brain neoplasm and peds neuro

Question 1

What is the most common malignant brain tumor in children?

Answer 1

medulloblastoma; can send “drop mets” to the spinal cord. due to a primitive neuroectodermal tumor

Question 2

What cells give rise to meningioma?

Answer 2

arachnoid cells. may have psammoma bodies

Question 3

What are the most common sources for brain mets?

Answer 3

lung, renal cell carcinoma, melanoma, breast, colorectal

Question 4

What are the diagnostic criteria for neurofibromatosis type 1?

Answer 4

chromosome 17. pts have at least 2 of the following:
1. >5 cafe au lait spots 1 neurofibromas
3. axillary or inguinal freckling
4. optic glioma
5. >1 iris hamartomas (lisch nodules)
6. bone lesions
7. first degree relative with NF1
COFFINS: cafe au lait spots, optic glioma, freckles, family hx, iris hamartomas, neurofibromas, skeletal lesions

Question 5

What are the functional ramifications of NF1?

Answer 5

may hae severe functional limits in gait and movement due to nonunion of bone fragments (pseudoarthrosis) and fractures during development
may have vision loss from optic glioma

Question 6

What are potential complications of NF1?

Answer 6

incr. risk of pheochromocytoma, seizures, peripheral neuropathy, and primary CNS tumors

Question 7

Sturge-weber syndrome:

Answer 7

STURGE: sporatic (non-inherited), port-wine stain, unilateral, retardation, incr risk of glaucoma, GNAQ gene, epilepsy due to ipsilateral leptomeningeal angioma

Question 8

tuberous sclerosis

Answer 8

HAMARTOMAS: hamartomas in CNS and skin, angiofibromas, mitral regurgitation, ash-leaf spots, cardiac rhabdomyoma, (tuberous sclerosis, autosomal dOminant), MR, renal angiomyolipoma, seizures, shagreen patches, incr. incidence of subependymal astrocytomas

Question 9

von Hippel Lindau

Answer 9

hemangiomas in skin, mucosa, organs, bilat renal cell carcinoma, hemangioblastoma in retina, brain stem, and cerebellum, pheochromocytoma.

Question 10

When should LP be performed after febrile seizure?

Answer 10

any child

Question 11

What enzyme is deficient in Tay-Sachs? How do you distinguish from Nieman Pick?

Answer 11

hexosaminidase A; GM2 ganglioside accumulates. Both Tay-sachs and Nieman pick have cherry red macula but Tay-Sachs does NOT have hepatosplenomegaly

Question 12

What is a major complication of lower neural tube defects and how is it treated?

Answer 12

hydrocephalus; often requires shunting

Question 13

What other tumors are children with retinoblastoma tumor suppressor mutations at risk for?

Answer 13

osteosarcoma