Congenital Malformations - Fremont-Smith

Question 1

pregnant women X-ray

Answer 1

damage is real risk

Question 2

critical period for malformation

Answer 2

3-8 weeks gestation

Question 3

malformation

Answer 3

flawed development

-no gliosis

Question 4

disruption

Answer 4

destruction of normal brain

-yes gliosis

Question 5

radiation

Answer 5

risk with malformation and disruption

Question 6

timing of exposure

Answer 6

important for malformations and disruptions

ex/ CMV

• before midgestation- microcephaly and polymicroglyia
• third trimester - encephalitis

Question 7

neural tube defects

Answer 7

neural tube closure defects
axial mesodermal defects
tail bud defects

Question 8

cause of neural tube defect

Answer 8

folate deficiency
valproic acid
hyper/hypo glucose

Question 9

no brain in anencephaly

Answer 9

amniotic fluid toxic

Question 10

NT closure defect

Answer 10

anencephaly
chraniorachischisis
myelomeningocele

Question 11

axial mesodermal defects

Answer 11

closed - split cord

herniation - encephalocele or meningocele

Question 12

tail bud defect

Answer 12

spina bifida occulta
low split cord
hydromyelia

Question 13

ciliopathy

Answer 13

NT closure defects

Question 14

most common neural tube defect

Answer 14

anencephaly

detect on US

often with spina bifida

Question 15

elevated alpha-fetoprotein and AChE

Answer 15

anencephaly

Question 16

association of anencephaly

Answer 16

adrenal hypoplasia - no hypothalamus

Question 17

craniorachischisis

Answer 17

all open neural tube

Question 18

myelomeningocele

Answer 18

herniation of CNS through vertebral defect

often lumbosacral

risk of infection

surgical correction

Question 19

meningocele

Answer 19

vertebral defect herniation - no CNS tissue

Question 20

spina bifida occulta

Answer 20

no skin defect - may be hair tuft

Question 21

ciliopathies

Answer 21

meckel gruber syndrome

Question 22

encephalocele

Answer 22

defect or mesoderm development (skull)

herniation through axial defect of skull

meninges herniate with brain tissue

Question 23

meckel gruber syndrome

Answer 23

with encephalocele

enlarged kidneys
polydactylyl

Question 24

kinesin

Answer 24

anterograde transport

Question 25

dynein

Answer 25

retrograde transport

Question 26

mutated polycystin 1 or 2 Wnt and Hedgehog signaling dysfunction

Answer 26

loss of cell polarity cystic tubular expansion polycystic kidney disease

Question 27

hydromyelia

Answer 27

over distension of central canal pain in neck / numb shoulders HAs leg or hand weakness problem walking poor bowel and bladder control

Question 28

small posterior fossa

Answer 28

chiaria malformations

Question 29

larger posterior fossa

Answer 29

dandy-walker malformation

Question 30

chiaria type 1

Answer 30

herniation cerebellar tonsil often with syringomyelia - central cord larger and liquefy -obstructed flow of CSF no neural tube defect cape like loss of pain and temp sensation

Question 31

chiari malformation imaging

Answer 31

best on MRI

Question 32

chiari type 2

Answer 32

with myelomeningocele shallow posterior fossa and large foramen magnum -herniate vermis and tonsils with hydrocephalus

Question 33

dandy walker malformation

Answer 33

larger posterior fossa absence of vermis often with hydrocephalus atresia of foramen of luschka

Question 34

obstructive hydrocephalus

Answer 34

obstruction of foramen of monro, third ventricle, aqueduct, foramen of luschka, SA space fibrosis, defective filtration of CSF, hydrocephalus ex vacuo

Question 35

hydrocephalus ex vacuo

Answer 35

dilation of cerebral ventricles due to loss of brain tissue with wasting brain diseases

Question 36

damage with hydrocephalus

Answer 36

periventricular white matter - lose myelin and axons

Question 37

holoprosencephaly

Answer 37

4-6 week gestation absence of cleavage of prosencephalon maternal DM, toxo, syphilis, rubella, FAS associated with patau - trisomy 13

Question 38

mutation of sonic hedgehog

Answer 38

midline facial and CNS structure defects like holoprosencephaly

Question 39

cyclopia, cleft lip

Answer 39

with holoprosencephaly

Question 40

agenesis of corpus callosum

Answer 40

with other cerebral abnormalities asymptomatic or seizures/psychomotor retardation

Question 41

abnormal neuronal-glial proliferation or apoptosis

Answer 41

microcephaly | megalencephaly

Question 42

abnormal neuronal migration

Answer 42

periventricular nodular heterotopia lissenephaly cobblestone cortex

Question 43

abnormal cortical organization

Answer 43

polymicrogyria | focal cortical dysplasia

Question 44

as germ cells develop

Answer 44

climb glial scaffolds last cells are oligodendrocytes -no myelin early - susceptible to damage

Question 45

subcortical band heterotopia

Answer 45

neurons migrate half way

Question 46

periventricular nodular heterotopia

Answer 46

neurons do not migrate at all

Question 47

cobblestone cortex

Answer 47

neurons overshoot cortex and end up in SA space

Question 48

late stage migration and organization interrupted

Answer 48

polymicrogyria

Question 49

alcohol

Answer 49

affects process of neuron migration

Question 50

fewer or more neurons produced than normal

Answer 50

microcephaly | megalencephaly

Question 51

lissencephaly

Answer 51

smooth brain defective neuron migration LIS1 mutation no gyri microtubule motor protein and microtubular dysfunction

Question 52

polymicrogyria

Answer 52

increased number of gyri disrupted neuron migration

Question 53

focal cortical dysplasia

Answer 53

most frequent removed brain tissue in epilepsy** intractable seizures and cognitive impairment

Question 54

FCD pathology

Answer 54

abnormal cortical with loss of normal layering of germ cells often have hippocampal sclerosis - older patients

Question 55

trisomy 18

Answer 55

quad screen all down

Question 56

trisomy 21

Answer 56

beta-hcg and inhibin A elevated AFP and estriol decreased