Embryology and congenital malformations Flashcards

1
Q

What happens during gastrulation?

A

Single layered blastula reorganised to multi layered structure

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2
Q

What forms the germ layers>

A

Epiblast

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3
Q

What are the 3 germ layers, from top to bottom?

A

Ectoderm
Mesoderm
Endoderm

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4
Q

What germ layer doe the nervous system form from?

A

Ectoderm

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5
Q

When does the CNS appear?

A

Beginning of week 3

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6
Q

What initial structure that will form the nervous system?

A

Neural plate

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7
Q

What is the neural plate?

A

Thickening of ectoderm anterior to primitive node

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8
Q

How does the neural tube form?

A

Edges of the neural plate form and move upwards, forming the neural folds
The neural folds migrate towards each other and fuse in the midline, forming the neural tube

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9
Q

What is the initial structure of the neural tube?

A

Remains open at anterior and posterior ends

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10
Q

When do the ends of the neural tube close?

A

Cranial neuropore= 25 days

Caudal neuropose= 27 days

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11
Q

Where is neural tube closure initiated?

A

Several points along the AP axis and proceeds in cranial and caudal directions

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12
Q

What does failure of proper neural tube closure cause?

A

Neural tube defects- ancephalopathy, encephalocoele, spina bifida

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13
Q

What causes ancephalopathy?

A

Failure of anterior neuropore to close

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14
Q

What does ancephalopathy cause?

A

Skull fails to form and brain tissue degenerates

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15
Q

What is craniorachischisis?

A

Failure of neural tube closure along entire neuroaxis

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16
Q

What is encephalocoele?

A

Herniation if cerebral tissue through defect in the skull, most frequently in occipital region

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17
Q

What causes encephalocoele?

A

Failure in closure of rostral neural tube closure

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18
Q

What causes spina bifida?

A

Defective closure of caudal neural tube

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19
Q

What does spina bifida cause?

A

Non fusion of vertebral arches
Affects tissues overlying spinal cord
Neural tissue may or may not be affected

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20
Q

What are the types of spina bifida?

A
Spina bifida occulta
Spina bifida cystica
Spina bifida with meningocele
Spina bifida with meningomyelocele
Myloschisis
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21
Q

What causes spina bifida occulta?

A

Failure of embryonic halves of vertebral arch to grow normally and fuse

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22
Q

What dies spina bifida occulta cause?

A

Usually no clinical symptoms

Dimple with small tuft of hair on lower back

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23
Q

What does spina bifida cystica cause?

A

Protrusion of spinal cord and/or meninges through defect in vertebral arches

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24
Q

What does spina bifida with meningocele cause?

A

Protrusion of meninges and CSF

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25
Q

What does spina bifida with meningomyelocle cause?

A

Protrusion of meninges, CSF and nerve roots and/or spinal cord

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26
Q

What are the clinical signs of spina bifida with meningomyelocle?

A

Neurological deficits- loss of sensation and muscle paralysis
Area affected determined by level of lesion
Often associated with hydrocephalus

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27
Q

What causes myloschisis?

A

Failure of neural folds to fuse

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28
Q

What does myloschisis cause?

A

Spinal cord in affected area open

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29
Q

What is the prevention of spina bifida?

A

Folic acid supplements

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30
Q

How is spina bifida diagnosed prenatally?

A

Maternal blood screening
Amniocentesis
Ultrasound

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31
Q

What ar the risk factors for spina bifida?

A

Genetic predisposition
too little folate, too much vit A
Hyperthermia

32
Q

What commences development of the brain vesicles?

A

Closure of anterior neuropore

33
Q

What forms the ventricular system?

A

Lumen of neural tube

34
Q

What are the 3 sections that form the brain and what do they form?

A

Prosencephalon- forebrain
Mesencephalon- midbrain
Rhombencephalon- hindbrain

35
Q

What is the prosencephalon made up of?

A

Telencephalon

Diencephalon

36
Q

What does the diencephalon form?

A
Thalamus
Hypothalamus
Pituitary gland
Pineal
3rd ventricle
37
Q

What does the telencephalon form?

A

Cerebral hemispheres
Hippocampus
Basal ganglia
Lateral ventricle

38
Q

What does the mesencaphlon form?

A

Midbrain
Superior and inferior colliculi
Cerebral aqueduct

39
Q

What are the 2 parts of the rhombencephalon?

A

Metencephalon

Myelencephalon

40
Q

What does the metencephalon form?

A

Cerebrum
Pons
4th ventricle

41
Q

What does the telencephalon form?

A

Medulla

4th ventricle

42
Q

What are the fold of the neural tube?

A

Cephalic flexure
Cervical flexure
Pontine flexure

43
Q

When and where does the cephalic flexure form?

A

End of third week

Between midbrain and hindbrain

44
Q

Where and when does the cervical flexure form?

A

End of 4th week

Between hindbrain and spinal cord

45
Q

When and where does the pontine flexure form?

A

5th week

In hindbrain between metencephalon and telencephalon

46
Q

When does CSF begin to form?

A

5th week

47
Q

Where is the CSF predominantly produced?

A

Choroid plexus in 3rd, 4th and lateral ventricles

48
Q

Where does the CSF drain to?

A

Subarachnoid space via openings in the roof of the 4th ventricle

49
Q

What is hydrocephalus?

A

Accumulation of CSF, resulting in an enlarged brain and cranium

50
Q

What is the pathology of hydrocephalus?

A

Blocked aqueduct, preventing CSF from lateral and 3rd ventricles passing to 4th ventricle to drain

51
Q

What are the causes of hydrocephalus?

A

Genetic
Prenatal viral infection
Intraventricular haemorrhage
Spina bifida cystica

52
Q

What epithelium is in the neural tube?

A

Pseudostratified epithelium

53
Q

Where does the neural tube epithelium divide?

A

Ventricular surface

54
Q

What does the spinal nerve develop from?

A

Neural crest

55
Q

What does the neural crest extend?

A

2 processes- peripheral process and central process

56
Q

What does the peripheral process form?

A

Body of the spinal nerve

57
Q

What does the central process form?

A

Dorsal horn of the spinal cord

58
Q

What do motor neurone of the spinal cord form from?

A

Neural tube

59
Q

What are the gestational positional changes of the spinal cord?

A

By 3rd month, extends the entire length of the vertebral column

60
Q

What does the autonomic nervous system form from?

A

Neural crest cells

61
Q

What causes the development of sulci and gyro?

A

Rapid growth

62
Q

What problems can be caused by abnormal development of sulci?

A

Lissencephaly

Polymicrogyria

63
Q

What is lissencephaly?

A

Smooth brain due to sulci and gyro failing to develop

64
Q

What causes lissencephaly?

A

Defective neuronal migration

65
Q

What does lissencephaly cause?

A

Sever mental impairment
Failure to thrive
Seizures
Abnormal muscle tone

66
Q

What is polymicrogyria?

A

Excessive number of small gyri

67
Q

What is microcephaly?

A

Smaller than normal head

68
Q

What can cause microcephaly?

A

Genetic, drugs, infection

69
Q

What does microcephaly cause?

A
Intellectual impairment
Delayerd motor functions/speech
Hyperactivity
Seizures
Balance/coordination problems
70
Q

What is aegenesis corpus callosum?

A

Complete or partial absence of corpus callosum

71
Q

What does aegenesis corpus callosum cause?

A

Cognitive and social difficulties
Intellectual impairment
Seizures
Hypertonia

72
Q

What is schizencephaly?

A

Abnormal slits of clefts in cerebral hemisphere

73
Q

What causes schizencephaly?

A

Genetic
In utero stroke
Infection

74
Q

What does schizencephaly cause?

A

Paralysis
Seizures
Intellectual impairment
Developmental decay

75
Q

What is diastematomyelia?

A

Spinal cord split longitudinally in 2

Bony or carttilinagous processes fix cord in place

76
Q

What does diastematomyelia cause?

A
Scloliosis
Weakness of lower extremities
Hairy patch over lower back
Foot deformities
Loss of sensation
77
Q

What are the causes of intellectual impairment?

A
Genetic
Radiation
Infectious agents
Birth trauma
Postnatal insults
Maternal alcohol abuse