Important Genetic Disorders

Question 1

NF-I Von-Recklinhausen’s

Answer 1

inherited pns tumor syndrome
AD
(1) neurofibromas
(2) optic gliomas
(3) lisch nodules 
(4) cafe au lait

Question 2

NF-II

Answer 2

AD
Bilateral acoustic schwannomas
Multiple meningiomas
ependymomas of spinal cord
gliomas

Question 3

Sturge Weber

Answer 3

Neurocutaneous
Cutaneous facial angiomas - port wine stain on face
leptomeningeal angiomas (capillary venous malformations)
V1 V2 distribution
Mental retardation / seziures / hemiplegia / skull radiopacities (tram track calcification)

Question 4

Tuberous sclerosis

Answer 4

liver cysts
ash leaf patches
kidney cysts
pancreatic cysts
subependymal hamartomas
cutaneous angiofibromas
renal angiolmyolipomas (if*** bilateral 90% have it)
cardiac rhabdomyomas***
seizure too

Question 5

Osler Weber Rendu

Answer 5

hereditary hemorrhagic telangiectasia
frequently present with recurrent epistaxis or GI bleeds
AD

Question 6

Von Hippel Lindau

Answer 6

cerebellar hemangioblastomas
retinal hemangiomas
congenital kidney, liver, pancreatic cysts
*** high risk for bilateral renal cell carcinoma

Question 7

orbital floor fracture herniation into?

Answer 7

maxillary sinus get herniated from here