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63 Cards in this Set

  • Front
  • Back
What happens in first four weeks of development?
Neural tube forms and closes
Dysraphic states occur when in development?
Weeks 1-4
What happens in second four weeks of development?
Secondary Cleavage

(neural folds, prosencephalon evaginates to from two hemispheres)
Agenesis of major structure occur when in development?
Weeks 4-7
What happens in weeks 8 to 26 of development?
Cell migration and differentiation.
Dysplasia occurs when in development?
Weeks 8 to 26
What happens in last half of fetal life?
Formation of:

What developmental features after birth?

Glial formation
List three major types of neural tube defects.
1. Anencephaly
2. Caudal Neural Tube Defects
3. Encephalocele
Anencephaly occurs when during development?
Day 28
What is the pathology of anencephaly? x2
1. Acrania (absent skull)
2. Area Cerebrovasculosa
List four types of Caudal Neural Tube Defects.
1. Cele
2. Rachischism
3. Spinal Dyraphism
4. Spina Bifida Occulta
What are two CELE types?

What is the most common type of neural tube defect?
Caudal neural tube defect.
Define encephalocele.
Diverticulum containing:


with or without

In which fossa(s) are encephaloceles most common?
Posterior fossa

Occipital fossa
Define spinal dysraphism
Defect of posterior vertebra
Define Rachischisis
Posterior vertebra absent

Cord and nerves are flat and exposed (or non-existent)
Define Cele
Define Spina Bifida Occulta
Defect only in vertebral arch without a spinal cord defect.
Meningocele contains what?
Myelomeningocele contains what?


Spinal nerves
What is the most common form of myelomeningocele?
Myelomeningocele deficits referable to what? x2
LE motor and sensory

Bowel and bladder symptoms
List problems associated with overlying skin of myelomeningocele. x3

Leakage of CSF

Describe the association of Alpha Fetoprotein in dysraphism.
Elevated in maternal serum in cases where the defect is open to amniotic fluid.
Describe the association of folate in dysraphism.
Deficiency in first few weeks implicate pathogenesis
Forebrain defects are caused by disturbances of what? x2
Secondary cleavage

Neuronal migrations
Forebrain defects are associated with what factors? x4



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

Agenesis of corpus callosum
What is holoprosencephaly?
Incomplete separation of hemispheres.
What would you expect in severe holoprosencephaly?
Facial defects (cyclopia)
What is the least serious form of holoprosencephaly called?

What is the symptoms?

No olfactory stria
No straight sulcus
Holoprosencephaly is associated with what chromosomal disease?
Trisomy 13 and 18
What are two features of Agenesis of Corpus Callosum?
1. Mental Retardation

2. "Bat Wing" - lateral ventricle deformity
Dysplasia of the forebrain causes what defects? x4
1. Neuronal Heterotopias
2. Agyria
3. Pachygyria
4. Polymicrogyria
List all forebrain defects.
1. Holoprosencephaly
2. Agenesis of Corpus Callosum

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

7. Microencephaly
8. Megalencephaly
List two Posterior Fossa abnormalities.
Arnold-Chiari malformation

What are the symptoms of Arnold Chiari malformation? x9
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).
List the characteristics of Dandy-Walker malformation. x3
1. Absent cerebellar vermis
2. Large midline cyst
3. Enlarged posterior fossa
List the types of spinal cord defects. x4
1. Dimyelia
2. Diastematomyelia
3. Hydromyelia
4. Syringomyelia
What type of cord defects are most common in the cervical area?

Define dimyelia.
Two complete spinal cords
Define diastematomyelia.
Division of 1 spinal cord into 2 side by side structures
Define hydromyelia
Expansion of central canal
Define syringomyelia
Cleft in cord
Pathology of congenital hydrocephalus. x2
Aqueductal malformation

Periaqueductal gliosis
Pathology of Down syndrome. x2
Shortened A-P diameter

Simple gyral pattern
What is phakomatoses? What is the genetic inheritability?
Neurocutaneous disorders

List three Phakomatoses.
1. NF

2. Tuberous Sclerosis

3. Von Hippel-Lindau
NF Type I
- symptoms?
- chromosome?
- codes for?
Peripheral nerve neurofibromas
and cafe au lait

Chr 17q

NF Type II
- affected nerves?
- chromosome?
- codes for?
Bilateral acoustic and spinal nerve schwannomas
and cafe au lait

Chr 22q

Tuberous Sclerosis (Epiloia) symptoms. x3
Epileptic seizures
Low intelligence (Mental Retard)
Von Hippel-Lindau symptoms. x3

Cysts (pancreas, epididymus, liver, kidney)

Renal cell carcinoma (10% increase in probability)
Define hydranencephaly.
Massive destruction of brain after formation.
List the symptoms of hydranencephaly. x2
1. Massive cystic change
2. Retains some hallmarks
Hydranencephaly with a lesser degree of destruction is called what?
Fetal alcohol syndrome is the leading cause of what? x2
Mental retardation

Birth defects
Most consistent CNS finding in fetal alcohol syndrome.
Define cerebral palsy
Non progressive

neurologic motor deficit

attributed to insults during:
- prenatal period
- perinatal period
Premature infants exhibit what type of perinatal injury symptom?
Intraparenchymal hemorrhage
Older premature infants exhibit what type of perinatal injury symptoms?
Periventricular leukomalacia
Perinatal ischemic lesions result in what?
Thinned gliotic gyri (ulegria)