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Neurofibromatosis

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Neurofibromatosis cannot be prevented. People with a family history of the disease may choose to undergo genetic testing and counseling to determine if they are at risk for transmitting NF to their offspring.

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Neurofibromatosis

  1. 1. NEUROFIBROMATOSIS By; jagdish sambad FY MSC NURSING IKDRC COLLEGE OF NURSING
  2. 2. Review of anatomy and physiology • A nerve is an enclosed, cable-like bundle of axons (nerve fibers, the long and slender projections of neurons) in the peripheral nervous system. A nerve provides a common pathway for the electrochemical nerve impulses that are transmitted along each of the axons to peripheral organs.
  3. 3. Neurofibromatosis • Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood. • The tumors are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.
  4. 4. Cont.. • Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery can help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain.
  5. 5. Types: • NeurofNeurofibromatosis 1 (NF1) usually appears in childhood. Signs are often evident at birth or shortly afterward, and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity. • Signs and symptoms include: • Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots is a strong indication of NF1. They are usually present at birth or appear during the first years of life and then stabilize. • Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds. • Tiny bumps on the iris of your eye (Lisch nodules). These harmless nodules can't easily be seen and don't affect vision.
  6. 6. Neurofibromatosis 2 • Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors (acoustic neuromas) in both ears. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain. • Signs and symptoms generally appear in the late teen and early adult years, and can vary in severity. Signs and symptoms can include: • Gradual hearing loss • Ringing in the ears • Poor balance • Headaches
  7. 7. Risk factor • The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people with NF1 and NF2 inherited the disease. NF1 and NF2 that isn't inherited results from new gene mutations. • NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.
  8. 8. causes In book Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis: NF1. The NF1 gene is located on chromosome 17. This gene normally produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled. NF2. The NF2 gene is located on chromosome 22, and produces a protein call merlin. The mutated gene causes a loss of merlin, leading to uncontrolled cell growth. Schwannomatosis. So far, two genes are known to cause schwannomatosis. heart disease and endocarditis
  9. 9. Clinical manifestation - Cutaneous Multiple café au lait spots(95% or less) - Intertriginous freckling (65%-85%) - Dermal Neurofibromatosis (65%-85%) - Xanthogranulomas (2%-5%) - Hemangiomas (5%-10%) - Ophthalmologic - Optic nerve pathway tumor (15%) - Lisch nodules (65%-85%) - Glaucoma (rare) - Musculoskeletal - Sphenoid wing dysplasia (1%) - Long-bone bowing (2%-5%) - Scoliosis (20%) - Short stature (25%-35%) - Relative macrocephaly (45%) - Cardiovascular - Hypertension (2%-5%) - Congenital heart defect (2%) - Neurological - Hydrocephalus (5%) - Enlarged head circumference - Seizures (11%) - Educational/learning difficulties (40%-60%) - Sensor neural hearing loss (5%) - Precocious puberty (2%-5%) - Tumors - Plexiform neurofibromas (50%) - Malignant peripheral nerve sheath - tumors (5%-10%) - Central nervous system gliomas(2%) - Pheochromocytoma,
  10. 10. Investigation In book History and physical examination Labs include CBC USG & CT scan MRI scan
  11. 11. Treatment • There is no cure for neurofibromatosis. Treatments for neurofibromatosis focus on controlling symptoms. There is no standard treatment for NF, and many symptoms, such as café au lait spots, do not need treatment. When treatment is necessary, options may include: • Surgery to remove problematic growths or tumors • Treatment that includes chemotherapy or radiation if a tumor has turned malignant or cancerous • Surgery for bone problems, like scoliosis • Therapy (including physical therapy, counseling or support groups) • Cataract removal surgery • Aggressive treatment of associated pain.
  12. 12. NURSING MANAGEMENT: • Nursing assessment: • Obtain the detail history of patient. • Monitor the patient for symptoms. • Monitor the vital sign. • Physical Assessment. • Check the frequently intravenous site if any reaction during continuing antibiotic injection. • Maintain intake and output chart. • Avoid taken fat and cold drink to this type patient. • If the patient having history of the diabetes mellitus then monitoring random blood sugar accurately and then administer insulin. • To give details health education regarding the neurofibroma.
  13. 13. Nursing diagnosis 1. Acute pain and discomfort related to treatment and prolonged immobility as evidenced by oral complaint of patients and discomfort. 2. Altered nutrition level: less than body requirement related to inadequate intake of food by the patient as evidenced by weakness, fatigue. 3. Knowledge deficit related to the disease condition and recovery as evidenced by the anxiety and frequent questioning. 4. Sleep pattern disturbance related to the hospitalization as evidenced by drowsiness and discomfort. 5. Risk for injury related to seizures, disorientation and brain damage. 6. Ineffective therapeutic regimen related to lack of knowledge regarding Neurofibromatosis and its management as evidenced by frequent question prognosis.
  14. 14. Health education Given health education on various aspects of health, disease condition its causes, sign and symptoms, diagnostic investigation, treatment and follow-up during his stay in the hospital and at the time of discharge. • Disease condition • Given health education regarding neurofibromatosis its causes and management. • I also given health education regarding the prevention of neurofibromatosis.
  15. 15. Cont.. Medication - Medication should be taken regularly as per doctor ordered. - It is taken time to time, don’t miss medicine dose. - If miss the medication dose then advice from your doctors or nurses. - To take regular medicine. Nutrition - Balanced diet should be important for preventing the illness and further complication. - I advised to patient take high protein, diabetic diet and fat free diet. - Use diet plan schedule for calorie management and advised from dietician. Avoid non-vegetarian diet.
  16. 16. Cont.. Home care • Complete bed rest. • Avoid heavy lifting shifting. • Regular exercise as per doctor ordered. • To maintain proper personal hygiene. • Use mask during traveling. To preventing disease or illness. Follow-up • Neuro- surgical OPD for follow up.

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