Neurofibromatosis Flashcards
Type 1 neurofibromatosis signs
Café au lait spots in 1st yr of life
Freckles in skin folds e.g. axilla, neck base
Nodular neurofibromas from nerve trunks
Lisch nodules (brown mounds) on iris (use slit lamp)
Short stature + macrocephaly
Type 1 neurofibromatosis complications
Nerve root compression by neurofibromas
Mild learning disability common
Phaeochromocytoma/renal artery stenosis causes HT
Type 1 neurofibromatosis management
Multidisciplinary team with geneticist, neurologist, surgeon + physio
Yearly cutaneous surveys + BP measurement
Excise dermal neurofibromas only if troublesome
Type 2 neurofibromatosis signs
Café au lait spots fewer than NF1
Bilateral vestibular schwannomas (acoustic neuromas) causing sensorineural hearing loss at ~20yrs, benign tumours
Juvenile posterior subcapsular lenticular opacity (sort of cataract) early on
Type 2 neurofibromatosis complications
Schwannomas
Meningiomas
Glial tumours less commonly
Type 2 neurofibromatosis management
Hearing tests yearly from puberty, in affected families
MRI in late teens to assess risk to offspring, clear scan at 30yrs indicates gene not inherited
Treatment of vestibular schwannomas neurosurgically
Type 2 neurofibromatosis prognosis
Mean survival ~15yrs from diagnosis
Schwannomatosis
Multiple tender cutaneous schwannomas without bilateral acoustic neuromas seen in NF2, seen on whole body MRI
Normal life expectancy
NF1 diagnosis criteria
2 of: >5 café-au-lait macules >5mm pre-pubertal/>15mm post >1 neurofibroma Freckles in skin folds Optic glioma >1 Lisch nodule Distinctive osseous lesion typical of NF1 1st degree relative with NF1
NF2 diagnosis criteria
Either:
Bilateral vestibular schwannomas seen on CT/MRI
1st degree relative with NF2 + unilateral vestibular schwannoma/ (neurofibroma/ meningioma/ glioma/ schwannoma/ juvenile cataract)
