Pathology

Question 1

What is meretoja syndrome?

How do u test for it?

Answer 1

Systemic amyloidosis

Path with Congo red or apple green birefringence

Question 2

Flexner wintersteiner rosettes

What’s dx?
What do they look like?
What r other path findings?

Answer 2

Rb
Single row of columnar cells around central lumen
Other Findings:
-Homer wright rosettes (no lumen)– non specific
-fleurettes
-pseudo rosettes (circumferential cells around blood vessel)

Question 3

What’s most common secondary tumor in RB?

Answer 3

Osteogenic sarcoma of femur

Question 4

What chromosomes are associated with:

• NF type 1
• NF Type 2
• Sturge-weber
• Von hippel lindau
• tuberous sclerosis
• ataxia-telangiectasia
• wyburn-mason

Answer 4

Chromosomes:
17 -NF type 1
22 -NF Type 2
None -Sturge-weber
3 -Von hippel lindau
9 -tuberous sclerosis
11 -ataxia-telangiectasia
None -wyburn-mason

Question 5

Findings of NF 1

Ocular and non-ocular

Answer 5

• Plexiform neurofibroma upper lateral lid (bag of worms)
• lisch nodules (iris hamartomas)
• ON gliomas (pilocytic astrocytoma)
• absence of sphenoid wing – pulsating proptosis

Cafe au lait
Axillary freckling
Peripheral nerve sheath tumors

Question 6

Findings of NF2

Answer 6

Bilateral cerebello pontine angle tumors – acoustic neuromas
PSC cataract
Meningioma, schwannoma, neurofibroma, glioma

NO lisch nodules!

Question 7

Tomato catsup fundus

Dz?

Answer 7

Sturge weber

• non hereditary
• port wine stain “Nevus flammeus”
• glaucoma from inc episcleral venous pressure
• leptonmeningeal vascular malformation ipsilateral
• sz
• pheochromocytoma

Question 8

Retinal lesion
Round orange red mass fed by dilated tortuous ret artery with engorged vein
Dz?

Answer 8

VHL
retinal angioma
Also: 
-hemangioblastoma of cerebellum (most common), or pons, medulla, spinal cord
-visceral
  -Renal cell carcinoma, 
  - Pheochromocytoma
  - tumors or cysts of kidney adrenal liver pancreas
  -

Question 9

Mulberry shaped retinal lesion

Lesion?
Dz?
Other findings?

Answer 9

Astrocytic hamartoma of retina

Tuberous sclerosis
-Autosomal dominant

• ash lead spots
• adenoma sebaceous (facial angiofibroma)
• shagreen patch
• subependymal hamartoma
• mental retardation
• seizures

Question 10

Cluster of grapes

Lesion?
Dz?

Answer 10

Retinal CAVernous hemangioma

Not a named Neuro cutaneous dz… But can be assoc w cutaneous or CNS lesions