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Sturge Weber Syndrome
The Sturge Weber Syndrome is a common, but unknown syndrome that has no cure but can be treated. The syndrome is usually known at birth by the presence of a birthmark, and is most often not fatal.
One with the Sturge Weber Syndrome usually encounters seizures at a very young age. There are many signs such as a port-wine stain that is noticeable at birth and is consisted of a capillary malformation around the eye on one side of the face. Abnormal intelligence is usually associated with the functions of the brain opposite the port-wine stain. Another sign is Glaucoma which usually developed later on in life for the victims of the Sturge Weber Syndrome.
The origin to this relentless syndrome is really unknown, Most doctors who specialize in this syndrome believe that chromosomal abnormalities is the main cause, but are unaware to the actual gene or combination of genes that provoke this. It is not known if inheritance of the Sturge Weber Syndrome has a pattern, but a dominant mode is suggested and likely. The syndrome has no preference to male or female, or race. Another possible cause could be a congenital anomaly, which was suggested in 1963, but is merely a possibility with no evidence to support this theory.
The patients with the Sturge Weber Syndrome are usually only impaired on one side of their physique. They experience slow reflexes or the inability to even move a limb opposite the port-wine stain. Retardation is by far the worst of all effects. Most do not endure retardation, but in some causes the extent has been ghastly. On an average 40% of
the underprivileged suffering from the Sturge Weber Syndrome has some degree of retardation. Glaucoma effects only 30% of the patient, but usually is restricted to on eye and, occurs in later years of their lives. A port-wine stain is another effect that is on the side of the face even before birth. It is very noticeable and is applied to almost every patient with the Sturge Weber Syndrome, but in very rare cases the port-wine stain, also known as cutaneous hemangioma, is absent. The stain varies in color from light pink to dark purplish-red, and tends to get darker in time. Patients also develop epilepsy (also known as a seizure disorder). It is a chronic condition which produces sudden disturbances in the normal electrical functions of the brain. These disturbances produce more than 20 different types of seizures affecting consciousness, movement, or sensation. Medication controls or reduces the number of seizures for many people. Others are more severely affected. Social rejection and discrimination also complicate life for many of the more than two and a half million Americans with epilepsy. One hundred and twenty-five thousand new cases develop every year among people of all ages. In the majority of cases, the cause is unknown.
Their are many treatments for such ailments, but no cure for any of them. For seizures anti-convulsants are prescribed. In some situations medication is applied to babies with severe seizures as young as one month old. Surgery or eye drops are used to relieve the harshness of glaucoma. Laser treatments are available to lighten, or remove if possible, the port-wine stain. A radical procedure that was proposed and successfully carried on many patient by Professor Chungani was to remove one side of the brain. It has been established that one hemisphere could damage the functions of the other. This procedure is
a last resort for patients with epileptic fits that could not be controlled by drugs. In most situations surgeons are hesitant to operate in such a risky procedure. For epilepsy drugs are used to relieve the harshness, but their is a radical new process. Doctors from Beth Israel Deaconess Medical Center in Boston have transplanted about half a million fetal pig brain cells (about the size of two droplets of water) into the brain of a middle-aged man who has severe epilepsy. This is the first time such a transplant has been tried to treat epilepsy, although similar pig-to-person brain cell transplants have been tried on people suffering from Parkinson's disease and Huntington's disease. The hope is that the pig brain cells will survive, make connections with the patient's brain cells and secrete enough GABA
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Rare diseases, Genodermatoses, SturgeWeber syndrome, KlippelTrnaunay syndrome, Port-wine stain, Syndromes, Epilepsy, Webers syndrome, William Allen Sturge, Angiomatosis
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