Preview

Von Hippel Lindau Syndrome Research Paper

Good Essays
Open Document
Open Document
464 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Von Hippel Lindau Syndrome Research Paper
Did you know that Von Hippel-Lindau Syndrome was named after two physicians that described the aspects of the condition in the early 1900s, a Germany ophthalmologist named Eugen Von Hippel and a Swedish pathologist named Arvid Lindau. The Von Hippel Lindau is a disease that’s an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors on the cerebellum, spinal cord, brain stem, or nerve root. The major cause for the Von Hippel-Lindau Syndrome is mutations in the suppressor gene, which keeps cell growth from going too slow or too fast. If the gene is mutated, it will cause a tumor to grow in one of the central nervous system. The symptoms can cause terrible headaches, vomiting, weakness and loss of muscle control, bad back pain, or strokes. The Von Hippel-Lindau Syndrome has many other symptoms, but these are the most common ones. Those are just some of the things you need to know about this syndrome. …show more content…

Some of the ways they test you to see if you have the syndrome include getting a MRI of the brain and spine, MRI of abdomen blood, a urinary catecholamine, or a fundoscopy, which is a test that lets doctors look at the back of your eyes. All of these can detect if you have it but sometimes it won’t show up on one test but it will on another test. There are three forms of treatment, but they can also make the tumor smaller. The three forms of treatment are surgery, radiation, or chemotherapy. They all work, but sometimes if the tumor is too big then you can’t get surgery. Some people with VHL get anxiety and have high blood pressure from the tumor. Those are the way people test and treat

You May Also Find These Documents Helpful

  • Good Essays

    Case Overview Ch 1-7

    • 5762 Words
    • 24 Pages

    Rule: For the past forty years it has been the rule that liability belongs only to the…

    • 5762 Words
    • 24 Pages
    Good Essays
  • Satisfactory Essays

    unit 8 as 1 nicks story

    • 282 Words
    • 2 Pages

    J. Nick’s symptoms indicate a peripheral polyneuropathy rather than a CNS lesion of the brain or spinal cord because they are symptoms related to sensation loss or weakness of certain areas.…

    • 282 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    When you sustain an injury or if your blood vessels get damaged, it sends out strong signals that are picked up by platelets. These platelets are tiny blood cells rush and spread across the surface of the injury and form clots or plug to stop the bleeding or repair the damage in a process known as adhesion. On any site of injury, these platelets send out chemical signals to other platelets to pile onto the clot formed in a process known as aggregation. Having too many platelets can cause blood clots which may cause a heart attack, stroke or block a major artery. If you have too few or no platelets can be dangerous too because any slight injury can lead to serious blood loss. An example of platelet disorder is…

    • 1155 Words
    • 5 Pages
    Good Essays
  • Powerful Essays

    Pt1420 Final Exam

    • 3892 Words
    • 16 Pages

    The basic building block of nucleic acids is the nucleotide. Nucleotides are composed of 3 parts. What are they?…

    • 3892 Words
    • 16 Pages
    Powerful Essays
  • Good Essays

    Brain On Fire Book Report

    • 899 Words
    • 4 Pages

    Werner Doyle performed a brain biopsy on Susannah. The results confirmed the expected inflammation of her brain. They knew that she had an autoimmune disease, but they didn’t know what kind. In the meantime, they could begin treatment with intravenous steroids. A Dr. Dalmau was given her spinal fluid samples to test for Anti-NMDA-receptor autoimmune encephalitis. Dr. Dalmau had discovered this disease by studying four women with similar symptoms, including a high white blood cell count, delusions, memory problems, and teratomas in their ovaries. They also had similar antibodies targeting specific areas of the brain, such as the hippocampus. Susannah’s results came back positive, but thankfully, she did not have any teratomas. Because of the aggressive plan of IVIG treatments, steroids, and plasmapheresis, Susannah was discharged from the hospital after twenty-eight days. The doctors weren’t sure if Susannah would ever be completely herself again, but with checkups, therapy, and the treatments, they were…

    • 899 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).…

    • 481 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Corpus Callosum Essay

    • 762 Words
    • 4 Pages

    The cause of agenesis of the corpus callosum is unidentifiable in many cases, but is thought to involve a vascular disruption or inflammatory lesion before 12 weeks. Certain medications such as Valproate, an epilepsy medication or drugs and alcohol are risk factors for this condition. Contracting rubella during pregnancy, chromosomal damage, and abnormalities like trisomy 21, 13, 11, 8 or 18 are also possible causes for ACC. Cysts inside the brain can prevent the development of the corpus callosum. The majority of ACC cases occur in conjunction with other brain abnormalities. The genetic disorders have a larger impact on the brain formation. Examples of these disorders are Arnold-Chiari malformation, Dandy-Walker syndrome, Schizencephaly, Holoprosencephaly, Hydrocephalus, Aicardi syndrome, Andermann syndrome, and…

    • 762 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Klippel-Fiel Syndrome

    • 435 Words
    • 2 Pages

    The heterogeneity of this syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic etiology of the syndrome. The prognosis for most individuals is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.…

    • 435 Words
    • 2 Pages
    Good Essays
  • Satisfactory Essays

    Noonan Syndrome is a genetic disorder that causes a person not to develop properly in various areas of the body. These defects can occur in different areas, such as facial characteristics, heart defects, short stature, development delays and skeletal malformation. Symptoms from those areas can cause a person to have abroad or webbed neck, minor eye problems, abnormal bleeding, an unusual chest shape, which is often seen at birth, and late puberty particularly in males. Many males with Noonan Syndrome suffer from cryptorchidism, due to late puberty which occurs at ages 14-15. Women with this disorder have more complications, when menstruating due to excessive bleeding. Noonan syndrome occurs when changes…

    • 370 Words
    • 2 Pages
    Satisfactory Essays
  • Better Essays

    Noonan Syndrome

    • 1686 Words
    • 7 Pages

    Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person's physical appearance in multiple ways, along with their mental state of mind. This syndrome equally affects males and females.…

    • 1686 Words
    • 7 Pages
    Better Essays
  • Good Essays

    The disease is a mutation of chromosome 15 and cause the body to lack hexosaminidase A, which results in buildup of gangliosides in the nerve cells of the brain (Tay-Sachs). This disease has a number of symptoms that, like cystic fibrosis, range from manageable to very severe. Some symptoms include: irritability, dementia, seizures, paralysis, deafness or blindness.…

    • 955 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Small Pox

    • 1806 Words
    • 8 Pages

    often lead to death if not treated. In this term paper you will read and learn…

    • 1806 Words
    • 8 Pages
    Good Essays
  • Better Essays

    Noonan Syndrome

    • 1278 Words
    • 6 Pages

    Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, and bleeding difficulties. Noonan syndrome affects a good percent of the world and may happen to anyone. Noonan syndrome has many key symptoms and very few certain treatment options. Noonan syndrome used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features of Noonan disorder include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway deregulation. Noonan syndrome is a relatively common genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 births.…

    • 1278 Words
    • 6 Pages
    Better Essays
  • Good Essays

    DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…

    • 354 Words
    • 2 Pages
    Good Essays
  • Good Essays

    As with most disorders cancer is one of the ones that have been tracked for many years. With all the factors involved and in place these are the most common forms that people may develop. Prostate, Breast, Lung or respiratory, Colon or rectal, urinary, non specific Lymphoma, kidney or renal, leukemia, thyroid, and ovarian would be among the top of the list. There are many scientists doing research on both cardiac and cancer to find ways to prevent or detect the presence early in order to correct the problems. Lately in cardiac news there is a new test called the C - reactive protein test. This test can check for a certain protein in the body that makes the arteries in the heart get inflamed. When the inflammation bursts if causes clots that…

    • 436 Words
    • 2 Pages
    Good Essays

Related Topics