Definition
The Sturge Weber syndrome, also known as encephalotrigeminal angiomatosis, is a chronically progressive disease from the so-called circle of neurocutaneous phacomatoses. It is a group of diseases of the nervous system and skin characterized by malformations. The Sturge Weber syndrome is characterized by the formation of angiomas (German: Blutschwamm).
Angiomas are benign vascular tumors that can occur in the face, on the meninges and on the choroid of the eye. This can lead to further sequelae, which are triggered by the space requirement in the eye and on the meninges. Externally, affected patients are conspicuous by a one-sided port-wine stain (naevus flammeus) on their face. These one-sided, usually dark red spots of varying size always include the eyelid in Sturge Weber syndrome.
Therapy
The Sturge Weber syndrome cannot yet be treated curatively (curatively). The focus is on the therapy of the accompanying symptoms and regular medical check-ups. In order to ensure that the child’s development is as uncomplicated as possible, special attention should be paid to the detection and treatment of an existing epilepsy disorder (especially West’s syndrome).
If the suspicion is confirmed, a drug therapy with cortisone, cortisone-releasing drugs or anticonvulsants (anticonvulsant drugs) is carried out. If the causal changes can be achieved surgically, epilepsy surgery can also be attempted. Glaucoma can be treated to a large extent by intraocular pressure-lowering medication or by surgical intervention.
However, nerve fibers already lost cannot be saved. The flame mark can be largely removed by laser treatment, whereby only slight scarring occurs. Since the degree of suffering is often related to the intensity of the nevus flammeus, early treatment in childhood is recommended before the mark changes over time.
If neurological or cognitive (mental) losses have been caused by the disease, it is important to support the children with all possible psychological and physical means. For this purpose, regular psychotherapy as well as physiotherapy and occupational therapy can be aimed for. A school education corresponding to their level of performance is also very important.
- Symptomatic treatment
- Cortisone therapy
- Anticonvulsants
- Surgical treatment
- Laser treatment
