What is Sturge-Weber syndrome?
The Sturge-Weber syndrome is a complex of several signs of disease, which are summarized under this term. In addition, there are other terms for the Sturge-Weber syndrome, which are used in medical literature and jargon.
The Sturge-Weber syndrome is therefore also more or less common as Sturge-Weber-Krab syndrome, meningofacial angiomatosis, encephalotrigeminal angiomatosis or angiomatosis encephalofacialis. Sturge-Weber syndrome has found its place among the so-called neurocutaneous phakomatoses in the systematisation of the diverse diseases.
The Sturge-Weber syndrome is innate and progresses in the further course, so that a colloquially referred to as Feuermal skin already shows in the children. The Sturge-Weber syndrome has been known since 1879 and occurs once in 50, 000 children.
The causative triggers for Sturge-Weber syndrome are assumed in the area of genetic disposition.
Research has shown that Sturge-Weber syndrome is based on a change in the genetic information of a particular genome, ie the genetic material. This abnormality causes the negative factors or the Sturge-Weber syndrome to develop in the womb during the embryonic development of the child.
A period between the 6th and the 10th week of pregnancy is assumed. The actual symptoms of Sturge-Weber syndrome, which are almost exclusively local to the face, are malformations of the blood vessels. In Sturge-Weber syndrome, the veins on the face are affected.
Symptoms, complaints & signs
Signs of a Sturge-Weber syndrome is a face-flushing blush. Likewise, a tumor in the vessels surrounding the brain indicates the disease. Both symptoms can occur individually or together. The Feuermale have different sizes and colors. The color can range from a light pink to a dark purple.
Increasingly, the firemales appear on the forehead or near the eyelid. For those affected, increased intraocular pressure can be measured, which significantly increases the risk of stroke. In about 80 percent of those affected, seizures occur. The seizures occurring during the first year of life turn out to be treatable.
In about half of the patients there is a weakening of the body half, which is opposite to the Feuermal. In about half of the infants, there are also intellectual impairments. Motor skills and language development can be delayed. Glaucoma can be both innate and over time.
This can lead to an enlargement of the eyeball. Many sufferers suffer from severe headaches. The pain is reminiscent of a migraine. Due to the frequent hemiparous body paralysis affected limbs remain behind in size. Due to neurological conditions, field loss occurs.
Diagnosis & History
Because Sturge-Weber syndrome is an accumulation of concomitant disease signs, children do not just suffer from externally visible anomalies. Also in terms of their development, the children often stand in the Sturge-Weber syndrome. In addition, various complications are possible in Sturge-Weber syndrome.
During the course of Sturge-Weber syndrome, there is an increase in the volume of blood vessels and deposits of calcium in the brain. In Sturge-Weber syndrome, these disorders are responsible for burgundy discoloration of certain areas of the face, angioma, and epilepsy and mental retardation.
In addition, Sturge-Weber syndrome is usually characterized by hemiplegia and physical impairment. Typically, hematomas that form in Sturge-Weber syndrome in the brain, an oversized circumference of the head and misalignment of the eyes (strabismus) on.
To diagnose the Sturge-Weber syndrome, the clinical abnormalities are first used. These are based on the optical examination of those affected by the specialist, an EEG and on a magnetic resonance imaging (MRI) of the brain.
Due to the Sturge-Weber syndrome sufferers primarily suffer from various malformations of the face and thus strong aesthetic complaints. Most sufferers feel very uncomfortable and suffer from mental and inferiority complexes. There is bullying and teasing, especially at a young age, so most patients have a serious illness at that age.
Likewise, paralysis and markedly reduced sensitivity may occur in different parts of the body. Cataracts or epileptic seizures also occur due to the Sturge-Weber syndrome and severely impair the patient's quality of life. Most patients also have mental disabilities and markedly delayed development.
In their life they are therefore dependent on the help of other people in everyday life and can not perform many activities alone. Furthermore, it often comes to a strong headache. Since causal treatment of the syndrome is usually not possible, only symptomatic treatment is performed. Complications usually do not occur. However, not all complaints are completely restricted. 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?
In the case of the Sturge-Weber syndrome, the affected person definitely needs medical examination and treatment. If left untreated, it usually leads to serious complications and, in the worst case, to the death of the person affected, so that the patient always has to rely on a medical examination and treatment.
In most cases Sturge-Weber syndrome has a facial blister on the face. The fire pot itself can be red or pink in color and have a very negative impact on the aesthetics of the person affected. Not infrequently it can also lead to cramps on the face, with most patients also suffering from severe headaches. Also, visual defects or impairments of intellectuality often indicate the Sturge-Weber syndrome and should also be examined by a physician.
The Sturge-Weber syndrome can be treated by a dermatologist or a general practitioner. Complete healing is usually not possible. Since Sturge-Weber syndrome can often lead to mental upset or depression, psychological treatment should also be provided.
Treatment & Therapy
The therapeutic measures associated with Sturge-Weber syndrome are extremely small. The cause of treatment with Sturge-Weber syndrome has so far been no improvement. In the proposed therapeutic procedures for Sturge-Weber syndrome, the main objective is to combat the symptoms and to improve the quality of life for the patients.
In this regard, in a diagnosed Sturge-Weber syndrome in particular the Hemiparesen be treated physiotherapeutic to curb a further decline of the musculature and consequent damage. Furthermore, treatment for Sturge-Weber syndrome is aimed at ensuring a cosmetic elimination of the facial and neck burn marks.
Since the symptoms of Sturge-Weber syndrome include severe vision disorders, periodic monitoring of intraocular pressure is useful. This procedure is intended to contribute to the early detection of glaucoma in a Sturge-Weber syndrome.
Since the hemangioma or the so-called blood sponge favorably delimits itself well against the surrounding skin tissue, operative interventions with high-quality laser technology are currently extremely successful. These may also relate to the neurosurgical procedures in the Sturge-Weber syndrome to counteract extensive paralysis.
Unfortunately, there are no preventive measures for the Sturge-Weber syndrome. Regarding the prognosis of the Sturge-Weber syndrome, clear dependencies on the extent of the disease are to be considered. These relate primarily to the unfavorable changes in the blood vessels in the brain due to the calcium deposits occurring. These are usually the cause of the fact that the age of Sturge-Weber syndrome sufferers shortened.
The aftercare of the Sturge-Weber syndrome is based on the symptoms and the course of the disease. First and foremost, it is necessary to regularly check the eyes. Patients must consult the ophthalmologist at least once a year. Responsible in the first years of the pediatrician and later a specialist. The physician controls the respective diseases of the eyes, any glaucoma, conjunctiva and retina.
Insofar as no complications are noted, the treatment is continued as usual. In case of a worsening of the state of health, an adaptation of the therapy is necessary. After a laser treatment, as it is required for a scar formation, a close season of one to two weeks is required. The doctor must monitor the course and if necessary prescribe painkillers or anti-inflammatories.
He will also inform patients about further measures, such as eye exercises and the use of the right sunscreen. The Sturge-Weber syndrome is taken over by the general practitioner, ophthalmologist and a specialist in neurosurgery. If the child is severely disabled, therapeutic support is also required. The parents usually need support in the care of the child. What measures are necessary for a Sturge-Weber syndrome in detail is individually different. The responsible doctor can give further information.
You can do that yourself
The Sturge-Weber syndrome is not curable and must be treated by an experienced physician. However, those affected can increase their well-being and safety through lifestyle changes: A fat-stressed diet with a greatly reduced intake of starch and sugar (ketogenic diet) can reduce the tendency of the brain to seizure. However, it is important to discuss any drastic change in diet with the attending physician. A dietician helps to make the ketogenic diet balanced and vital.
Various influences favor the occurrence of epileptic seizures and should therefore be avoided. These include: heavy stress, overheating and excessive consumption of alcohol and nicotine. Alcohol also changes the effects of antiepileptic drugs. It can lead to dangerous interactions. Patients who are not free of seizures prevent accidents by wearing a helmet in dangerous situations. It is also important to secure sharp edges in the apartment and do not take unattended full baths.
About one-third of Sturge-Weber patients suffer from migraine-like headaches. Those affected should sleep regularly and sufficiently, as lack of sleep is one of the main causes of the pain episodes. A headache diary helps to identify more triggers. Self-help organizations advise patients and their relatives; they can also recommend suitable specialists.