Presentation on theme: "Neurofibromatosis By B. T.. What is Neurofibromatosis? u The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development."— Presentation transcript:
What is Neurofibromatosis? u The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. The neurofibromatoses occur in both sexes and in all races and ethnic groups. Scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Other or variant types of the neurofibromatoses may exist, but are not yet identified.
What is NF1? u NF1 is the more common type of the neurofibromatoses, occurring in about 1 in 4,000 individuals in the United States. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Previously, NF1 was known as peripheral neurofibromatosis (or von Recklinghausen's neurofibromatosis) because some of the symptoms--skin spots and tumors--seemed to be limited to the outer nerves, or peripheral nervous system, of the affected person. This name is no longer technically accurate because central nervous system tumors are now known to occur in NF1.
What are the Symptoms of NF1? u five or more light brown skin spots (cafe-au-lait macules) measuring more than 5 millimeters in diameter in patients under the age of puberty or more than 15 millimeters across in adults and children over the age of puberty u two or more neurofibromas (tumors that grow on a nerve or nerve tissue, under the skin) or one plexiform neurofibroma (involving many nerves) u freckling in the armpit or groin areas u benign growths on the iris of the eye (known as Lisch nodules or iris hamartomas) u a tumor on the optic nerve (optic glioma) u severe scoliosis (curvature of the spine) u enlargement or deformation of certain bones other than the spine
When Do Symptoms Appear for NF1? u Symptoms, particularly those on the skin, are often evident at birth or during infancy, and almost always by the time a child is about 10 years old. Neurofibromas become evident at around 10 to 15 years of age. In most cases, symptoms are mild and patients live normal and productive lives. In some cases, however, NF1 can be severely debilitating. u Symptoms and severity of the disorder may vary among members of affected families.
How is NF1 treated? u Treatments are presently aimed at controlling symptoms. Surgery can help some bone malformations. For scoliosis, bone surgery may be combined with back braces. Surgery can also remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers. In the rare instances when tumors become malignant (3 to 5 percent of all cases), treatment may include surgery, radiation, or chemotherapy.
What is NF2? u This less common of the neurofibromatoses affects about 1 in 40,000 persons. NF2 is characterized by bilateral (occurring on both sides of the body) tumors on the eighth cranial nerve. It was formerly called bilateral acoustic neurofibromatosis or central neurofibromatosis because the tumors, which cause progressive hearing loss, were thought to grow primarily on the auditory nerve, a branch of the eighth cranial nerve responsible for hearing. Scientists now know that the tumors typically occur on the vestibular nerve, another branch of the eighth cranial nerve near the auditory nerve. The tumors, called vestibular schwannomas for their location and for the type of cells in them, cause pressure damage to neighboring nerves. In some cases, the damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life-threatening.
What are the Symptoms of NF2? u To determine if an individual has NF2, a physician looks for the following: u 1. bilateral eighth nerve tumors, u 2. a parent, sibling, or child with NF2 and a unilateral eighth nerve tumor, u 3. a parent, sibling, or child with NF2 and any two of the following: glioma, meningioma, neurofibroma, schwannoma, or u cataract at an early age.
When Do Symptoms of NF2 Appear? u Affected individuals may notice hearing loss as early as the teen years. In addition to changes in hearing that may occur in one or both ears, other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur.
How is NF2 treated? u Treatments for NF2 are aimed at controlling the symptoms. Improved diagnostic technologies, such as MRI (magnetic resonance imaging), can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option, but may result in hearing loss. Other options include partial removal of tumors, radiation, and, if the tumors are not progressing rapidly, the conservative approach of watchful waiting
What scientists know about the NFs... u Formerly the neurofibromatoses were grouped as one disorder with at least two variations. Scientists now know that NF1 and NF2 are two distinct entities because the genes believed to be responsible for them are located on different chromosomes. The NF1 gene is on chromosome 17, while the gene for NF2 is on chromosome 22.
What scientists know about the NFs… (cont.) u Humans have 23 pairs of chromosomes, receiving one set of 23 chromosomes from each parent. Chromosomes carry genes that determine an individual's characteristics, such as sex, stature, hair and eye color, and distinctive family traits. Genes produce proteins that control an individual's development and health. If an inherited gene is defective, or a gene becomes defective spontaneously before birth, a genetic disorder may result. The neurofibromatoses are inherited as dominant disorders, which means that if either parent has the defective gene, each child born to that parent has a 50 percent chance of inheriting the defective gene.
Research u The National Institute of Neurological Disorders and Stroke (NINDS), a unit of the Federal Government's National Institutes of Health (NIH), has primary responsibility for conducting and supporting research on neurological disorders. The Institute sponsors basic studies aimed at understanding normal and abnormal development of the brain and nervous system, and clinical studies to improve diagnosis and treatment of neurological disorders. In conjunction with the NIH's National Cancer Institute, the NINDS encourages research specifically targeted on the neurofibromatoses.
Research (cont.) u The Interinstitute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research, including a study involving individuals and families with NF2. With information from this study, investigators have confirmed the location of the NF2 gene on chromosome 22. Also, using specimens from some of the families, scientists have isolated and sequenced the NF2 gene, and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations
Personal Story u On Sunday, December 27, 1998, former SayWhatClub Forum Birthday Elf Marianne Schneider slipped into a coma. Three days later, her twelve-year battle with NF-2 came to an end, when she died at home in her own bed, surrounded by her family. Marianne came into the world in an ordinary way, and left it an extraordinary person. Born the sixth of eight children to Joseph and Betty Lou Schneider, of Sharon Hill, PA, Mari was raised in the Catholic faith and attended Catholic elementary and high schools. It was in her senior year in high school that the diagnosis of NF-2 was made. Initially, Marianne's goal was to attend college as a business major, then make her mark in the world. The many changes that NF-2 foisted on her life caused her to rethink her values and goals, resulting in Mari's decision to enter a helping profession where she could give back some of the love and care she found herself receiving as a person living with NF-2. Surgery for bilateral acoustic neuromas resulted in Marianne becoming hard of hearing, and later deaf, so she entered Gallaudet University, a liberal arts university for deaf and hard of hearing students, majoring in social work. Marianne worked hard toward her goal, achieving high honors, but subsequent surgeries took their toll, forcing Marianne to drop out of college at the end of her Junior year.
Personal Story (continued) u Marianne endured 13 major surgical procedures on her brain and spinal cord between the time she was diagnosed at age 18 and her final surgery at age 24. Her final surgery left her quadriplegic and unable to continue her college education, but Mari was not about to let that interfere with her goal to give back to others the love and care she herself was receiving. As a member of the SayWhatClub, an email-based organization serving hard of hearing, deaf, and late-deafened persons the world over, Marianne volunteered her time and energy as "The Birthday Elf." Mari's responsibilities included surprise announcements of member's birthdays so everyone would have the opportunity to join in on congratulations. In the early days of the SayWhatClub, Mari's efforts helped create a feeling of family within this online community. In 1995, Marianne helped found the NF2Crew, an email-based organization that serves people living with NF2, their families, and their loved ones. The NF2Crew was primarily an offshoot of the SayWhatClub, formed when several swc members who had NF2 felt there was a need for an online group focused specifically on the needs of persons living with NF2.
u Marianne's community service was not limited to what she could do from her computer. Locally, she successfully got her town to remove architectural barriers from a park so wheel chair users could easily access it and to install needed curb cuts. She was responsible for Temple University Hospital providing interpreters for deaf patients and for TTY's and closed caption television in patient's rooms. Marianne's lobbying also resulted in a bank replacing its outside ATM machine with one accessible for wheel chair users. She also succeeded in getting her church to install a wheelchair ramp so she and several other mobility impaired communicants could attend Sunday services again. Marianne's community service included volunteer work with a number of organizations. She volunteered for Barrier Awareness of Elwyn, PA, an organization that educated the public about issues of public access for disabled people. Marianne would work with a team that put on puppet shows at public schools. Her character was a Muppet-like deaf girl who would teach the children in the audience about deaf people and sign language, along with other disability issues. These performances aimed to educate children about the differently-abled to prevent stereotypes and biases from becoming what they perceived differently-abled persons to be. Marianne also volunteered for the Valley View Home for the Deaf assisted living program of Elwyn, PA, and for the Deaf-Hearing Communication Centre,(sic) of Holmes, PA. At the Valley View Home for the Deaf, Mari spent time with Deaf senior citizens, brightening up their day with her wit and humor and a game of rummy or two. At the Deaf-Hearing Communication Centre, Mari cataloged their office library, among her other duties. (It should be noted here that before Mari withdrew from Gallaudet University, she founded and was first president of ALDA-Metro DC, a chapter of the Association of Late-Deafened Adults. The chapter continued for a while after Mari withdrew, but without her guidance and leadership at the helm, it subsequently disbanded.) ( continued)
Personal Story (continued) u Marianne participated in the local chapter of Square Wheels, a square-dancing association for persons in wheel chairs. Since Mari was profoundly deaf, this presented a challenge, as she could not hear the music nor the directions called out by the dance master. Mari solved that problem by making up signs and gestures to use for dance calls, teaching them to the dance master, and became a skilled dancer as well as a popular friend and member. People meeting Marianne were always astonished by the person they came to know. How could someone with a broken body and no hearing be so active and accomplish so much? And how is it possible for such a person to have such a beautiful attitude and positive outlook on life? Mari's patent response--as honest as it was direct--was that her strength and positive attitude flowed from two sources: her deep faith in God, and her mom's ever present love. Always she credited those two with making her the person whom she was. And people found her to be a very impressive person. In a videotaped interview, Mari once said, "A lot of people say 'God bless you' after meeting me. I tell them He already has."
u Word got around, and recognition followed. On April 20, 1997, Marianne's Alma Mater, Archbishop Prendergast High School, elected Mari to their Alumni Hall of Fame, for "... inspiring an appreciation of Catholic school values." On October 17, 1997, The Archdiocese of Philadelphia, PA, conferred on Marianne the Distinguished Catholic Graduate Award, for being an outstanding role model for Catholics, young and old. And on March 31, 1998, The Mercy Health Care System of Philadelphia presented Marianne with the Courage to Come Back Award, for her superior achievements in overcoming extreme physical disability. All of this recognition was well deserved, but left Marianne feeling self-conscious, as her humility and modesty were genuine. However, the recognition did not stop here. Eventually, word got back to Vatican City in Rome and on June 14, 1998, in a ceremony presided over by Cardinal Anthony Bevilaqua, in Saints Peter and Paul Basilica in Philadelphia, PA, Pope John Paul II named Marianne Schneider to the Papal Honor of the Cross, "Pro Ecclesia et Pontifice." Established in 1888 by Pope Leo XIII, the Papal Honor of the Cross is awarded to individuals in recognition of special service to the Church and the Papacy. Marianne could not believe she was worthy of such a high honor, but those who knew and loved her knew better. ( continued )
Personal Story (continued) u Sadly, the following month, Mari learned she had a life threatening tumor that her surgical team could do nothing about. She chose to die at home, among her loved ones, and set about the task of wrapping up her extraordinary life. Her parents, her sisters and brothers and some of her friends took on the role of facilitating a comfortable, dignified death for Mari, but the lion's share of the task was accomplished by her mom. When the end finally came, Mari was comfortable and at peace. Marianne kept a journal, and in the final entry made several weeks before her death, she reaffirmed the sources of her strength were her mom's love and her faith in God. Mari remained totally committed to just these two all the days of her life. She will be sorely missed. u Eulogy by Mark Dessert (used with permission)
What we have learned today u There are two types of neurofibromatoses, classified as NF1 and NF2. Other or variant types of the neurofibromatoses may exist, but are not yet identified. u Genetic disorder with the 17 chromosome for NF1, and the 22 chromosome for NF2. u NF1 is more common and occurs with 1 in 4000 individuals in the United States. u Most cases, NF1 will allow patients to live normal productive lives. u No complete cure, but able to shrink some of the tumors that form or to help deformities of the bones. u NF2 is less common and occurs with 1 in every 40,000 people in the United States.
What we have learned today? (continued) u NF2 occurs bilaterally (occurring on both sides of the body) on the eighth cranial nerve. u NF2 can be life threatening if it effected vital structures such as the brainstem. u No cure of NF2, but able to remove the tumors. Can result in loss of hearing u Symptoms for both occur in teenage years. u NF is inherited as a dominant disorder, which means the child has a 50% chance of inheriting the defective gene. u Happens with all races, sexes, and ethnic groups.
Bibliography u Neurosurgery. Internet WWW page at URL:http://neurosurgery.mgh.harvard.edu/NFR/ Neurosurgery. Internet WWW page at URL:http://neurosurgery.mgh.harvard.edu/NFR/ u Neurofibromatosis. Internet WWW page at URL:http://www.ninds.nih.gov/HEALINFO/DISORDER/NEUROFI B/NEUROFIB.HTM Neurofibromatosis. Internet WWW page at URL:http://www.ninds.nih.gov/HEALINFO/DISORDER/NEUROFI B/NEUROFIB.HTM