Neurocutaneous

Question 1

sturge weber

Answer 1

angiomas of meninges, face, brain. unique amongst phakomatoses bc it is a sporadic D wo a hereditary component.
clinic: seizure from infancy. port wine stain birthmark usually in ophthalmic branch of trigeminal N. neurnal loss and calcification in cerebral cortex IL to birthmark. often posterior brain affected and frontal spared
tramtrack pattern
other sx: mental retardation, glaucoma

Question 2

NF1 v NF2

Answer 2

skin lesions common in 1 not .2.

Question 3

tuber sclerosis MRI

Answer 3

1) cortical tuber- due to poor myelination or dysplasia of WM
2) subependymal nodules
3) ventriculomegaly
4) subependymal gian t cell astrocytomas (SEGAs)

Question 4

subependymal giant cell astrocytoma

Answer 4

benign tumor wo anaplastic potential that arise from subependyma and project into lateral ventricle. often abut septum pellucidum. variable signal on CT and MRI deep on degree of calcification,
clinically silent unless obstruct ventricular system= need resection. associated with tuberous sclerosis complex

Question 5

UBO

Answer 5

unidentified bright objects. common in NF1. numbs foci of hyper intensity on T2 concentrated in BG, cerebellum, brainstem. represent areas of prolif of glial cells. may spontaneously resolve or become location for future neoplasm