Neurofibromatosis Flashcards
What is Neurofibromatosis?
A genetic disorder causing non-cancerous tumors to grow on nerves.
What are the symptoms of Neurofibromatosis Type 1 (NF1)?
Symptoms include:
* Neurofibromas
* Café au lait spots
* Behavioral issues
* Eye issues (optic pathway gliomas)
* Physical development delays
What are the characteristics of Neurofibromatosis Type 1 (NF1)?
Inheritances characteristics
NF1 is:
* Autosomal dominant
* Affects mostly skin
* Chromosomal mutation on chromosome 17
What is a common symptom associated with Neurofibromatosis Type 2 (NF2)?
Worsening hearing loss.
What is the genetic basis for Neurofibromatosis Type 2 (NF2)?
Mutations in the NF2 gene on chromosome 22.
What are common diagnostic tests for NF2?
Hearing tests and imaging studies.
What percentage of NF2 cases involve mosaic Neurofibromatosis?
1/3 of cases.
Fill in the blank: NF1 is characterized by _______ tumors.
neurofibromas.
True or False: There is a cure for Neurofibromatosis Type 2 (NF2).
False.
What are some treatment options for NF1?
Treatment options include:
* Monitoring
* Surgery to remove tumors
* Physiotherapy
* Pain management
What strategies are available for genetic counseling regarding Neurofibromatosis?
Genetic counseling strategies include:
* Donor egg/sperm
* Adoption
* Genetic screening during pregnancy
What physical issues may arise from NF1?
Physical development delays and behavioral issues.
What are the behavioral issues associated with NF1?
ADHD and ASD.
What are Schwannomas?
Tumors that can lead to hearing loss and balance issues in NF2.
What is the common age range for the onset of malignant peripheral nerve sheath tumors in NF1?
20s to 30s.
Fill in the blank: A common skin manifestation of NF1 is _______.
café au lait spots.
What is the role of psychological support in managing Neurofibromatosis?
To help patients cope with the emotional and psychological effects of the condition.
What is a common treatment for hearing loss in NF2 patients?
Hearing aids.
Describe neurofibromas
Appear in NF1:
- develop later in life
- benign tumours
- in/under skin
- numbness, bleeding, weakness etc…
What are large plexiform neurofibromas
Where neurofibroma tumours in NF1 develop where nerve branches come together
Especially painful!
What physical developmental problems affect those with NF1
- scoliosis
- macrocephaly
- lower weight and size
