MN 580 FIU Nursing Discussion

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MN 580 FIU Nursing Discussion

 

Neurofibromatosis (NF) is a genetic neurological disorder that affects nerves, spinal cord, brain and skin where individuals develop non-cancerous tumors under the skin or on nerves (National Human Genome Research Institute, 2022). However, it is not always inherited. 50% of the time, it is a random defect at the time of conception (Children’s Hospital of Pittsburg, 2022). There are two different types of NF: 1 and 2. Symptoms for NF1 include café-au-lait spots on the skin, skin tumors, freckles in the groin or armpits, Lisch nodules on the eyes, optic glioma, scoliosis and malformations of the skeletal system (National Human Genome Research Institute, 2022). NF2 symptoms include tumors of the 8th cranial nerve, brain tumors, hearing disruptions, cataracts, balance disturbance, spinal tumors, and muscle atrophy (National Human Genome Research Institute, 2022). Diagnostic testing includes hearing, eye, and balance exams, imaging studies such as X-ray, CT, and MRI (Mayo Clinic, 2022). Also, genetic testing can be done to confirm the diagnosis (Children’s Hospital of Pittsburg, 2022). There is no cure, but symptoms can be managed. Also, it is important to monitor young patients for new or changing tumors, hypertension, growth and development, skeletal changes, early puberty, learning development, and regular eye exams (Mayo Clinic, 2022). Pain medications and surgical tumor removal may provide relief as well when needed.

Children’s Hospital of Pittsburg. (2022). Diagnosing neurofibromatosis. https://www.chp.edu/our-services/brain/neurology/n…

Mayo Clinic. (2022). Neurofibromatosis. https://www.mayoclinic.org/diseases-conditions/neu…

National Human Genome Research Institute. (2022). About neurofibromatosis. https://www.genome.gov/Genetic-Disorders/Neurofibr…