Tumors

Question 1

Q.Several small pink nodules in the irises of a young ptn, with several light-blown macules ( cafe-au-lait spots ) on the trunk, what’s your diagnosis?

Answer 1

Neurofibromatosis 1 ( Von Recklinghausen disease )

Question 2

Q. Child presented with headache, after fundoscopic examination, papillidema was found. One retina shows vascular tumor CT shoes cerebellum cystic tumor. What’s your diagnosis?

Answer 2

Von-Hipple-Lindau disease ( deletion of gene VHL on chromosome 3p )

Question 3

Q. Ptn with Von-Hipple-lindau disease is at risk of developing what later in life?

Answer 3

Bilateral renal cell cancer

Question 4

Q. What’s the most common malignant eye tumor in childhood?

Answer 4

Retinoblastoma

Question 5

A. What’s the difference between Familial retinoblastoma and sporadic type?

Answer 5

Familial is often bilateral or multifocal while sporadic is ALWAYS unifocal and unilateral

Question 6

Q. In case of retinoblastoma. the gene mutation is found on what chromosome? Number what?

Answer 6

Number 13

Question 7

Q. Ptn complaining of heavy eyelids & double vision in the evening, what’s your diagnosis and what is the possible cancers ass. With this condition?

Answer 7

Thymoma or bronchogenic carcinoma