Sketchy Path: Neuro - "Neurofibromatosis" Flashcards
NF-1 is a mutation in which chromosome?
17
What inheritance pattern does NF-1 have?
- Autosomal dominant (dominant domino sign)
* 100% penetrance (coffee beans 100% Peruvian)
What protein is broken in NF-1?
- Tumor suppressor (cancer-fighting ribbon)
* RAS (like the rat being swept away)
Review the signs/symptoms of NF-1.
- Café-au-lait macules (spilled coffee on barista’s apron)
- Axillary freckling (spots on her apron)
- Lisch nodules in the eye (like the deLISCH mocha advertised on the counter)
- Neurofibromas, which are benign growths of Schwann cells (like the swirled latté)
- Optic gliomas (like the lights with bulges in them)
- CNS tumors of other kinds, like meningiomas, astrocytomas, and gliomas
- Pheochromocytoma (rainbow frappé)
Optic gliomas have what pathologic characteristics?
- Rosenthal fibers (red strands by stars)
* Astrocyte derivation (stars)
NF-2 results from a mutation in ________________.
the tumor-suppressor protein Merlin on chromosome 22 (like Merlin in the poster with 22 on his cloak)
NF-2 has what inheritance pattern?
AD (like the dominant domino)
NF-2 causes what pathologies?
- Bilateral acoustic Schwannomas (kid with white headphones)
- Meningiomas (girl with dural beanie)
- Cataracts (girl with white glasses)
- Spinal Schwannoma (guy with headphone microphone placed conspicuously on his back)
Acoustic Schwannomas can cause what signs/symptoms?
- Dysequilibrium (kid having trouble carrying coffees)
- Nystagmus (dropped cups with eyes on the bottoms)
- Facial numbness (girl trying to feel her face)
- Facial paralysis (guy with droopy face)
Both kinds of NF will stain for ________________.
S-100 (the marker for neural crest cells)
Think of the Spresso-100 machine and the total of $100 on the other side.
