Neurocutaneous disorders/Tumors

Question 1

1) Congenital, non-inherited (somatic)
2) Autosomal dominant with incomplete penetrance
3) Autosomal dominant with mutated tumor supressor gene 4) on chromosome 17
5) Autosomal dominant with mutated tumor supressor on chromosome 3
6) Autosomal dominant with mutation in tumor supressor on chromosome 22

Answer 1

1) Sturge weber
2) Tuberous sclerosis
3) NF1 (von-Recklinghausen)
4) von-Hippel-Lindau
5) NF2

Question 2

developmental anomaly of neural crest derivates (mesoderm/ectoderm) activating mutation of GNAQ gene. Port-wine stain of face (CN V1/V2) distribution. Ipsilateral leptomeningeal angioma causing seizures. Episcleral hemangioma causing glaucoma b/c increased IOP

Answer 2

Sturge-Weber Syndrome

Question 3

Presence of angiofibromas, cardiac rhabdomyoma, angiomyolipoma, shagreen pathches, mitral regurgitation

Answer 3

Tuberous sclerosis

Question 4

Cafe au lait spots, lisch nodules, neurofibromas in skin, optic gliomas, pheochromocytomas

Answer 4

NF1

Question 5

Cavernous hemangiomas of skin, mucosa, organs, bilateral renal cell carcinomas, hemangioblastoma in retina, brainstem, and cerebellum. HIF constitutive expression and activation of angiogenic growth factors

Answer 5

von-Hippel-lindau disease

Question 6

von Recklinghausen (17 letters=chromosome 17) was a good bro (pheobromocytoma). He negatively regulated RAScals and took you to the Cafe (cafe au lait spots). He couldn’t see on weekends (optic glioma), but always had a twinkle in his eye (lisch nodules)

Answer 6

NF1

Question 7

What do tuberous sclerosis have an increased incidence of?

Answer 7

subependymal astrocytomas and ungual fibromas

Question 8

What causes seizures/epilepsy in sturge-weber?

Answer 8

ipsilateral leptomeningeal angioma

Question 9

What causes early onset glaucoma in sturge weber

Answer 9

increased IOP due to episcleral hemangioma

Question 10

bilateral acoustic neuroma, meningioma, ependymoma, juvenile cataracts

Answer 10

NF2