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Flashcards in pediatric Deck (40):

prader willi syndrome

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


angelman syndrome

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.


fragile x syndrome

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


von hippau-lindau syndrome

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


tuberous sclerosis complex (TSC)

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.



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


TSC derm sx

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)


neurocutaneous syndromes

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


neurofibromatosis type II

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



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


sturge weber syndrome

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


acute disseminated encephalomyelitis

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


rett's syndrome

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


lesch nyhan disease

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.


erb's palsy

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.


klumpke's paralysis

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.



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


oligodendroglioma genetics

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


dermoid cyst

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


arachonoid cyst

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


epideroid cyst

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.



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.



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.



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



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



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


glomus jugulare tumor

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



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


esthesioneuroblastoma (ENB)

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



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


hypothalamic hamartoma

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


pituitary adenoma

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



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


pituitary adenoma presentaiton

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


evaluate pituitary adenoma

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


pituitary adenoma tx

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


pituitary apoplexy

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.


nonaneurysmal perimesencephalic subarachnoid hemorrhage

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



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 of incr ICP.


rathke's cleft cyst

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