Sturge-Weber Syndrome (SWS) is classified as multisystem disorder that involve central nervous system, skin and eyes. It is due to the outgrowth of an abnormal non-cancerous mixture of cells and tissues of the blood vessels which creates the blockage or tumor on the specific nerves that are around the forehead, skin and upper eyelid areas. This abnormal growth of blood vessels happens at the most inner layer of the skull that wrap around the brain. As a result, this creates pressure on the brain as well as the central nervous system and causes the physical characteristics of facial port-wine stain (PWS). (Mantelli 2016-NCBI). In addition to the PWS, the pressure on the brain leads to other complications like perpetual seizures, mental retardation.
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This occurs in 1 in 50,000 infants, with no significant difference between gender. (Mantelli 2016-NCBI). The syndrome started with impaired development in the embryonic stem cells during the first trimester of pregnancy, which leads to the characteristic malformations in brain, skin and eyes. However, this syndrome is not genetic disorder and not heritable, which means infant cannot get it from its parents. Instead, this is caused by a somatic mutation, changes in DNA sequences after the conception in one of the chromosomes. DNA is like a coding program in a computer that runs and controls all the function of a computer. DNA has 4 basis codes-A, T, G, C- that encodes everything from formation of your skins and hairs to every organ inside your body. These series of ATGC codes recipe to create babies are given from your mother’s egg and father’s sperm and combination of all DNA codes recipe is called genes. So, when a disease is a genetic disorder, that means DNA recipe that you received from your parents is already impaired and you are going to have the same disease as well. But somatic mutation means you don’t get it from your parents but during development, your cells don’t follow the original DNA recipe to function and change the recipe for worse. This is how cancer cells are developed within your body. Because of a single somatic mutation in the central nervous system, this leads to the SWS in
This occurs in 1 in 50,000 infants, with no significant difference between gender. (Mantelli 2016-NCBI). The syndrome started with impaired development in the embryonic stem cells during the first trimester of pregnancy, which leads to the characteristic malformations in brain, skin and eyes. However, this syndrome is not genetic disorder and not heritable, which means infant cannot get it from its parents. Instead, this is caused by a somatic mutation, changes in DNA sequences after the conception in one of the chromosomes. DNA is like a coding program in a computer that runs and controls all the function of a computer. DNA has 4 basis codes-A, T, G, C- that encodes everything from formation of your skins and hairs to every organ inside your body. These series of ATGC codes recipe to create babies are given from your mother’s egg and father’s sperm and combination of all DNA codes recipe is called genes. So, when a disease is a genetic disorder, that means DNA recipe that you received from your parents is already impaired and you are going to have the same disease as well. But somatic mutation means you don’t get it from your parents but during development, your cells don’t follow the original DNA recipe to function and change the recipe for worse. This is how cancer cells are developed within your body. Because of a single somatic mutation in the central nervous system, this leads to the SWS in