A whole series of diseases, which leads to aesthetic impairment of the face, often causes a severe and long suffering in the affected persons. This is also true of Sturge-Weber syndrome.
What is Sturge-Weber syndrome?
Sturge-Weber syndrome is a complex of several disease signs, which are summarized under this term. In addition, other terms exist for Sturge-Weber syndrome, which are used in medical literature and jargon. 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, Sturge-Weber syndrome has found its place among the so-called neurocutaneous phakomatoses. Sturge-Weber syndrome is congenital and progresses in the further course, so that a skin picture colloquially called port-wine stain already appears in children. Known since 1879, Sturge-Weber syndrome occurs 1 time in 50,000 children.
Causes
The causative triggers for Sturge-Weber syndrome are thought to be in the area of genetic disposition. Genetic research has yielded findings along the lines that Sturge-Weber syndrome is caused by an alteration of genetic information at a specific genome, i.e., in the genetic material. This abnormality leads to the fact that the negative factors or the predispositions for the Sturge-Weber syndrome are already formed in the womb during the embryonic development of the child. It is thought to occur between the 6th and 10th weeks of pregnancy. The actual symptoms of Sturge-Weber syndrome, which are almost exclusively localized in the face, are malformations of the blood-carrying vessels. The veins in the face are affected in Sturge-Weber syndrome.
Symptoms, complaints, and signs
Signs of Sturge-Weber syndrome include a port-wine stain on the face. Similarly, a tumor in the vessels surrounding the brain is also suggestive of the disease. Both symptoms can occur separately or together. The port-wine stains vary in size and coloration. The coloration can range from a light pink to a dark purple. More frequently, port-wine stains appear on the forehead or near the eyelid. An increased intraocular pressure is measurable in those affected, which noticeably increases the risk of stroke. Seizures occur in about 80 percent of affected individuals. The seizures, which occur during the first year of life, prove to be more easily treatable. In about half of the patients, there is a weakening of the side of the body opposite the port-wine stain. Intellectual impairment also occurs in about half of the infants. Motor and language development may be delayed. Glaucoma can be congenital or develop over time. This can lead to an enlargement of the eyeball. Many affected individuals suffer from severe headaches. The pain is reminiscent of a migraine. Due to the frequent hemiplegia, affected extremities are reduced in size. Neurologically, facial field deficits occur.
Diagnosis and course
Because Sturge-Weber syndrome is an accumulation of concurrent signs of disease, children suffer not only from externally visible abnormalities. Children with Sturge-Weber syndrome also often stall in terms of their development. In addition, various complications are possible in Sturge-Weber syndrome. During the course of Sturge-Weber syndrome, there is an increasing circumferential proliferation of blood vessels and calcium deposits in the brain. In Sturge-Weber syndrome, these disorders cause wine-red discoloration of certain facial areas, angioma, epilepsy and mental retardation. In addition, Sturge-Weber syndrome usually causes hemiplegia and physical impairments. Hematomas that form in the brain in Sturge-Weber syndrome, an oversized circumference of the head, and misalignment of the eyes (strabismus) are typical. For the diagnosis of Sturge-Weber syndrome, the clinical abnormalities are used first. These are based on the visual examination of the affected person by the specialist, an EEG and magnetic resonance imaging (MRI) of the brain.
Complications
Due to Sturge-Weber syndrome, affected individuals primarily suffer from various facial deformities and thus severe aesthetic discomfort. Most affected individuals feel very uncomfortable with it and suffer from psychological discomfort and inferiority complexes. There is bullying and teasing, especially at a young age, so most patients have a severe suffering at this age. Similarly, there may be paralysis in various parts of the body and significantly reduced sensitivity. Cataracts and epileptic seizures also occur as a result of Sturge-Weber syndrome and severely limit the patient’s quality of life. Most patients also exhibit mental retardation and significantly delayed development. In their lives, they are therefore dependent on the help of other people in everyday life and cannot perform 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. Complications usually do not occur. However, not all symptoms are completely limited. It is also possible that Sturge-Weber syndrome has a negative effect on the quality of life of the affected person.
When should you see a doctor?
The affected person is definitely in need of medical examination and treatment when Sturge-Weber syndrome occurs. If left untreated, this usually results in serious complications and, in the worst cases, death of the affected person, so the patient is always in need of medical examination and treatment. In most cases of Sturge-Weber syndrome, a port-wine stain on the face indicates the disease. The port-wine stain 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 spasms to occur in the face, with most patients also suffering from severe headaches. Also, failures in the visual field or impaired intellectuality often indicate Sturge-Weber syndrome and should also be examined by a physician. Sturge-Weber syndrome can be treated by a dermatologist or by a general practitioner. A complete cure is usually not possible. Since Sturge-Weber syndrome can also often lead to psychological upset or depression, psychological treatment should also be given.
Treatment and therapy
Therapeutic measures associated with Sturge-Weber syndrome are extremely limited. Causally, no improvement can be achieved with treatment of Sturge-Weber syndrome to date. In the therapeutic procedures applied to Sturge-Weber syndrome, the main objective is to combat the symptoms and to enable patients to enjoy a better quality of life. In this respect, in the case of a diagnosed Sturge-Weber syndrome, the hemipareses in particular are treated physiotherapeutically in order to limit a further decline of the musculature and the associated consequential damage. Furthermore, treatment for Sturge-Weber syndrome is aimed at ensuring cosmetic elimination of the port-wine stain on the face and neck. Since symptoms in Sturge-Weber syndrome include severe visual disturbances, periodic monitoring of intraocular pressure is useful. This approach should help detect glaucoma in a timely manner in Sturge-Weber syndrome. Since the hemangioma or the so-called blood sponge is favorably well demarcated from the surrounding skin tissue, surgical interventions, also with high-quality laser technology, are currently extremely successful. These may also refer to neurosurgical procedures in Sturge-Weber syndrome to counteract extensive paralysis.
Prevention
Unfortunately, there are no preventive measures for Sturge-Weber syndrome. Regarding the prognosis in Sturge-Weber syndrome, there are clear dependencies on the extent of the disease. 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 cause of shortening the age of those suffering from Sturge-Weber syndrome.
Follow-up
Follow-up care for Sturge-Weber syndrome is based on the symptoms and progression of the disease. First and foremost, regular eye examinations are necessary.Patients must consult the ophthalmologist at least once a year. The pediatrician is responsible in the first years and later a specialist. The physician checks the respective diseases of the eyes, any glaucoma, conjunctiva and retina. As long as no complications are detected, the treatment is continued as usual. If the state of health deteriorates, the therapy must be adjusted. After laser treatment, as is necessary in the case of scarring, a rest period of one to two weeks is required. The doctor must monitor the progress and prescribe painkillers or anti-inflammatories if necessary. In addition, he will inform the patient about further measures, for example eye exercises and the use of the correct sun protection. Sturge-Weber syndrome is taken care of by the general practitioner, ophthalmologist and a specialist in neurosurgery. Therapeutic support is also needed if the child is severely disabled. Parents mostly need assistance in caring for the child. Which measures are necessary in detail in the case of Sturge-Weber syndrome varies from individual to individual. The responsible physician can provide further information.
What you can do yourself
Sturge-Weber syndrome is not curable and must definitely be treated by an experienced medical professional. However, affected individuals can increase their well-being and safety through lifestyle changes:
A high-fat diet with greatly reduced starch and sugar intake (ketogenic diet) can reduce the brain’s tendency to seize. However, it is important to discuss any drastic dietary changes with the doctor treating the patient. A dietician helps to ensure that the ketogenic diet is balanced and rich in vital substances. Various influences favor the occurrence of epileptic seizures and should therefore be avoided. These include: severe stress, overheating and the excessive consumption of alcohol and nicotine. Alcohol also alters the effect of antiepileptic drugs. Dangerous interactions may 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 home and not take unsupervised full baths. About one 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 the pain episodes. A headache diary helps to identify other triggers. Self-help organizations advise sufferers and their relatives; they can also recommend suitable specialists.
