since Sturge-Weber syndrome is a collection of symptoms that occur simultaneously, the children do not only suffer from externally visible abnormalities. Children with Sturge-Weber syndrome also often stop when it comes to their development. In addition, various complications are possible with Sturge-Weber syndrome.

During the course of Sturge-Weber syndrome, there is an increasing increase in the size of the blood vessels and deposits of calcium in the brain. In Sturge-Weber syndrome, these disorders cause burgundy discoloration of certain areas of the face, an angioma, as well as epilepsy and mental retardation.

In addition, the Sturge-Weber syndrome is usually accompanied by one-sided paralysis and physical impairments. Typical are hematomas, which form in the brain in Sturge-Weber syndrome, an oversized head and misaligned eyes ( squinting ).

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

Complications

Due to the Sturge-Weber syndrome, those affected primarily suffer from various malformations in the face and thus from severe aesthetic complaints. Most of those affected feel very uncomfortable with it and suffer from psychological problems and inferiority complexes. Bullying and teasing mainly occurs at a young age, so that most patients have a severe ordeal at this age.

Paralysis and significantly reduced sensitivity can also occur in various parts of the body. Cataracts or epileptic seizures also occur as a result of Sturge-Weber syndrome and significantly reduce the patient’s quality of life. Most patients also present with intellectual disabilities and markedly delayed development.

In their lives, they are therefore dependent on the help of other people in everyday life and cannot carry out many activities on their own. Severe headaches are also common. Since causal treatment of the syndrome is usually not possible, only symptomatic treatment is carried out. Complications usually do not arise. However, not all complaints are completely curbed. Sturge-Weber syndrome may also have a negative effect on the patient’s quality of life.

When should you go to the doctor?

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

In most cases, Sturge-Weber syndrome is indicated by a port-wine stain on the face. The birthmark itself can be red or pink in color and have a very negative effect on the aesthetics of the affected person. It is not uncommon for cramps to occur in the face, with most patients also suffering from severe headaches. Losses in the field of vision or impairments of intellectuality often indicate 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 Sturge-Weber syndrome can also often lead to mental upset or depression, psychological treatment should also be carried out.

Treatment & Therapy

The therapeutic measures that arise in connection with Sturge-Weber syndrome are extremely small. Causally, no improvement can be achieved with treatment of Sturge-Weber syndrome. The main aim of the therapeutic procedures used for Sturge-Weber syndrome is to combat the symptoms and enable the patient to have a better quality of life.

In this regard, if Sturge-Weber syndrome is diagnosed, the hemiparesis in particular is treated with physiotherapy in order to curb further muscle contraction and the associated consequential damage. Furthermore, treatment for Sturge-Weber syndrome is aimed at ensuring cosmetic removal of the port-wine stain on the face and neck.

Because symptoms of Sturge-Weber syndrome include severe visual disturbances, periodic monitoring of intraocular pressure is useful. In the case of Sturge-Weber syndrome, this procedure should help to 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 relate to the neurosurgical procedures to counteract extensive paralysis.

Prevention

Unfortunately, there are no preventive measures for Sturge-Weber syndrome. With regard to the prognosis in Sturge-Weber syndrome, clear dependencies on the extent of the disease must be taken into account. These relate primarily to the unfavorable changes in the blood vessels in the brain due to the calcium deposits that occur. These are usually the reason why people suffering from Sturge-Weber syndrome shorten their lives.

Aftercare

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

Provided no complications are found, treatment continues as usual. If the state of health deteriorates, the therapy must be adjusted. A rest period of one to two weeks is required after a laser treatment, as is required for scarring. The doctor must monitor the course and prescribe painkillers or anti-inflammatories if necessary.

He will also inform patients about further measures, such as eye exercises and the use of the right sun protection. Sturge-Weber syndrome is taken on by the general practitioner, ophthalmologist and a specialist in neurosurgery. If the child is severely disabled, therapeutic support is also necessary. Parents usually need support in caring for the child. The detailed measures that are necessary for Sturge-Weber syndrome vary from person to person. The doctor in charge can provide more information.

You can do that yourself

Sturge-Weber syndrome cannot be cured 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 a greatly reduced intake of starch and sugar (ketogenic diet ) can reduce the brain’s tendency to cramp. However, it is important to discuss any drastic change in diet with the doctor treating you. A dietitian will help you to create a ketogenic diet that is balanced and rich in vital substances.

Various influences promote the occurrence of epileptic seizures and should therefore be avoided. These include: severe stress, overheating and excessive consumption of alcohol and nicotine. Alcohol also alters the effect of antiepileptic 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 full baths unsupervised.

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

Sturge-Weber Syndrome