Neurofibromatosis

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Neurofibromatosis - Overview
Also known as: NF
A disorder of the nervous system affecting development of nerve cell tissues.
Urgent medical attention is usually recommended by healthcare providers
Can be dangerous or life threatening if untreated
Rare (Fewer than 200,000 cases per year in US)
Treatments can help manage condition, no known cure
Requires lab test or imaging
Can last several years or be lifelong
Common for ages 5 and younger
Family history may increase likelihood
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Causes
Neurofibromatosis is caused by genetic mutations that are either inherited or are acquired spontaneously.
The disease follows an autosomal dominant pattern of inheritance which means that a child can be affected even if one defective gene is inherited.
Mutations (defects) in NF1 gene result in abnormal/no neurofibromin protein which causes NF1. defects in NF2 gene cause abnormality in/loss of protein called merlin leading to NF2 disease. Both these proteins have a role in cell growth regulation.
The risk factors include:
Family history
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Symptoms
Seek immediate medical attention if you experience symptoms.
Symptoms differ in all the three types of Neurofibromatoses.
Symptoms for NF1 (These are found in childhood)
Presence of flat, light brown spots on The skin
Freckling in armpits or groin area
Tiny bumps on The iris of eye
Soft bumps on or under the skin
Bone deformities
Tumor on optic nerve
Learning disabilities
Head size larger than average
Short Stature
Symptoms for NF2 (These are found in teenage)
Gradual hearing loss
Ringing in The ears
Poor balance
Head aches
Numbness and weakness in arms or legs
Facial drop
Vision problems
Symptoms for Schwannomatosis
Chronic pain anywhere in the body
Numbness or weakness in various parts of body
Loss of Muscle
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Is there a cure for neurofibromatosis?
She and Dan founded the Gilbert Family Foundation, a nonprofit dedicated to finding a cure for neurofibromatosis-a genetic disorder that one of their children suffers from.
yahoo.com
Treatment
The condition cannot be cured, but symptoms can be reduced with the following treatments. It includes surgery, chemotherapy and radiation to cure or remove cancerous tumors.
Medication
Anticonvulsants: Have nerve-calming qualities that help relieve nerve pain.
Gabapentin . Pregabalin . Topiramate . Carbamazepine
Tricyclic antidepressants: Help in treating neuropathic pain.
Amitriptyline
Serotonin and norepinephrine reuptake inhibitors (SNRIs): Are a class of anti-depressant drugs. Some drugs, however, are used to treat nerve pain.
Duloxetine . Tramadol
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Diagnosis
One or more of these tests may be recommended by your medical provider.
Diagnosis involves examination of symptoms and detailed information about family history.
Common tests & procedures
X-ray: X-ray of bone is taken to detect bone abnormalities or tumors in the brain.
CT scan: Identify bone abnormalities, tumors in the brain or spinal cord.
Magnetic resonance imaging (MRI): To detect bone abnormalities, tumors in the brain or spinal cord. MRI provides more details than X-Ray or CT Scan.
Genetic test: To get the detailed information about NF1 and NF2 genes.
Biopsy: To check if it is cancerous.
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Source: Focus Medica. For informational purposes only. Consult a medical professional for advice. | Disclaimer: Opinions are from external health professionals and should not be considered as Microsoft's opinion or a substitute for professional help. Consult a health professional for medical advice.
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Table of Contents
Overview
Causes
Symptoms
Is there a cure for neurofibromatosis?
Treatment
Health guide
Diagnosis