Causes
The cause of the Sturge Weber syndrome lies on a genetic level. According to current knowledge, it is a somatic mutation. This means that the disease is not inherited, but is triggered spontaneously by errors in the carrier’s DNA.
The sequence of certain compounds in the DNA, so-called base pairs, determines the blueprint of all cell components and enzymes in the human body. In Sturge Weber syndrome, a random exchange of such a base pair occurs, resulting in a defective product. The result is an increased signal activity in certain cells, which promotes the growth of vessels – beyond the normal level. This leads to the development of benign vascular tumors, the angiomas.
Diagnosis
Already at birth the birthmark can be seen on the face of the child. The size changes with the growth of the patient. Also the coloration can increase in intensity or fade.
Computer tomography can reveal a loss of brain tissue (brain atrophy) on the affected side and increased calcification of the vessels. If the changes in the skull are so severe that epilepsy is triggered, it is diagnosed with the help of an EEG (electroencephalogram). An ophthalmologic examination should also be performed, since various components of the eye can be affected by the vascular changes and thus their function can be restricted.
Magnetic resonance imaging (MRI) is also used in the diagnosis of suspected Sturge Weber syndrome. In this case, a contrast medium is used, which can depict the vessels particularly well. On the one hand, the detailed imaging of the vascular system allows malformations to be easily detected.
Trained eyes – such as those of a radiologist – can then distinguish between natural variants and pathological changes when evaluating the images.On the other hand, the contrast medium can overcome the so-called blood–brain barrier if this is disturbed. This barrier is a cell system that separates the vessels or blood from the brain tissue and allows only selected substances to cross it. Thus, if the contrast medium passes through this blood-brain barrier, this indicates damage to the vascular cell system, which can be caused by malformations or severe calcification.
