M2-C2-L63 --> Cns Malformations

Front 1

What happens in first four weeks of development?

Back 1

Neural tube forms and closes

Front 2

Dysraphic states occur when in development?

Back 2

Weeks 1-4

Front 3

What happens in second four weeks of development?

Back 3

Secondary Cleavage

(neural folds, prosencephalon evaginates to from two hemispheres)

Front 4

Agenesis of major structure occur when in development?

Back 4

Weeks 4-7

Front 5

What happens in weeks 8 to 26 of development?

Back 5

Cell migration and differentiation.

Front 6

Dysplasia occurs when in development?

Back 6

Weeks 8 to 26

Front 7

What happens in last half of fetal life?

Back 7

Formation of:

Myelination
Sulcus
Gyrus

Front 8

What developmental features after birth?

Back 8

Myelination

Glial formation

Front 9

List three major types of neural tube defects.

Back 9

1. Anencephaly
2. Caudal Neural Tube Defects
3. Encephalocele

Front 10

Anencephaly occurs when during development?

Back 10

Day 28

Front 11

What is the pathology of anencephaly? x2

Back 11

1. Acrania (absent skull)
2. Area Cerebrovasculosa

Front 12

List four types of Caudal Neural Tube Defects.

Back 12

1. Cele
2. Rachischism
3. Spinal Dyraphism
4. Spina Bifida Occulta

Front 13

What are two CELE types?

Back 13

Meningocele

Myelomeningocele

Front 14

What is the most common type of neural tube defect?

Back 14

Caudal neural tube defect.

Front 15

Define encephalocele.

Back 15

Diverticulum containing:

Meninges

and
with or without

brain

Front 16

In which fossa(s) are encephaloceles most common?

Back 16

Posterior fossa

Occipital fossa

Front 17

Define spinal dysraphism

Back 17

Defect of posterior vertebra

Front 18

Define Rachischisis

Back 18

Posterior vertebra absent

Cord and nerves are flat and exposed (or non-existent)

Front 19

Define Cele

Back 19

Outpouching

Front 20

Define Spina Bifida Occulta

Back 20

Defect only in vertebral arch without a spinal cord defect.

Front 21

Meningocele contains what?

Back 21

Meninges

Front 22

Myelomeningocele contains what?

Back 22

Meninges

Cord

Spinal nerves

Front 23

What is the most common form of myelomeningocele?

Back 23

Lumbar

Front 24

Myelomeningocele deficits referable to what? x2

Back 24

LE motor and sensory

Bowel and bladder symptoms

Front 25

List problems associated with overlying skin of myelomeningocele. x3

Back 25

Ulceration

Leakage of CSF

Infection

Front 26

Describe the association of Alpha Fetoprotein in dysraphism.

Back 26

Elevated in maternal serum in cases where the defect is open to amniotic fluid.

Front 27

Describe the association of folate in dysraphism.

Back 27

Deficiency in first few weeks implicate pathogenesis

Front 28

Forebrain defects are caused by disturbances of what? x2

Back 28

Secondary cleavage

Neuronal migrations

Front 29

Forebrain defects are associated with what factors? x4

Back 29

DM

EtOH

Rubella

Toxoplasmosis

Front 30

Agenesis of major structures (2nd month) leads to what two major CNS malformations?

Back 30

Holoprosencephaly

Agenesis of corpus callosum

Front 31

What is holoprosencephaly?

Back 31

Incomplete separation of hemispheres.

Front 32

What would you expect in severe holoprosencephaly?

Back 32

Facial defects (cyclopia)

Front 33

What is the least serious form of holoprosencephaly called?

What is the symptoms?

Back 33

Arrhinencephaly

No olfactory stria
No straight sulcus

Front 34

Holoprosencephaly is associated with what chromosomal disease?

Back 34

Trisomy 13 and 18

Front 35

What are two features of Agenesis of Corpus Callosum?

Back 35

1. Mental Retardation

2. "Bat Wing" - lateral ventricle deformity

Front 36

Dysplasia of the forebrain causes what defects? x4

Back 36

1. Neuronal Heterotopias
2. Agyria
3. Pachygyria
4. Polymicrogyria

Front 37

List all forebrain defects.

Back 37

1. Holoprosencephaly
2. Agenesis of Corpus Callosum

3. Neuronal Heterotopias
4. Agyria
5. Pachygyria
6. Polymicrogyria

7. Microencephaly
8. Megalencephaly

Front 38

List two Posterior Fossa abnormalities.

Back 38

Arnold-Chiari malformation

Dandy-Walker

Front 39

What are the symptoms of Arnold Chiari malformation? x9

Back 39

1. Small, shallow bowl shaped posterior fossa
2. Hydrocephalus
3. Extension of vermis through magnum foramen
4. Lumbar myelomeningocele
5. Low tentorium

6. Malformed midline tentorium
7. Enlarged magnum foramen

8. "Beak" shaped malformation of tectum
9. "S" shaped deformity of medulla (also caudally displaced).

Front 40

List the characteristics of Dandy-Walker malformation. x3

Back 40

1. Absent cerebellar vermis
2. Large midline cyst
3. Enlarged posterior fossa

Front 41

List the types of spinal cord defects. x4

Back 41

1. Dimyelia
2. Diastematomyelia
3. Hydromyelia
4. Syringomyelia

Front 42

What type of cord defects are most common in the cervical area?

Back 42

Syringomyelia

Hydromyelia

Front 43

Define dimyelia.

Back 43

Two complete spinal cords

Front 44

Define diastematomyelia.

Back 44

Division of 1 spinal cord into 2 side by side structures

Front 45

Define hydromyelia

Back 45

Expansion of central canal

Front 46

Define syringomyelia

Back 46

Cleft in cord

Front 47

Pathology of congenital hydrocephalus. x2

Back 47

Aqueductal malformation

Periaqueductal gliosis

Front 48

Pathology of Down syndrome. x2

Back 48

Shortened A-P diameter

Simple gyral pattern

Front 49

What is phakomatoses? What is the genetic inheritability?

Back 49

Neurocutaneous disorders

AD

Front 50

List three Phakomatoses.

Back 50

1. NF

2. Tuberous Sclerosis

3. Von Hippel-Lindau

Front 51

NF Type I
- symptoms?
- chromosome?
- codes for?

Back 51

Peripheral nerve neurofibromas
and cafe au lait

Chr 17q

Neurofibromin

Front 52

NF Type II
- affected nerves?
- chromosome?
- codes for?

Back 52

Bilateral acoustic and spinal nerve schwannomas
and cafe au lait

Chr 22q

Mirilin

Front 53

Tuberous Sclerosis (Epiloia) symptoms. x3

Back 53

Epileptic seizures
Low intelligence (Mental Retard)
Angiofibromas

Front 54

Von Hippel-Lindau symptoms. x3

Back 54

Hemangioblastomas

Cysts (pancreas, epididymus, liver, kidney)

Renal cell carcinoma (10% increase in probability)

Front 55

Define hydranencephaly.

Back 55

Massive destruction of brain after formation.

Front 56

List the symptoms of hydranencephaly. x2

Back 56

1. Massive cystic change
2. Retains some hallmarks

Front 57

Hydranencephaly with a lesser degree of destruction is called what?

Back 57

Porencephaly

Front 58

Fetal alcohol syndrome is the leading cause of what? x2

Back 58

Mental retardation

Birth defects

Front 59

Most consistent CNS finding in fetal alcohol syndrome.

Back 59

Microcephaly

Front 60

Define cerebral palsy

Back 60

Non progressive

neurologic motor deficit

attributed to insults during:
- prenatal period
- perinatal period

Front 61

Premature infants exhibit what type of perinatal injury symptom?

Back 61

Intraparenchymal hemorrhage

Front 62

Older premature infants exhibit what type of perinatal injury symptoms?

Back 62

Periventricular leukomalacia

Front 63

Perinatal ischemic lesions result in what?

Back 63

Thinned gliotic gyri (ulegria)