Path VII

Question 1

myelomeningocele

Answer 1

herniation of CNS tissue through vertebral defect

Question 2

common spot for myelomeningocele

Answer 2

lumbosacral

Question 3

Tx myelomeningocele

Answer 3

surgical correction

Question 4

meckel gruber syndrome

Answer 4

ciliopathy

Question 5

what type of defect is encephalocele

Answer 5

defect in cranial mesodermal development

Question 6

where do enecephalocele’s herniate

Answer 6

through axial mesodermal defect of the skull

Question 7

most common spot for herniation of encephalocele

Answer 7

occipital lobe

Question 8

cardinal feature of Meckel Gruber syndrome

Answer 8

encephalocele

Question 9

clinical signs meckel gruber syndrome

Answer 9

cysts in kidneys
polydactlyly
encephalocele

Question 10

difference in kinesin and dynein

Answer 10

kinesin is anterograde

dynein is retrograde

Question 11

what signaling system is affected with mutate polycystin 1 or 2

Answer 11

Wnt Hedgehog

Question 12

what is hydromyelia

Answer 12

over distension of central canal

Question 13

signs hydromyelia

Answer 13

pain in neck, shoulders usually numb
HA
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

Question 14

What anomalies occur in the posterior fossa

Answer 14

chiari malformation I and II

Question 15

what location of brain is posterior fossa

Answer 15

brainstem and cerebellum

Question 16

what anomalie occurs in the large posterior fossa

Answer 16

dandy walker malformation

Question 17

what part of brain herniates with chiari type I

Answer 17

peg of cerebellar tonsil

Question 18

signs chiari type I herniation

Answer 18

asymptomatic of neck pain
lower CN palsies
sleep apnea
sudden death
cerebellar ataxia, late onset hydrocephalus, long tract signs
signs syringomyelia

Question 19

syringomyelia assoc with with anomalie

Answer 19

chiari type I

Question 20

major pathologic factor in chiari type I

Answer 20

occipital dysplasia

Question 21

is there a NT defect in chiari type I

Answer 21

no

Question 22

what causes the syringomyelia in chiari type I

Answer 22

when the herniation occurs there is obstruction to CSF flow causing dilation of central canal of spinal cord

Question 23

cape like distribtuion of pain

Answer 23

chiari type I

Question 24

expected MRI findings for chiari type I

Answer 24

herniation of 1 or both cerebellar tonsils below foramen magnum
cervico medullary kinking may be present
absence supratentorial anomalies
4th ventricle in usual loaction
syringomyelia in majority

Question 25

chiari type II characteristics

Answer 25

lumbosacral myelomeningocele | shallow posterior fossa with enlarged foramen magnum and low tentorial insertion, herniation of vermis and tonsils

Question 26

common finding in chiari type II

Answer 26

lumbosacral myelomeningocele | hydrocephalus

Question 27

dandy walker malformation

Answer 27

large posterior fossa no vermis hydrocephalus

Question 28

how does 4th ventricle appear in dandy walker malformation

Answer 28

semi transparent membrain along margins because the vermis is missing

Question 29

communicating hydrocephalus

Answer 29

hypersecretion CSF no obstruction choroid plexus papilloma

Question 30

causes of non communicating or obstructive hydrocephalus

Answer 30

obstruction foramina monro or third ventricle or aqueduct of foramina luschka or defective filtration CSF or fibrosis of subarachnoid space hydrocephalus ex vacuo idiopathic external hydrocephalus

Question 31

where is foramina of luschka

Answer 31

out of 4th ventricle

Question 32

what can cause obstruction 3rd ventricle

Answer 32

craniopharyngioma, germ cell tumors

Question 33

hydrocephalus ex vacuo

Answer 33

dilatation of ventricles from loss of brain tissue | alzhemiemrs, huntingtons, MS

Question 34

idiopathic external hydrocephalus

Answer 34

usually resolves without Tx infants probably from immaturity of arachnoid villi

Question 35

what can cause obstruction foramina of monro

Answer 35

colloid cysts, tuberous sclerosis

Question 36

what can cause fibrosis subarachnoid space

Answer 36

meningitis, subarachnoid hemorrhage, meningeal dissemination of tumors

Question 37

What is transependymal edema

Answer 37

pressure in ventricles push fluid through ependymal lining into periventricular white matter

Question 38

what area is hit first with hydrocephalus

Answer 38

periventricular white matter, loses myelin and axons

Question 39

Holoprocencephlay

Answer 39

absence of cleavage of forebrain between 4-6 weeks gestation

Question 40

conditions assoc with holoprocencephaly

Answer 40

maternal DM, toxoplasmosis, syphilis, rubella, fetal alcohol syndrome, genetic

Question 41

common chromosomal anomaly with holoprocencephaly

Answer 41

trisomy 13 Patau

Question 42

what anomalies are assoc with agenesis of corpus callosum

Answer 42

arnold chiari (II) dandy walker syndrome andermann syndrome schizencephaly

Question 43

what is andermann syndrome

Answer 43

motor and sensory neuropathy | K Cl cotransporter

Question 44

signs agenesis corpus callosum

Answer 44

asymptomatic subtle perceptual deficitis seizures psychomotor retardation!

Question 45

bat wings appearance of corpus callosum

Answer 45

agenesis