The neurological manifestations of Sturge-Weber general involve the leptomeninges, the membranous coverings of the brain. The skin of the face can be involved in the distributions of the trigeminal nerve (most commonly the ophthalmic and maxillary divisions) and can present as a skin angioma called a port-wine stain because of its color. The underlying cause of Sturge Weber syndrome is not entirely known. There most certainly appears to be a significant genetic component as genetic abnormalities have been found in many patients with the disease. However, it is not a typical hereditary disease which is inherited in a simple fashion. Rather, it appears to occur sporadically. It may be due to abnormalities in embryonal development. It is present at birth (congenital). The neurological manifestations are generally a unilateral angioma on the pia, part of the covering of the brain. This is also usually only on one side, the same side as the skin angioma. The angioma in this location can vary in exact location, size and extent. The nervous system symptoms will therefore vary from patient to patient. However, in general the angioma causes injury to the underlying brain and frequently cause seizures that begin early in infancy. The type and severity of seizures varies from patient to patient but most commonly involve the opposite side of the body primarily. If the angioma is in the region of the motor cortex, there may also be muscle weakness on the opposite side of the body. Some children, particularly those with uncontrolled, frequent seizures, can have significant developmental delay and mental retardation. They can also present with glaucoma (increased pressure within the eye). In the case of Sturge-Weber this may include neuroimaging such as CT scan and/or MRI to demonstrate the typical neurological involvement. Other tests to rule out other potential causes may also be performed. Each patient and their family should consult their own treating physi This genetic abnormality leads to abnormal development and differentiation of cells, including within the nervous system. Various manifestations can occur in many organs. In relation to the nervous system, areas of abnormal cortical development in the brain, called a cortical tuber, can be present in multiple locations. There can also be subependymal nodules or tumors calledsubependymal giant cell astrocytoma. The subependymal region is the area in the brain just adjacent to the ventricles, the fluid filled cavities within the brain. The number of tubers in the brain can vary considerably from patient to patient. They are often associated with epilepsy (in over 80% of patients). The number of tubers also correlates with the severity of disease. Patients with more tubers often have more difficulty with seizure control, more developmental delay and poorer performance in school. Other neurological and psychiatric symptoms can occur as well. There are numerous other manifestations in various organs including the eye, the heart, the kidneys, the lungs, the bones and the gastrointestinal tract. To make a definitive diagnosis of tuberous sclerosis, physicians must demonstrate the presence of either 2 major features or 1 major feature with 2 other minor features. The major and minor features are lists of signs and symptoms which are classic for tuberous sclerosis. They are listed here: Major Features Minor Features Other medical care of these patients can involve management of multiple problems in addition to seizure control. Treatment of tumors, blood pressure control, renal function testing, psychiatric and behavioral testing and treatment and special education for patients with developmental delay and more can all be important in the long-term management of the disease. Patients are generally cared for by a multi-disciplinary team of physicians including pediatric specialists, surgeons, neurosurgeons and others. The care of each patient is different and therefore generalizations about treatment and prognosis are not possible. Each patient and their family should consult their own treating physicians regarding the recommended treatment options.What Is It?
Sturge-Weber syndrome, also called encephalotrigeminal angiomatosis, is a congenital disorder characterized by angiomas, abnormal growth of blood vessels, which most frequently involve the nervous system and the skin of the face. Because of this involvement of the nervous system and the skin, it is known as a neurocutaneous disorder.What Types of Symptoms Are Typical?
The presence of these angiomas can have several clinical consequences. The angiomas typically occur just on one side of the face and brain, although bilateral examples have been seen. The skin angiomas present as a large port-wine stain birthmark most commonly on the forehead and eyelid or the midface, on one side.How Is The Diagnosis Typically Made?
In a young child who presents with with seizures and/or a port-wine stain type birthmark, a thorough neurological evaluation is usually done to work up the cause of the symptoms.What Are Some Common Treatments?
The treatment of any individual child with Sturge-Weber syndrome can vary and patients and their families should consult their own treating physicians about the most appropriate treatment in their specific case. However, most of the treatment is generally aimed at controlling seizure frequency or eliminating them completely if possible. This may include treatment with anti-epilepsy medications. If medications alone are not sufficient to control the seizures, surgical removal of the affected brain may be recommended in some cases. The ultimate goal of treatment is to limit or eliminate seizures to help maximize the potential for normal development and quality of life. Poor control of seizures often leads to worse outcomes.Tuberous Sclerosis
What Is It?
Tuberous Sclerosis is a complex genetic disorder which affects the normal development of various cell types in the body, resulting in formation of abnormal tissues in many organs including the skin, brain, eye, kidney and heart. It is an autosomal dominant hereditary disorder, meaning a person only has to receive one copy of the abnormal gene from one of their parents to have the disease. However, there have been some new mutations reported without obvious disease in either parent.What Types of Symptoms Are Typical?
Patients with tuberous sclerosis can present with varying symptoms. May patients present with skin manifestations which are often the first symptoms noticed which bring them to medical attention. Skin symptoms can include hypomelanotic macules, whitish spots, on the skin or small raised bumps on the child's face. These bumps, angiofibromas are also known as adenoma sebaceum, a misnomer. Other skin manifestations can occur as well.How Is The Diagnosis Typically Made?
In patients who present with any signs and symptoms consistent with tuberous sclerosis a full neurological evaluation is generally performed. In addition to a thorough history and physical examination, this often includes imaging to detect internal manifestations of the disease. For example, abrain MRI is often employed to detect cortical tubers, subependymal masses and other findings consistent with the disease.What Are Some Common Treatments?
The treatment for tuberous sclerosis is complex and varies from patient to patient depending on their specific clinical manifestations. In regards to the neurological disease, patients with epilepsy are treated aggressively to try to minimize or eliminate seizures. This usually includes initial treatment with anti-seizure medications. In patients who have seizures which are poorly controlled with medications, surgical treatment is sometimes considered if the source of the seizures can be identified in the brain.
Wednesday, March 31, 2010
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