Neurofibromatosis Flashcards
Define Neurofibromatosis
Genetic disorder (AD) that causes numerous benign nerve tumours and numerous very varied neurological signs
commonly associated with Cafe-au-lait spots, endocrine, gastro, bones and other issues
Aetiology and risk factors of neurofibromatosis
Mutation of NF1 gene-loss of function-AD inheritance but tumours happen if you lose BOTH copies
NF1 mutation causes RAS dysfunction (oncogenic)-tissue specific dysplasia and neoplasia
Risk factors:
Mainly genetic-so present young
Penetrance of NF1 is virtually 100% so having it-greatest risk factor
Severe trauma in patients with NF1 mutations can lead to neurofibromas
Family Hx of Neurofibromatosis
Epidiemology of Neurofibromatosis
about 1 in 2500
1/3 of all cases are NEW mutations of NF1 happening in the Egg
No ethnic or geographical trend
Signs and symptoms of Neurofibromatosis
Abnormal pain-due to growing neurofribomas
Neuro : common: gross motor delay, general incoordination, school issues
Rarer (15%)-vision issues
Rare-Trigeminal nerve issues (5%)-often misdiagnosed
Seizures/hydrocephalus/brain tumour
PNS-tumours around peripheral nerves-tender medium hard nodules in brachial plexus/groin
Skin-cafe au last spots (transient darker spots)-
subcutaneous ones are BAD-tiny small spots everywhere,
EYE-optic disc pale, vision issues
DIAGNOSTIC-lisch nodules (yellow spots in iris)
GI-constipation, abdopain, GI bleed
Vascular-hypotension or heammorghage
Autism (20-40% of NF1 have autism)
Investigations for Neurofibromatosis
MRI and or CT-will show the tumours in the locations (optic gliomas, brain tumours, etc)
Genetic testing-confirms the NF1 mutation
