Cns7 - Congenital Disorders Of Induction

Front 1

What will failure or delay in closure of the neural tube result in?

Back 1

A wide opening of the cranium and spinal arch

Front 2

What is it called when both the cranium and spinal arch are patent along the entire axial surface of the body?

Back 2

Craniorachischisis

Front 3

When can craniorachischisis develop?

Back 3

Weeks 1-2

Front 4

What will failure of closure of only the cranial portion of the neural tube result in?

Back 4

Anencephaly

Front 5

What will failure of closure of only the caudal portion of the neural tube result in?

Back 5

Rachischisis

Front 6

How severe are Anencephaly and Rachischisis?

Back 6

Both are incompatible with life.

Front 7

What neural elements will a baby with Anencephaly have/lack?

Back 7

Has: rudimentary brainstem, cerebellum, normal SC, hypoplastic pituitary/adrenals
Lacks: cerebrum

Front 8

How is anencephaly transmitted genetically?

Back 8

As an autosomal recessive trait

Front 9

What teratogen can cause anencephaly without genetics?

Back 9

Folic acid deficiency

Front 10

How can Anencephaly be detected?

Back 10

Via measurement of AFP and AChE in amniotic fluid

Front 11

What are 5 other posterior midline defects which affect the spinal cord more focally and less severely?

Back 11

-Spina bifida
-Cranium Bifidum
-Chiari malformation
-Dandy-walker malformation
-Spinal cord anomalies

Front 12

What are 2 varieties of Spina Bifida?

Back 12

-Spina Bifida occulta
-Spina Bifida cystica

Front 13

What is Spina Bifida occulta?

Back 13

Failure of the spinal arch to close, but without herniation of neural tissue or meninges through the defect.

Front 14

How does Spina bifida behave clinically?

Back 14

Asymptomatic

Front 15

What is Spina bifida cystica?

Back 15

Herniation of a cyst through the defect of the spinal arch.

Front 16

What are 2 flavors of Spina bifida cystica?

Back 16

-Meningocele
-Meningomyelocele

Front 17

What is a meningocele?

Back 17

When the herniated cyst contains only meninges

Front 18

What is a meningomyelocele?

Back 18

A herniated cyst that contains both neural tissue and meninges

Front 19

Where do 80% of meningomyeloceles occur?

Back 19

In the lumbar and sacral regions

Front 20

What are 90% of lumbar meningomyeloceles associated with?

Back 20

-Hydrocephalus
-Arnold chiari
or Spinal Cord malformation

Front 21

What can develop if CSF leaks through a meningomyelocele and it is not corrected w/ closure?

Back 21

Meningoencephalitis

Front 22

What 2 other clinical manifestations are often seen with meningomyelocele?

Back 22

-Urinary incontinence
-Urinary Tract Infections

Front 23

What will cause Ambulation to be affected by meningomyelocele? How will this affect the patient?

Back 23

If the lesion is at L3 or higher
-Patient may develop scoliosis and need a wheelchair

Front 24

What level of lesion will result in a patient w/ meningomyelocele needing braces/crutches?

Back 24

L4-L5

Front 25

What level of lesion will result in a patient w/ meningomyelocele walking normally?

Back 25

S1 or below

Front 26

What are the 2 flavors of Cranium bifidum?

Back 26

-Meningocele
-Meningoencephalocele

Front 27

What is meningocele?

Back 27

When a cyst containing only meningeal tissue herniates through an opening in the cranium

Front 28

What is a meningoencephalocele?

Back 28

A herniated cyst that contains both meninges and brain tissue.

Front 29

What 4 structural malformations make up Chiari malformation?

Back 29

-Hindbrain
-Skullbase
-Cervical spine
-Hydrocephalus

Front 30

What are 3 symptoms infants with Chiari malformation may present with?

Back 30

-Feeding reflux/aspiration
-Laryngeal stridor
-Apnea

Front 31

What 2 process contribute to hydrocephalus developing in Chiari malformation?

Back 31

-Obstruction of the aqueduct or Foramina of Magendie/Luschka
-Fibrosis of the meninges at the base of the brain

Front 32

What defect is seen in Chiari malformation Type I?

Back 32

Elongation of the medulla and herniation of the cerebellum into the foramen magnum

Front 33

What defect is seen in Chiari malformation Type II?

Back 33

Same as in Type I, PLUS:
-Brainstem malformation
-Spina bifida
-Lumbosacral meningomyelocele

Front 34

Which type of Chiari malformation is most common?

Back 34

Type II

Front 35

What 2 structural defects make up Dandy-Walker malformation?

Back 35

-Enlarged fourth ventricle forms a cyst lined by ependyma
-Absence of cerebellar vermis

Front 36

What are 2 other defects that are commonly seen in Dandy Walker?

Back 36

-Dysgenesis of the brainstem nuclei
-Enlarged posterior fossa

Front 37

What are 2 spinal cord defects caused by posterior midline defects?

Back 37

-Syringomyelia
-Hydromyelia

Front 38

What is Syringomyelia?

Back 38

A congenital or irregular tubular cavitation of the spinal cord with gliosis

Front 39

What is Hydromyelia?

Back 39

Dilation of the central canal, but without surrounding gliosis

Front 40

When during embryogenesis will teratogenic insults result in all of the posterior midline defects?

Back 40

Weeks 3-4

Front 41

When will teratogenic insults result in anterior midline defects?

Back 41

Weeks 5-6

Front 42

What are anterior midline defects also called?

Back 42

Faciotelencephalic malformations

Front 43

What germ layer defect will result in faciotelencephalic malformation?

Back 43

Prechordal mesoderm

Front 44

What are 2 anterior midline defects?

Back 44

-Arhinencephaly
-Holoprosencephaly

Front 45

What is Arhinencephaly?

Back 45

Agenesis of the olfactory tracts

Front 46

With what other facial and genetic defects is Arhinencephaly commonly associated?

Back 46

-Cleft lip and palate
-Trisomy 13-15
-Triploidy
-Holoprosencephaly

Front 47

What is holoprosencephaly?

Back 47

Failure of the forebrain to cleave resulting in one ventricle