10-16 L2 Neuropathology (development) Flashcards
1
Q
If a pt has bilateral schwannomas you should suspect?
A
- NF2 (Neurfibromatosis type 2)
- nutation in Chromosome 22
2
Q
How is lissencephaly present in males vs females
- name the gene and reasoning
A
- due to a doublecortin mutation
- presents in males?females b/c its a X-linked disease
3
Q
Anecephaly
A
a failure of forebrain developement due to a disruption 28 days gestation,.
The brain and calvarium depend on mutual signalling to develop the result is a mass of disorganized brain tissue (‘area cerebrovasculosa’)
4
Q
Describe an S-curve or the term ‘kinking’
A
Downward displacement of dorsal meduula relative to ventral medulla
