pediatric

Question 1

prader willi syndrome

Answer 1

mental retardation, obseity pica, hypotonic as infant. deletion of paternal contribution of chromosome 15

Question 2

angelman syndrome

Answer 2

severe mental retardation. sleep disturbance, seizure, jerky mvt (hand flapping), freq laughter or smiling, happy demeanor. cause by loss of normal maternal contribution to a region of chromosome 15.

Question 3

fragile x syndrome

Answer 3

single gene cause of autism. most common inherited cause of intellectual disability. trinucleotide repeat

Question 4

von hippau-lindau syndrome

Answer 4

auto dom. multiple hemangioblastoma of eye and brain. neuro sx minimal unless rupture of a CNS hemangioblastoma. similar lesion can be found in kidney and pancreas

Question 5

tuberous sclerosis complex (TSC)

Answer 5

variable combo of mental retardation, seizures, adenoma sebaceous which are angiofibroma that appear on face as red papillose. kidney, heart eyes, lungs affected.
must of TSCI on chromo9 -hamartin or TSC2 on chromo 16-tuberin. 2/3 from sporadic gene mut. 1/3 inherited auto dom.

Question 6

TSC MRI

Answer 6

4 features

1) cortical tubers
2) subependymal nodules-
3) ventriculomegaly
4) subependymal giant cell atrocytoma- benign tumor, clinically silent but may obstruct ventricular system- need surgical removal

Question 7

TSC derm sx

Answer 7

ash leaf spot, shagreen’s patch( raised area of harden skin on lower back), adenoma sebaceum (facial angiofibroma- specific for TS), ungulate fibroma (nodular fibromas under nails)

Question 8

neurocutaneous syndromes

Answer 8

phakomatosis: neurofibromatosis type I/II, TS, VHL syndrome, sturge weber syndrome

Question 9

neurofibromatosis type II

Answer 9

mut on chromosome 22. multiple schwannomas, meningiomas, ependymomas. present by age 20, usually with CN deficit from tumor. ex can’t hear from ears.

Question 10

NF1

Answer 10

mut on chrom17. more common than NF2. present bf 5yo with seizure, mental retardation, painful neuropathies from peripheral neurofibroma, cafe au laits spots, plexiform neurofibroma, axillary freckling, optic gliomas, thinning of long bones

Question 11

sturge weber syndrome

Answer 11

congenital disorder. seizure start in infancy, most mental retard, port wine stain birthmark- caused by over growth of capillaries. in distribution of 1st division of trigeminal N. neuronal loss and calcification in cerebral cortex IP to birthmark. glaucoma common. may beed hemispherectomy to prevent seizure

Question 12

acute disseminated encephalomyelitis

Answer 12

acute inflm disease that follows an infection. presents with encephalopathy and seizures, confusion.

Question 13

rett’s syndrome

Answer 13

only in girls. grow and dev normally but subtle abn in early infancy-hypotonia, difficluty feeding, jerkiness in limb mvt. cog and physical begin age 1-4. lose purposeful use of hands and ability to speak –> convulsive hand mvt (singing and washing). problem crawling or walking, decr eye contact

Question 14

lesch nyhan disease

Answer 14

x-linked disorder caused by nut of hypoxanthine guanine phosphoribosyl transferase enzyme. hypotonia, mental retard. self mutilation. whew off fingers. incr uric acid in serum. prone to gout and kidney stones.

Question 15

erb’s palsy

Answer 15

damage to upper brachia plexus C5-6. causes: difficult delivery, MVA where next is stretched away from shoulder. in newborn present as flaccidity and medial rotation of arm. atrophy of biceps and brachioradialis M (the extensors). waiter’s tip.

Question 16

klumpke’s paralysis

Answer 16

damage C8-T1. occur with arm pulling in childbirth, having on tree, paralysis effects the intrinsic M of hand and flexor of wrist/fingers. result in total hand claw or ape hand.

Question 17

oligodendroglioma

Answer 17

hypodense mass with flecks of calcification. 5-10% of primary CNS tumor. W/M
more calcificaiton than glioma. low grade or anapestic by presence of necrosis, vascular prolif, number of mitosies, nuclear atypic. better clinical response compared to astrocytoma. tumor with high astrocytic component = worse prog= oligcoastrocytoma

Question 18

oligodendroglioma genetics

Answer 18

69% cases show deletion in 1p and 19q. tumor w/o this have poorer prog + decr responsiveness to chemo.

Question 19

dermoid cyst

Answer 19

from dermis layer. most at CP angle or midline area of brain. in 4th V. gradually enlarge- sx due to mass effect. may rupture into subarachnoid space or V –> HA and sx of meningeal irritation = chemical meningitis - morbidity due to vasospasm and ischemia.
imaging- isodense to fat. CT- hypodense to CSF, T1- fat is bright. calcification common

Question 20

arachonoid cyst

Answer 20

benign sacs filled with CSF btw arachnoid and brain. most in middle cranial fossa outside temporal lobe. 10% in supraselar region. usually congenital abn due to failure of arachoinoid membrane to fuse- CSF flow into cleft. or arise after trauma, surgery. M>W.
can be drained if sx. - hypoplasia of adj brain structure.
D epidermod cyst. follow intensity of CSF on all seq

Question 21

epideroid cyst

Answer 21

congenital extraaxial cyst found in midline, suprsellar, pineal region. CP angle, epidermall cells arise from embryonic epic rests. mature epic cell in center of cyst - keratin and cholesterol crystal. prolif epic cells line periphery of cyst. many incidental finding- some sx due to mass effect.
imaging:diffusion restriction, isodense to CSF, irreg border.

Question 22

schwannomas

Answer 22

any CN expect optic and olfactory (oligodendrocytes). most commonly arise from vestibular portion of vestibulocochlear N. mostly benign. slowly progressive hearing loss. less dizziness bc grow slow so brain compensates. resect to prevent hearing loss but complication is damage to CN7- unilateral facial paralysis. next most common is CN5.

Question 23

neurocystoma

Answer 23

usually in lateral ventricle next to septum pellucid near foramen of mono. 20-40s. sing of incr ICP, especially if block foramen of monro - 3rd V. benign-. tx resection.
varible enhancement in contrast. has cystic component.

Question 24

ependymomas

Answer 24

empydemal cells that line ventricle. bimodal age of distribution 1-5yyo and 20-30s. child- 4th V from posterior of brainstem. adult- lumbosacral portion of SC.
3rd most common tumor in posterior fossa in children behind JPA and meduloblastoma.
50% calcified- so use CT
hemorrhage common
fill 4th V and expand through foramen of luschka, magendie, magnum.
can compress medulla, and SC.
present with sign of incr ICP, hydrocephalis, spread from 4th V to SC via CSF- drop metastases

Question 25

medulloblastoma

Answer 25

pediatric tumor from primitive neroextoderm of cerebellar vermis in 4th V. tumor that arise from this tissue are PNETs. sx- incr ICP. M>W- 20% of all childhood brain tumor.
surgery, rad, chemo

Question 26

plasmacytoma

Answer 26

mass of malign monoclonal plasma cell in either bone or soft tissue.

Question 27

glomus jugulare tumor

Answer 27

type of paragangliomas. uncommon neuroendocrine neoplasm. in jugular foramen- compress CN9-11+ gloss body (fiber that ctrl body temp and BP). present with tinnitus, hearing loss, or sx of compressed N of jugular foramen. >60yo see salt and pepper sign

Question 28

sarcoma

Answer 28

most common is wings. meta to soul- invade underlying brain tissue

Question 29

esthesioneuroblastoma (ENB)

Answer 29

olfatory neuroblastoma. rare. originate from olfactory neuroepi in cribriform region of nasal septum

Question 30

chordomas

Answer 30

tumor that arise from remnant of notochord that didn’t properly form bone. in sacrum r from sphenoid bone and cloves. benign, locally invasive, can meta. in adolescent and young adult - pain from bone destruction and cranial neuropathy.
surgery + chemo
high recurrence

Question 31

hypothalamic hamartoma

Answer 31

arise from tuber cinereum- part of hypothalamus. btw mammillary bodies and optic chasm at floor of 3rd V. benign. precious puberty and elastic seizure

Question 32

pituitary adenoma

Answer 32

slow growing, benign. arise from 1 of the cell types in anterior lobe of pituitary gland.
most common tumor in sella region
10% of primary intracranial tumor
>10mm is macroadenoma, <10mm is microadenoma.
most not hormonally active.
prolatinoma, GH secreting tumor, ACTH secreting tumor
can present with panhypopituitarism if compress pituitary stalk or gland

Question 33

panhypopituitarism

Answer 33

lethargy, growth failure, diabetes insipidus, hypogonadism, hypoadrenalism.

Question 34

pituitary adenoma presentaiton

Answer 34

1) hormonarlly active
2) compression- mass effect
a) cranial neuropathy if involve cavernous sinus
b) bitemporal hemianopsia if compress optic chiasm
c) homonyous hemianopsia if optic tract is affected posterior to optic chiasm
d) personality changes if affect frontal lobe
e) seizure if effect medial temporal lobe

Question 35

evaluate pituitary adenoma

Answer 35

contast MRI. visual field perimetry testing. screen carefully for endocrine dysfunc.

Question 36

pituitary adenoma tx

Answer 36

resection is often curative. transsphenoidal approach with endoscope preferred.
adj stereotactic radiotherapy in nonfuncting tumor
medical therapy only for hormonally active.
need possible lifetime normal replacement

Question 37

pituitary apoplexy

Answer 37

occur when there is acute hemorrhage within pituitary gland.
may occur in preexisting adenoma or be a feature of tumor
may be in pt with HTN, diabetes, SCD
sheen’s syndrome if post part.
present: severe acute HA, visual loss, ophthalmoplegia. neuro emergency bc can die from subarachnoid hemorrhage. any pt with visual changes or loss of consciousness should get emergent surgical decompression.
hypopituitarism is common even in treated pt.

Question 38

nonaneurysmal perimesencephalic subarachnoid hemorrhage

Answer 38

acute blood in cistern anterior to brainstem. subtype of SAH. due to rupture of venous or arterial capillary.
angiogram to rule out aneurysm.

Question 39

craniopharyngioma

Answer 39

slow growing. arise from cells along pituitary stalk from Rathke’s pouch. children and male. present with visual disturbances due to compression of optic chiasm. endocrine disfrunc due to compression of pituitary or hypothalamus.sx of incr ICP.

Question 40

rathke’s cleft cyst

Answer 40

benign fluid filled cyst. in center of pituitary. congenital malformation due to incomplete dev of partake’s pouch.