Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

CNS > Prayson Pediatrics > Flashcards

Prayson Pediatrics Flashcards

1
Q

Neural tube closure occurs at

A

4th week, failure of close is dysraphism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Craniorachischisis totalis

A

total neural tube closure failure, brain and spinal cord exposed. Assoc w/ maternal DM, hyperthermia, and anticonvulsants. increase serum alpha-fetoprotein and amniotic acetylcholiesterase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Anencephaly

A

Defective closure of the rostral end of the neural tube. brain absent or rudimentary (area cerebrovasculosa), eyes well formed, absence or hypoplasia of pituitary (50%), cerebellum and brainstem usually absent. Females>males. Fatal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Encephalocele

A

Protrusion of brain and meninges through congenital opening of skull, usually occipital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Meckel-Gruber Syndrome

A

autosomal recessive, occipital encephalocele, polydactyly, polycystic kidneys, hepatic fibrosis and sloping forehead

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Meningomyelocele

A

leptomeninges and cord through vertebral defect, assoc w/hydrocephalus, chiari type II, and other spinal cord anomalies. Lesions above T12 more commonly assoc. w/ other lesions and more common in females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Hydromyelia

A

congenital dilation of the central canal, associated with meningomyelocele and Chiari malformation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Syringobulbia

A

Cavitary lesion in medulla/pons, often assoc w/ syringomyelia. Produces nystagmus, ataxia, facial sensory loss, and bulbar palsy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Syringomyelia

A

cavitation of the cord, usually cervical or thoracic, associated with intramedullary tumors (ependymoma), Chiari type 1, kyphoscoliosis, Charcot’s joints. Cuases wasting and weakness of the hand and forearm muscles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Alobar Holoprosencephaly

A

monoventricular small cerebrum wit no division of lobes, absent olfactory bulbs and tracts, facionasal malformaions. Brain stem and cerebellum usually normal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Semilobar holoprosencephaly

A

Incomplete lobe formation, with a shallow interhemispheric fissure. absent olfactory bulbs and tracts. facionasal malfromation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Lobar holoprosencephaly

A

Only most rostral and ventral regions of the frontal lobes are not well formed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Chiari Type I

A

Downward herniation of cerebellar tonsils, usually asymptomatic. Assoc w/ syringomyelia (50%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Chirai Type II

A

Cerebellar malformations , displacement of the vermis below the foramen magnum, elongation and downward displasement of the inferior vermis, medulla, and cervical cord. Beaking. Malformation of basocranial bones, klippel Feil,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Chiari Type III

A

Occcipitocervical or high cervical bony defect with herniation of cerebellum through the defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Dandy-Walker Syndrome

A

Hypoplasia or aplasia of cerebellar vermis and cystic dilation of the 4th ventricle. Mental retardation in 25-50%, compatible with normal life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Malformations of cortical develop by what week

A

16th week of gestation. Assoc w/ tuberous sclerosis, NF1, epidermal nevus syndrome, gnaglioglioma, and DNET

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Miller Dieker Synd

A

Autosomal dominant, LIS-1 gene. Agyria (lissencephalyt) upturned nose, bitemporal hollowing, small chin, long upper lip, and low set ears. Siezures and mental retardation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

First fissures form when?

A

5th month

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Secondary sulci form?

A

3rd trimester (29 -40 weeks, months 7-9)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Tertiary sulci form when?

A

3rd trimester to 6 months of age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Lissencephaly type I

A

Agyria, absence of convolution (gyri and sulci) except for inter-hemispheric and sylvian fissures with widening of the cortical thickness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Walker-Warburg

A

Hydrocephalus, agyria, retinal dysplasia, encephalocele; severe psychomotos retardation, fatal in infancy. POMT1 (protein O-mannosyltransferase 1) gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Lissencephaly type II

A

Cobblestone apperance with stippling of cortical surface, neurons overmigrate past pia. Assoc w/ Fukuyamas congenital muscular dystrophy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Zellweger syndrome

A

pachygyria and polymicrogyria, poor cortical layering. Peroxisome abnormality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Micropolygyria

A

Minature incomplete convolutions, abnormal cortical architecture, usually only 4 layers, neuronal migration abnormalities at 20-24 weeks gestation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Agenesis of corpus callosum

A

12-22 weeks gestation. Can be asymptomatic or mental retardation, seizures, and speech disturbances. Assoc w/ holoprosencephaly, pachygyria, schizencephaly, fetal alcohol syndrome, Aicardi synd., Meckel synd., Andermann synd, and Acrocallosal synd.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Agenesis of septum pelucidum

A

Assoc w/ agensis of the corpus callosum, holoprosencephaly, lateral ventricle and optic nerve defects, and septo-optic dysplasia (HEXS1 mutation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Cavum septi pellucidi

A

Seperation of the leaflets of the septum pellucidum, usually closes around birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Trisomy 21

A

Down Syndrome; Rounded brain, reduced frontal lobe, decreased brain weight, basal ganglia calcifications, small brain stem and cerebellum vs cerebrum, focal loss of neurons in layer 3, poor myelination, Alzheimer like changes in middle age.

31
Q

Trisomy 13

A

Patau syndrome; Holoprosencephaly and arrhinenencephaly in 60% of cases. Cyclopia, microcephaly, agensis of corpus callosum, Dandy Walker

32
Q

Trisomy 18

A

Edwards Synd. Microcephaly, dolichocephaly, holoprosencephaly, dysplasia, disorganization of the LGN, malformed ears, pontocerebellar hypoplasia, and agensis of the corpus callosum

33
Q

Trisomy 9

A

Microcephaly, abnormal facies, wide cranial sutures, cystic dilation of the 4th ventricle and hippocampal dysplasia

34
Q

Aplasia of cerebellar vermis

A

Seen in Dandy-Walker synd and Joubert Synd

35
Q

Rhombencephalosynopsis

A

Fusion of the cerebellar hemisphers and dentate across the midline

36
Q

Ulegyria

A

Loss of tissue at sulci depth (mushroom) shrunken sclerotic gyri. Related to focal cortical ischemia/ hypoxia, watershed areas.

37
Q

Diffuse lobar sclerosis

A

Related to cortical ischemia, bilateral evenly distributed atrophy, “walnut brain” secondary white matter atrophy

38
Q

Multicystic encephalomalacia

A

Ischemia in infancy. Involves both white and gray matter, cystic cavities with glial septa containing macs (resolved infarct)

39
Q

Periventricular leukomalacia

A

Perinatal white matter ischemic injury, multifocal sharply circumscribe foci of necrosis, typically periventricular. Mineralized axons later. More common in premature (28-32 weeks).

40
Q

Perinatal telencephalic leukoencephalopathy

A

hypertrophic asrocytes, perivascular white matter globules, gram negative endotoxin effect on myelin formation

41
Q

Hydranencephaly

A

Bubble brain. Massive intrauterine hemispheric necrosis, usually carotid distribution. Membranous sacs of leptomeninges and gliosis. increased risk w/ twins

42
Q

Porencephaly

A

Infarct of MCA (most common), leseion extends from surface to ventricle.

43
Q

Schizencephaly

A

symmetrical clefts in line of primary fissures, involving the whole depth of the cerebral wall. Due to bilat. MCA hypoperfusion in utero

44
Q

Germinal Matrix hemorrhage Grade I

A

Cause perinatal anoxia, usually occurs in premature infants 22-30 weeks gestation; Limited to germinal matrix

45
Q

Germinal Matrix hemorrhage Grade II

A

Rupture of blood into ventricle without ventricular expansion

46
Q

Germinal Matrix hemorrhage Grade III

A

Ventricular enlargement (mortality is 74%)

47
Q

Germinal Matrix hemorrhage Grade IV

A

hemispheric parenchymal involvement (mortality is 74%)

48
Q

Pontosubicular necrosis

A

Neuronal necrosis in basis pontis and subiculum, more common in premature infants, assoc w/ white matter necrosis

49
Q

Status marmoratus

A

“Marbled state” Prinatal thalamic and or basal ganglia neuronal loss and gliosis causing a marbled look w/ irregular white mottlint and shrinkage of deep gray. 2/2 hypermyelination with glial scars caused by formation of myelin sheaths around astrocyte processes. can occur pre or postnatal, as long as hypoxia occurs before myelination at 6 monts. Choreoathetosis, spasticity, and motor defects

50
Q

Mobius syndrome

A

Necrosis of select cranial nerves, usually VI and VII. Masked facies and strabismus, skeletal abnormlaities and mental retardation

51
Q

Kernicterus

A

Pallidum, SN, hippocampus, Cranial nerver nuclie, inferior olive, and dentate. Assoc w/ erythrobalstosis fetalis and hyemolytic anemias. Increased risk with low albumin, respiratory distress, and acidosis

52
Q

Fetal alcohol syndrome

A

Dysraphism, holoprosencephaly, agensis of corpus callosum, porencephaly, microcephaly, hydrocephalus, cerebellar malformations, optic nerve hypoplasia, retinal ganglion loss, cortical dysplasia

53
Q

Neurofibromatosis type I

A

von Recklinghausen’s; Autosomal dominant, 50% of cases sporadic, Ch 17, neurofibromin- GTPase activating protein. Cafe au lait macules, neurofibromas, plexiform neurofibromas, axillary/inguinal freckling, optic nerve gliomas, Lisch nodules. Assoc w/ MPNST, pheochromocytoma, glioma, cortical dysplasi, macrocephaly

54
Q

Neurofibromatosis type II

A

Autosomal dominant, Ch 22, merlin-cytoskeletal prot. and tumor supressor. Bilateral cranial nerve schwannomas, neurofibromas, meningiomas, gliomas juvenile subcapsular lenticular opacity. Assoc w/ meningioangiomatosis

55
Q

Tuberous Sclerosis

A

Autosomal dominant, 50% sporadic, Ch 9, TSC1/2 gene. Triad: adneoma sebaceum (angiofibroma), seizures, mental retardation. SEGA (near foramen of Monro), astrocytic hamartomas (ventricles), tubers causing widened gyri, cortical dysplasia, siezures (90%). Shagreen patches, ash leaf patches, periunginal fibromas, angiomyolipoma, polycystic kidneys, LAM, retinal hamartoma, cardiac rhabdomyomas

56
Q

Sturge-Weber

A

Encephalotrigeminal angiomatosis, pathogensis unknown, Facial port wine stain/nevus flammeus in trigeminal region, leptomeningeal venous angioma, cortical calcification (tram line) and atrophy, hemihypertrophy of skull, hemiparesis of body contralateral to facial nevus, siezures

57
Q

von Hippel Lindau

A

20% of cases familail, Men > women, Autosomal domiant Ch 3. Cerebellar and retinal hemangioblastoma, secondary polycythemia vera, RCC and renal cysts, Hepatic adenomas/cysts, Endolymphatic sac tumor, pheo, paraganglioma, aggresive papillary tumor of the middle ear

58
Q

Ataxia-telangiectasia

A

Autosomal recessive, Ch 11, abnormality of DNA procressing and repair. Progressive cerebellar ataxia- cerebellar cortical atrophy 2/2 defective maturation of purkinje and granular neurons, post. column degen, nuclear pleomorphism and cytoplasmic enlargment of schwann cells, ganglion sattelite cells and pituitary. Conjunctival and facial telangectasias, IgA abnormalities, hypersentivity to radiation, lymphoma, absent/rudimentary thymus, hypoplastic gonads

59
Q

Neurocutaneous melanosis

A

Autosomal dominant, Melanocytic proliferation of leptomeninges, skin (usually midline, back and head), and eye. Rarely assoc w/ NF

60
Q

Cowden’s synd

A

Autosomal dominant, Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos). Tricholemmomas, hamartomas, thyroid carcinoma, breast ca

61
Q

Retinoblastoma synd

A

Pineoblastoma, retinoblastoma (Flexner-Wintersteiner rosettes), malignant glioma, osteosarcomas. Ch 13, RB1 gene

62
Q

Li-Fraumeni syndrome

A

Autosomal dominant, p53 gene, ch 17. Malignant gliomas (often multicentric), medulloblastoma, CNS neuroblastoma, meningioma and schwannoma. Breast ca, sarcoma, osteosarcoma, leukemia, lymphoma, and adrenocrotical carcinoma

63
Q

Turcot Syndrome

A

APC gene, Ch 5. Medulloblastoma, malignant glioma (usually GBM), polyposis coli. Assoc w/ MMR gene mutations in GBM cases.

64
Q

Gorlin syndrome

A

PTCH gene, Ch 9, aka Basal cell nevus synd. Medulloblastoma, basal cell ca, keratocysts of the jaw, macrocephaly, agensis of corpus callosum, ovarian fibromas, melanoma, leukemia/lymphoma

65
Q

When does myelination occur

A

6 monts postpartum

66
Q

Unilateral cortical dysplasia with hemimegancephaly

A

One hemisphere larger (may not be the pathologic one), Neuronal cytomegaly and dysplastic neurons + for aB-crystallin, NF, tau, and ubiquitin w/ NFTs, and bizarre astrocytes

67
Q

Focal Cortical dysplasia type I (a, b, and c)

A

No balloon cells or dysmophic neurons
1a- abnromal radial cortical lamination
1b- abnormal tangential cortical lamination
1c- both a and b

68
Q

Focal Cortical Dysplasia type II (a and b)

A

abnormal cortical architeture/lamination
IIa-dysmorphic neurons
IIb- dysmorphic neurons and balloon cells

69
Q

Focal cortical dysplasai type III

A 
associated with other pathologies
IIIa-hipocampal sclerosis
IIIb-tumor
IIIc-vascular malformation
IIId- traumatic, ischemic or infectious pathology
70
Q

Cerebellar external granular layer disappers by?

A

1 year

71
Q

Joubert syndrome

A

Agensis of vermis, rads- molar tooth brainstem, and umbrella 4th ventricle, dysplastic c-shaped olivers. Familial, epidsodic hyperpnea, abnormal eye movements, ataxia, mental retardation

72
Q

Syringomyelia is associated with?

A

Chiari type 1 (90%), kyphoscloiosis, and charcot’s joints. produces wasting and weakness of the hand and forearms muscles, usually cervical extending into thoracic chord, presents in 2nd to 3rd decade

73
Q

Hydrocephalus is commonly assoc. w/

A

Dandy walker (2/2 4th ventricular cyst), mucopolysaccharoidosis, congenital cerebral lactic acidosis from pyruvate dehydrogenase deficiency, intraventricular hemorrhage, intrauterine/neonatal infection

74
Q

hippocampus is formed when?

A

16 weeks gestation

CNS (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions