Life expectancy
Life expectancy does not necessarily have to be limited in Sturge Weber syndrome. If above all the port-wine stain is in the foreground of the disease and there are no drastic accompanying symptoms, the patient is hardly different from a healthy person. The eye diseases associated with the syndrome do not usually change life expectancy, even if blindness results.
Especially in countries like Germany, it is no longer a problem nowadays to lead an almost unrestricted life, even though one cannot see. Life expectancy is limited mainly by the neurological disorders. The Blitz-Nick-Salaam attacks (West Syndrome) lead to death in 25% of all affected children – whether or not they have Sturge Weber Syndrome – by the age of three.
Due to the poor treatment options, the consequences of the seizures and the reduced supply to the affected hemisphere of the brain are very diverse. Despite the symptoms, one child can go through an almost regular development while another suffers from severe disability. If all cases of Sturge Weber syndrome are summarized, a reduction in life expectancy must be assumed. However, each patient must be considered individually.
Associated symptoms
Often the affected children suffer from accompanying symptoms caused by the benign vascular tumors. The symptoms are divided into two camps: eye diseases and neurological disorders. Already in infancy, a severe epilepsy disease can develop, which is often difficult to treat.
The so-called lightning-nick-salaam seizures (also: West syndrome) are characterized by a characteristic cramping pattern and are particularly harmful to the young brain. If left untreated, the seizures lead to severe brain damage or even to the death of the child.Due to the cramping and the poor vascular status in the brain (caused by the calcified angiomas), there is an undersupply. Depending on the extent, this can result in a developmental delay or even a mental disability.
If patients are already somewhat older, they often describe recurrent migraine-like headache attacks. Damage to the tissue of the affected side of the brain (hemisphere) can also lead to hemiparesis. Since the right side of the body is controlled by the left brain and vice versa, the opposite side of the body is always affected by the paralysis.
If this happens early in the course of the disease, the development of the corresponding extremities or even the entire body growth may be reduced.
- Eye diseases
- Fire stain on the face
- Neurological disorders
- Epilepsy
- Mental disability
- Headache Attacks
The most important ophthalmological symptom (ophthalmology = ophthalmology) is glaucoma. Glaucoma is also known as “glaucoma” and includes all pressure-related damage to the optic nerve.
The pressure inside the eye can be increased, but also completely normal. In Sturge-Weber syndrome, the choroid (vascular layer) of the eye is also affected by the angiomas. The proliferating vascular tumors obstruct the drainage system of the ocular fluid, which in this case increases the intraocular pressure.
The nerve is slowly damaged, which manifests itself in so-called visual field failures. Patients no longer see “black” in the affected areas, but nothing at all. The area that is normally supplied by the affected nerve fibers is lost.
In addition to glaucoma, retinal detachment can also occur, which can also lead to blindness of the eye. The only feature that is always shared by all patients suffering from Sturge Weber syndrome is the port-wine stain on the face. The so-called naevus flammeus is more of a cosmetic problem for those affected than an actual disease value.
The port-wine stain is a malformation of the smallest vessels below the uppermost skin layer. The localization is based on the course and supply area of the trigeminal nerve. This pathway, which belongs to the cranial nerves, supplies the face with sensitive nerve fibers for pain and touch sensation. In Sturge-Weber syndrome, the clearly limited, reddish change always includes the eyelid of the affected side (this does not necessarily mean that there are accompanying symptoms on the eye).