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Neurofibromatosis - Coggle Diagram
Neurofibromatosis
What is it
Genetic neurological disorder that affects the brain, spinal cord, nerves, and skin
There are two types
Type1: more common, occurring in 1 in 4,000 births
Type 2: more rare, occurring in 1 in 40,000 births
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Tumors, or neurofibromas, grow on the body's nerves or under the skin
Symptoms
Type 1
Light brown spots on skin, increased freckles in the armpits and groin areas
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Symptoms vary for everyone, skin related symptoms are present at birth and the tumors grow from age 10-15
Type 2
Tumors along the 8th cranial nerve, spinal cord, and brain
Hearing loss, deafness, constant ringing in the ear
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Diagnosis
Type 1
Children must be experiencing 2 symptoms and possibly go through a physical examination looking for the brown spots on the skin
MRI, X-Rays, CT scans and blood tests can be used to look at defects in the NF1 gene
Type 2
Hearing loss is considered carefully, by using hearing tests and imaging tests, to look for formation of tumors
Audiometry and brainstem auditory response tests can determine if 8th cranial nerve is working properly
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Genetic testing is used before birth to identify if a child may have NF but will not be able to predict the severity
Treatment
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Surgery can be performed to remove tumors, but tumors may regenerate
For type 2, hearing aids are only helpful if part of the auditory nerve is not removed. FDA just approved an auditory brainstem implant that can help people hear certain sounds even if the auditory nerve has been removed
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Heredity
Type 1 and type 2 are caused by two different gene mutations and both can be inherited or caused by a mutation in the specific genes
Autosomal dominant disorder so children have a 50% chance of inheriting the genes that cause NF if one parent has NF
If NF is inherited from a parent, the type will be the same but severity and symptoms will vary