Commonly tested pathology syndromes

Question 1

Von Recklinghausen’s disease

Answer 1

neurofibromatosis type 1

neurofibromas, optic nerve gliomas
lishc nodules (pigmented nodules on the iris)
cafe au lait spots (hyperpigmented cutaneous macules)

Question 2

main two features of neurofibromatosis type 2 (Autosomal dominant)

Answer 2

bilateral cranial nerve V III schwannomas and multiple meningiomas

Question 3

major clinical featues of Sturge weber syndome

Answer 3

encephalotrigeminal angiomatosis

neurocutaneous disorder characterized by facial angiomas and leptomeningeal angiomas
skin involvement overlays opthalmic (V1) and maxillary (V2) distributions of trigeminal nerve

associated with mental retardation
seizures
hemiplagia
skull radiopacities with skull x-ray showing “tram-track” calcifications

Question 4

major clinical features of tuberous sclerosis:

Answer 4

cortical and subependymal hamartomas
cutaneous angiofibromas (adeoma sebaceum)
visceral cysts and other hamartomas
renal angiomyolipomas
cardiac rhabdomyomas

Question 5

what is the most common complication of tuberous sclerosis?

Answer 5

seizures

Question 6

what is osler-weber-dendu syndrome?

Answer 6

hereditary hemorrhhagic telangiectasia

autosomal dominant congential tangiectasias
rupture causes epistaxis and GI bleeding or hematuria

Question 7

pt presents with cerebellar hemangioblastoma in association with congential cysts of the kidneys/ liver or pacreas. What was the likely Dx?

Answer 7

Von Hippel-Lindau disease

autosomal dominant

Question 8

What is the cause of von hippel-lindau disease?

Answer 8

look it up!

Question 9

what is the cause of Peutz Jeghers disease?

Answer 9

autosomal dominant mutations in erene/threonine kinase 11 (STK11) on chromasome 19

Question 10

how does Peutz-jeghers syndrome present clinically?

Answer 10

mild abdominal discomfort in a kid (e.g. 12 yr old) who has pigmented mucocutaneous macules around the lips and buccal mucosa – look like freckles! may also be on hands and feet.

numerous hartomatous polyps are present in the GI tract

intestinal bleeding can result from intussesception, obstruction, or malignant transformation

skin lesions are not present at birth