Type 3 may also be known as the isolated neurological variant. Type 3 consists of neurological involvement, but without skin abnormalities. Type 2 consists of skin symptoms and possibly glaucoma, but there is no evidence of neurological involvement. These individuals may or may not have glaucoma. Type 1 consists of skin and neurological symptoms. Some publications break down SWS into three main subtypes. In the case of SWS, these “growths” are malformations of abnormal blood vessels. Neurocutaneous syndromes or phakomatoses are broad terms for groups of disorders in which “growths” develop in the skin, brain, spinal cord, bones and sometimes other organs of the body. SWS may be classified as a neurocutaneous syndrome or one of the phakomatoses. This mutation occurs randomly (sporadically) for no known reason. SWS is caused by a somatic mutation, most commonly in the GNAQ gene. Some symptoms may not develop until adulthood. Symptoms are usually present at birth (congenital), yet the disorder is not inherited and does not run in families.
Consequently, the specific symptoms and severity of the disorder can vary dramatically from one person to another. brain, skin and eyes), or only two, or only one. SWS can be thought of as a spectrum of disease in which individuals may have abnormalities affecting all three of these systems (i.e.
Sturge-Weber syndrome (SWS) is a rare vascular disorder characterized by the association of a facial birthmark called a port-wine birthmark, abnormal blood vessels in the brain, and eye abnormalities such as glaucoma.
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