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Neuro II > Perinatal Disorders, malformation, and defects > Flashcards

Perinatal Disorders, malformation, and defects Flashcards

1
Q

HIE in infancts

A

water shed lesions most characteristic
can see calcifications
triangular appearance of brain d/t watershed necrosis
multicystic encephalopathy

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2
Q

moderate ischemia in infants

A

causes mainly cortical damage in border zones between major aa territories
a parasagittal band of Cx taht arches from frontal to occipital pole

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3
Q

severe ischemia in infants

A

damages deep nuclei and brainstem

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4
Q

CMV infections

A

can also induce ischemic changes in ventricles

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5
Q

periventricular leukomalacia (PVL)

A

in preterm infants
cardiorespiratory abnormalities and sepsis increase risk
most vessels grow from superficial-> deep so the germinal cell layer at the edge of the ventricles is a watershed ares in the preterm infant
calcifications can occur in the necrotic tissue
basis of cerebral palsy (CP)

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6
Q

germinal matrix hemorrhage

A

frequent lesion in premature babies who have hyaline membrane disease and RDS
more common in babies weighing 500-750gm
major cause of morbidity and mortality, CP, and mental retardation

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7
Q

porencephaly

A

fluid filled cavity confined to parenchyma

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8
Q

schizencephaly

A

lesion which is in the parenchyma but communicated with subarachnoid space

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9
Q

hydranencephaly

A

cerebrum replaces by cyst

d/t loss of blood supply from major vessel -> ischemia -> autodigestion -> cyst

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10
Q

bilirubin encephalopathy /kernicterus

A

acquired metabolic encephalopathy of neonate

unbound, unconjugated bilirubin crosses BBB b/c it is lipid soluble and penetrates neuronal and glial membranes

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11
Q

critical period for malformations and disruptions?

A

wk3-8

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12
Q

malformation

A

flawed development
usually midline, b/l, symmetric
no gliosis
carries recurrence risk that can be calculated

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13
Q

disruption

A

destruction of normal brain
focal and asymmetric
does have gliosis (inflammation and calcification)
do not recur unless exposure recurs or continues

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14
Q

radiation

A

presents as a spectrum btwn malformation and disruption

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15
Q

early CMV infection

A

microencephaly and polymicrogyria

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16
Q

3rd trimester CMV infection

A

encephalitis

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17
Q

causes of NT defects

A 
deficiencies: folate, inositol, B12, zinc
folate antagonisits
glycemic dysregulation
histone deactylase inhibitors
thermal dysregulation
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18
Q

folate antagonists

A

carbamazepine
fumonisin
trimethoprim

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19
Q

histone deacetylase inhibitors

A

valproic acid

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20
Q

NT closure defects

A 
anencephaly
craniorachischisis 
myelomeningocele
spina bifida 
menigocele
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21
Q

anencephaly

A

initially brain protrudes thru defect of cranial vault -> mechanically and chemically destroyed
elevated alpha-fetoprotein and acetylcholinesterase in amniotic fluid and materal blood
usually detected on US
often accompanied by spina bifida

22
Q

craniorachischisis

A

hindbrain-cervial jnx of NT does not zip closed

23
Q

meylopmenigocele

A

herniation of CNS tissue thru vertebral defect
can occur at any level, but almost always lumbosacral
risk of infection
some loss of sensation/parlysis
surgical correction

24
Q

axial mesodermal defects

A

closed defect- split cord (high)

herniation defect- encephalocele, menigocele

25
Q

encephalocele

A

defect of cranial mesodermal development
herniation thru an axial mesoderm defect of skull
meningies herniate w/normal brain tissue
tissue in sac gets destroyed
75% occipital
linked to ciliopathies

26
Q

meckel gruber syndrome

A 
rare ciliopathic, genetic disorder, characterized by 
renal cystic dysplasia
CNS malformations (encephalocele)
hepatic developmental defects pulmonary hypoplasia d/t oligohydramnios
27
Q

tail bud defects

A

spina bifida occulta
split cord (low)
hydromyelia

28
Q

hydromyelia

A 
over distension of central canal
pain in neck, shoulders usually numb
HAs
leg or hand weakness
numbness or loss of sensation in hands and feet
problems with walking
loss of  bowel and bladder control
spasticity and paralysis of legs
29
Q

posterior fossa anomalies

A

brainstem and cerebellum
chirari malformations I and II
dandy-walker malformation

30
Q

chiari type I

A 
herniation of a peg of cerebellar tonsil 
can be asymptomatic 
neck pain
lower CN palsies
sleep apnea
sudden death
cerebellar ataxia 
hydrocephalus
syringomyelia 
NO neural tube defect
31
Q

chiari type II

A 
aka arnold-chiari malformation
almost invariably w/lumbosacral myelomeningocele
craniolucunia
low torcula, short fenesstrated falx
hydrocephalus
32
Q

craniolacunia

A

shallow posterior fossa and enlarged foramen magnum
low tentorial insertion
herniation of vermis and tonsils

33
Q

dandy walker malformation

A

large posterior fossa
absence of vermis
usually associated with hydrocephalus

34
Q

obstruction of formaina of monro

A

colloid cyst

tuberous sclerosis

35
Q

obstruction of 3rd ventricle

A

craniopharyngoma
pilocytic astrocytoma
germ cell tumors

36
Q

obstruction of aqueduct

A

aqueductal stenosis/atresia

posterior fossa tumors

37
Q

obstruction of formaina of luschka or 4th venticle

A 
chiari malformation
Dandy walker
meningitis
subarachnoid hemorrhage
posterior fossa tumros
38
Q

fibrosis of subarachnoid space

A

meningitis
subarachnoid hemorrhage
menigeal dissemination of tumors

39
Q

defective filtration of CSF

A

postulated for low-pressure hydrocephalus

40
Q

hydrocephalus ex vacuo

A

dilation of cerebral ventricels d/t loss of brain tissue

41
Q

idiopathic external hydrochephalus

A

condition characterized by increased CSF volume and expansion of subarachnoid space w/o ventricular brain atrophy, intracranial HTN,
usually resolves w/o Tx

42
Q

holoprocencephaly

A

btwn 4th-6th week of gestation the forebrain is divided into 2 hemispheres
absence of this cleavage resutls in spectrum of malformations
common in Patau syndrome (trisomy 13)
maybe Shh mutations

43
Q

risks for holoprocencephaly

A 
maternal DM
toxoplasmosis
syphillis
rubella
FAS
genetic
44
Q

agenesis of corpus callosum

A 
can be associated w/
arnold chiari malformation
dandy walker
anermann syndrome
schizencephaly
sporadic or rarely famililar 
asymptomatic -> retardation
45
Q

abnormal neuronal-glial proliferation and/or apoptosis

A

microcephaly

macrocephaly

46
Q

abnormal neuronal migration

A

periventricular nodular heterotopia
lissencephaly
cobblestone Cx
congeital muscualr dystrophy

47
Q

abnormal cortical organization

A

polymircogyria

focal cortical dysplasia

48
Q

lissencephaly

A 
smooth brain
defective neuronal radial and tangential migration
absence of gyri
LIS1 mutation
microtubule dysfunction
49
Q

polymicrogyria

A 
diffuse or focal
b/l or u/l
symmetric or asymmetric 
seizures, retardation, spasticity
rarely inherited
50
Q

focal cortical dysplasia (FCD)

A
  • sporadic developmental malformation of cerebral Cx -> intractable seizures and cognitive impairment
  • MOST FREQUENT pathology of brain tissue removed in epilepsy surgery
  • significant portion have hippocampal sclerosis which is most frequent lesion in older pts
51
Q

FAS

A

affects corpus callosum, cerebral Cx, hippocampus, cerebellum

Neuro II (22 decks)

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