Basics & cerebral malformations Flashcards

1
Q

What are glial cells?

A

Supporting structure for neurons

Types of glial cells include:

1) microglia (CD4)
- part of the macrophage system

2) astrocytes - most common and found in the grey and white matter. Has many functions include:
- scar formation (gliosis)
- remove neurotransmitters in synaptic clefts
- remove neuronal debris along microglia
- take up KCL released by neurones when there is increased activity

3) oligodendrocytes (found in grey and white matter)
- produces CNS myelin
- it’s peripheral cousin is the schwann cell

4) ependyma
- line ventricular system and extends into central canal of spinal cord

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2
Q

What re the blood supply to the brain?

A

Internal carotids and basilar artery supply circle of willis

Anterior cerebral artery 
- frontal lobe and parietal lobe 
Middle cerebral artery 
- parietal lobe (speech area) and temporal lobe 
Posterior cerebral artery 
- occipital lobe 

Vertebrobasilar system supplies cerebellum and brainstem

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3
Q

What is the significance of reappearances of primitive reflexes?

A

Grasp and rooting reflexes are inhibited by maturation of frontal lobes but may appear later with acquired frontal lobe lesions.

Asymmetry or persistence of primitive reflexes may indicate focal brain or peripheral nerve lesions.

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4
Q

What is the difference between white and grey matter?

A

Grey matter

  • pinkish-grey color in the living body
  • continues the cell bodies, dendrites and axon terminals of neutrons
  • where all the synapses are
  • Distributed at the surface of the cerebrum (cerebral cortex) and of the cerebellum (cerebellar cortex), as well as in the depths of the cerebrum (thalamus; hypothalamus; subthalamus, basal ganglia – putamen, globus pallidus, nucleus accumbens; septal nuclei), cerebellar (deep cerebellar nuclei – dentate nucleus, globose nucleus, emboliform nucleus, fastigial nucleus), brainstem (substantia nigra, red nucleus, olivary nuclei, cranial nerve nuclei).

White matter
- made of axons connecting different parts of grey matter to each other

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5
Q

What makes up the basal ganglia and what is its function?

A

Basal ganglia contains the caudate nucleus, putamen and globes pallidus.
Situated anterior and lateral to internal capsule

Function

  • integration of motor movements
  • lesions cause meaningless, unintentional, unexpected contralateral movements

**kernicterus –> build up of bilirubin in basal ganglia –> athetoid CP

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6
Q

What makes up the thalamus and what is its function?

A

The thalamus includes the hypothalamus, sub thalamus and epithalamus

Functions as integration of information

  • info to / from cortex must pass through thalamus
  • lesions affect contralateral sensation
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7
Q

Where is the internal capsule and what is its function?

A

Connect tract between cerebrum and brain stem
Located between the basal ganglia and thalamus
Contains both motor and sensory fibres

Anterior limb
- transmits fibres from frontal lobe
Posterior limb
- transmit corticospinal and corticobulbar tracts
Optic radiation comes off at the back of internal capsule

Sensory fibres pass from cerebrum via the IC to thalamus

Lesions of IC cause contralateral sensory and motor changes

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8
Q

What is the main role of cerebellum?

A

Proprioception and vibration sense from limbs
Receives sensory information from spinocerebellar tract

Lesion manifest on ipsilateral side

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9
Q

Where are the cranial nerve nuclei?

A
Brain
- I and II 
Midbrain 
- III, IV 
Pons 
- V, VI, VII, VIII
Medulla
- Ix, X, XI, XII
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10
Q

What side would cranial nerve lesions affect?

A

Cranial nerve supple comes from both cerebral cortex
- unilateral abnormality of a cranial nerve implies a lesion at the level of the cranial nerve nuclei or the nerve itself

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11
Q

What cranial nerves are pure motor?

A

3, 4, 6, 11 and 12

- All divisible into 12 apart from 11

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12
Q

What cranial nerves are parasympathetic?

A

3, 7, 9 and 10

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13
Q

What is CN II?

A

Optic nerve

- traves to lateral geniculate body –> optic radiation –> posterior internal capsule –> occipital lobe

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14
Q

How does the light / accomodation reflex work?

A

Light –> CN II (afferent) –> Edinger Westphal nucleus –> CN III (parasympathetic efferent) –> constriction

No cortical involvement in reflex inteslf

CN II (afferent defect) –> reduced acuity, absent constriction of ipsilateral pupil and dilated consensual response

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15
Q

What are causes of absent light reflex but intact accomodation?

A

Argyl-Robinson pupil

  • small, irregular, unequal pupil
  • normal accomodation
  • mid brain lesion
  • syphilis, diabetes, alcohol

Adie’s pupil

  • caused by ciliary ganglion lesion (efferent parasympathetic pathway)
  • decreased or absent reaction to light
  • slow or incomplete reaction to accomodation
  • reduced tendon reflexes
  • usually young women

Parinaud’s syndrome

  • vertical gaze palsy, sunset sign +/- pupillary or CN III nuclear palsy
  • retractile nystagmus, impaired convergence
  • classically a/w tumour of pineal or 3rd ventricle
  • differential would be trauma / demyelination

Bilateral arterial visual pathway lesions

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16
Q

What are causes of each of these field defects?

  • Tunnel vision
  • Blind spot
  • central scotomata
  • unilateral field loss
  • bitemp hemianopia
  • homonymous hemianopia
  • upper quadrantanopia
  • lower quadrantanopia
A
Tunnel vision
- glaucoma, papilloedema, syphilus 
Blind spot 
- optic nerve head enlargement 
central scotomata
- optic nerve lesion between head and chiasm
- demyelination, toxic, vascular, nutritional
unilateral field loss 
- optic nerve lesion 
bitemp hemianopia 
- optic chiasm
homonymous hemianopia 
- occipital tract to occipital cortex lesion 
- may have macular sparing 
upper quadrantanopia 
- temporal lobe lesion
lower quadrantanopia
- parietal lobe lesion
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17
Q

What are the actions of CN III, IV and X?

A

3, 4, 6 make the eye do tricks!

CN III (oculomotor)

  • Innervates superior rectus, medial rectus, inferior rectus, and inferior oblique muscles
  • pupil constriction
  • levator palpabrae superioris

CNIV (Trochlear)

  • superior oblique
  • pulls eye down when looking medially

CNVI (abducens)

  • lateral rectus
  • moves eye laterally
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18
Q

What happens in CN III palsy?

A

Eye deviate down and out due to unopposed action from CN IV and CN VI

A/w

  • ptosis
  • pupillary dilation, unreactive to direct light / accomodation
Usually congenital in paediatric population 
Other causes 
- birth trauma 
- central (brainstem) tutor 
- Aneurysm 
- inflammatory / infectious 
- trauma 
- migraine
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19
Q

What happen in CN IV palsy?

A

Superior oblique palsy results in weakness of inferior gaze on adduction

  • Look up and out
  • May tilt head away from lesion to maintain binocular lesion

Most commonly acquired from trauma

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20
Q

What happens in CN VI palsy?

A

Paresis of lateral gaze

Congenital

  • rare
  • Aka Duanes’s

Acquired

  • a/w hydrocephalus, raised ICP
  • trauma
  • vasc. malformation
  • meningitis
  • a/w mastoiditis
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21
Q

What are causes of ptosis?

A

If normal pupils then it is a muscular problem

  • myasthenia gravis
  • botulism
  • fascioscapulohumeral dystrophy
  • thyrotoxic myopathy

If pupil is dilated
- CN III lesion

If pupil is constricted

  • Horner’s syndrome
  • Tabes dorsalis from neurosyphilis
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22
Q

What controls conjugate gaze?

A

The medial longitudinal fasciculus

  • direction of conjugate gaze is controlled by contralateral side of brain
  • i.e if conjugate gaze to right then controlled by left brain

Frontal lobe controls saccadic movement
Occipital lobe controls smooth pursuit
Brainstem co-ordinates gaze

Frontal lobe lesion causes contra-lateral horizontal paralysis
Brainstem lesion causes ipsilateral horizontal gaze paralysis

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23
Q

What does a medial longitudinal fasiculus lesion cause?

A

Internuclear ophthalmoplegia

  • failure of adduction in ipsilateral eye
  • nystagmus of abducting eye
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24
Q

How is nystagmus named?

A

After the direction of rapid phase (which is actually correction of abnormal drift)

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25
Q

What causes the below types of jerky nystagmus?

  • vertical (upbeat / downbeat)
  • horizontal
A

Vertical nystagmus

  • upbeat: 4th ventricule lesion
  • downbeat: foramen magnum lesion

Horizontal nystagmus

  • vestibular
  • cerebellum
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26
Q

What causes pendular nystagmus?

A

Retinal or congenital causes

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27
Q

What is horner syndrome?

A

Aka oculosympathetic paresis
- disruption to the sympathetic nerve trunk

Triad

  • Ptosis
  • Myosis (constricted pupils)
  • Anhydrosis

Need to make sure it isn’t part of lateral medullary syndrome which is

  • Horner syndrome
  • ipsilateral nystagmus
  • ipsilateral CN V, IX, X lesion s
  • ipsilateral cerebellar signs
  • contralateral pain and temperature over trunk and limbs
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28
Q

What is Duane syndrome?

A

Most common congenital oculomotor abN

  • may be AD or sporadic
  • usually unilateral
  • due to variation in innervation of affected eye’s lateral rectus muscle
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29
Q

What eye signs do you see with hydrocephalus?

A

Impairment of vertical gaze and pathological lid retraction (setting sun sign) due to dilation of supra-pineal recess (post. 3rd ventricle), pushing down on midbrain ‘tectum’

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30
Q

What does CN V do?

A

Trigeminal nerve

- facial sensation and motor supply to muscles of mastication

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31
Q

What does CN VII do?

A

Facial nerve

  • motor function of facial muscle
  • taste to ant 2/3 tongue
  • UMN provides bilateral innervation of upper and lower facial muscles therefore upper motor nerve facial palsy will result in ipsilateral paralysis of lower facial muscles contralateral only (i.e facial droop in stroke)
  • Lower motor neurone facial nerve –> ipsilateral paralysis of facial muscles
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32
Q

What does the CN VIII do?

A

Vestibulococholear nerve
- Palsy results in vertigo and absent cold caloric testing

If the lesion is in the brain stem and affects the cochlea nucleus only the only symptom is deafness

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33
Q

What is the weber / rinne test for?

A

Weber

  • tuning fork in the middle of the forehead
  • if sensorineural hearing loss, side affected can’t hear
  • if conduction hearing loss, affected side louder

Rinne

  • tune fork in front of ear vs mastoid
  • normal is louder in front than bone (positive rinne)
  • If sensorineural hearing loss, both will be down
  • If conduction hearing loss, negative rinne
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34
Q

What is CNIX?

A

Glossopharyngeal nerve

  • sensory function: taste, proprioception for swallowing, BP receptors in carotid sinus)
  • motor function: swallowing / gag reflex, tear production
  • Parasympathetic function: saliva production

Lesion causes
- Causes hoarseness, difficulty swallowing, taste sensation changes

35
Q

What is CNX?

A

Vagal nerve

  • sensory function: chemoreceptors of blood o2 concentration in carotid / aortic bodies, pain receptors in respiratory and digestive tracts, sensation of ext ear / larynx / pharynx, taste of post 1/3 tongue
  • parasympathetic function: heart rate / stroke volume, peristalsis, airway smooth muscles, muscles of larynx and pharynx

Lesions cause

  • hoarseness, difficulty swallowing, taste sensation changes
  • deviation of uvula towards normal side
  • autonomic changes
36
Q

What is CN XI?

A

Accessory nerve

- motor function of trapezium and SCM

37
Q

What is CN XII for?

A

Hypoglossal nerve
- motor function of tongue / swallowing

Lesion causes

  • tongue deviation towards weaker side
  • fasciculation’s / fibrillation of the tongue
  • atrophy of the tongue
38
Q

What are the different signs to help distinguish between upper vs lower motor neurone lesions?

A

Upper motor neurone

  • no atrophy or wasting
  • increased reflexes
  • positive babinski sign
  • spastic paralysis

Lower motor neurone

  • profound atrophy
  • loss of reflexes
  • flaccid paralysis
  • fasciculation / fibrillations
39
Q

What is the difference between decorticate vs decerebrate posturing?

A

Decorticate

  • lesion in the cerebrum
  • upper limb flexion
  • lower limb extension
  • difference because presence of extrapyramidal tracts still supplying some motor function to upper limbs

Decerebate

  • lesion in brainstem
  • upper and lower limb extensor posturing
40
Q

What is the Glascow Coma Scoring?

A
Eye 
1 - no eye opening 
2 - to pain 
3 - to speech 
4 - spontaneously 
Verbal 
1 - none 
2 - incomprehensible sounds 
3 - inappropriate words 
4 - patient confused 
5 - patient orientated 
Motor 
1 - none 
2 - extensor response (decerebrate) 
3 - flexion response (decorticate) 
4 - withdraws from pain 
5 - localises to pain 
6 - obeys commands
41
Q

What are sensory long tracts?

A

Lateral spinothalamic tract
- pain and temperature

Anterior spinothalamic tract
- touch and pressure

42
Q

What are the embryogenic origin of the brain?

A

CNS begins as a hollow tube - neural tube

Cephalic portion then divides into 3 primary brain vesicles

  • prosencephalon –> cerebrum and diencephalons
  • mesencephalon –> midbrain
  • rhombencephalon –> pons, medulla and cerebella
43
Q

What is the brainstem made up of?

A

Mesencephalon (midbrain)

  • sensory nuclei that process visual and auditory information and control reflexes that these stimuli trigger
  • contains centres that maintain consciousness

Pons

  • relays sensory info to the thalamus and cerebellum
  • nuclei involved with somatic and visceral motor control

Medulla

  • relays sensory info to thalamus and other parts of the brainstem
  • autonomic centres for the regulation of visceral function
44
Q

How many ventricles do we have?

A

2 lateral ventricles (separated by septum pellucidum and don’t communicate with each other) that join the 3rd ventricle via inter ventricular foramen
3rd –> 4th ventricle via cerebral aqueduct in the mid brain
4th ventricle lies between the pons and cerebellum

45
Q

What are the three main dural folds?

A

Falx cerebri
Tentorium cerebelli
Falx cerebelli

46
Q

Where is CSF produced and how much is around?

A

CSF is produced by choroid plexus, situated on floor of each lateral ventricle and the roof of the 3rd and 4th ventricle

In an adult, about 500mls of CSF is produced each day
CSF volume is approx 150ml
CSF is replaced about every 8 hours

From age 3y, CSF is drained into venous circulation through arachnoid villi which open into superior sagittal sinus

47
Q

Where are these main motor and sensory areas of the cortex found?

  • Primary motor cortex
  • Primary sensory cortex
  • Visual cortex
  • Auditory and olfactory cortex
A
Primary motor cortex 
- pre central gyrus 
Primary sensory cortex 
- post central gyrus 
Visual cortex 
- occipital lobe 
Auditory and olfactory cortex 
- temporal lobe
48
Q

What are the two language centres?

A

Broca’s area

  • lies on the edge of premotor cortex
  • same side as integrative area (usually on the left)
  • if damaged, will use meaningful words but in a non-fluent, telegraphic manner

Wernicke’s
- receives information from all sensory association areas
- if damages, may understand the meaning of individual words, but can’t interpret what is said
results in fluent aphasia

49
Q

What is the difference between somatic nervous system and autonomic nervous system?

A

Somatic nerve system’s lower motor neurones exert direct control over skeletal muscles and always have an excretory effect.

Autonomic nerve system contains a second visceral motor unit separating the CNS and target tissues

50
Q

When would you expected handedness to be established?

A

Handedness is usually established by 3 years of age. Developing handedness before 18 months of age indicates weakness or hypotonia on the less dominant side, which may be an early sign of CP.

Other early warning signs of CP include delayed motor milestones or persistence of ‘infantile’ or primitive reflexes.

51
Q

What is the cerebrum for?

A

Conscious thoughts, intellect, memory and complex movements

52
Q

What is the cerebellum for?

A

Co-ordination of muscle action in stereotyped / non-serotyped actions
Compares arriving sensations with sensations experienced previously

53
Q

What is the diencephalon made of?

A

Thalamus
- relay and processing centre for sensory info

Hypothalamus
- emotions, autonomic function and hormone production

Infundibulum
- connects the hypothalamus to the pituitary

54
Q

What is the brain stem made up of?

A

Midbrain (aka mesencephalon)

  • sensory nuclei that processes visual, auditory info and control the reflexes that these stimuli triggers
  • helps maintain consciousness

Pons

  • Relays sensory info to thalamus and cerebellum
  • subconscious somatic and visceral motor centres

Medulla

  • Relays sensory info to thalamus
  • autonomic centres for regulation of visceral function (cardiovascular / resp / digestive system)
55
Q

What were the embryologic origin of of the brain?

A

Began as a hollow tube - neural tube

The cephalic portion then divided into 3 primary brain vesicles:

  • Prosencephalon: cerebrum and diencephalon
  • Mesencephalon (midbrain)
  • Rhombencephalon: cerebellar, pons and medulla
56
Q

How many ventricles do we have and how do they communicate?

A
  • Lateral ventricles are separated by the septum pellucidum and don’t communicate with each other but join to the 3rd ventricle through the interventricular foramen (foramina of Monro)
  • 3rd ventricle joins the 4th ventricle via cerebral aqueduct in the mesencephalon (midbrain)
  • 4th ventricle lies between the pons / cerebellum
57
Q

What are the layers beneath the scalp?

A

Skull –> dura mater (endosteal layer) –> dural sinus –> dura mater (meningeal layer) –> subdural space –> Arachnoid –> subarachnoid space –> Pia mater –> cerebral cortex

58
Q

What are the main 3 dural folds?

A

Falx cerebri, tentotium cerebelli, falx cerebelli

59
Q

What is the function of CSF?

A

Cushions / supports the brain, transports nutrients, chemical messengers and water products

60
Q

Where is the CSF produced?

A

In the choroid plexus, on the floor of each lateral ventricle and roof of the 3rd ventricle and 4th ventricles

61
Q

How much CSF is produced?

A

In an adult, about 500ml of CSF is produced each day.

CSF volume is about 150ml and is replaced every 8 hours.

62
Q

How does CSF flow?

A

Leaves via lateral / median apertures in the roof of 4th ventricle –> sub-arachnoid space then drained into venous circulation through arachnoid villi (clusters are called arachnoid granulations) which opens into the superior sagittal sinus

63
Q

How is the somatic nervous system different from the autonomic (visceral) nervous system?

A

Somatic nervous system

  • lower motor neurones exert direct control over skeletal muscles and has an excitatory effect
  • Heavily myelinated axons
  • neurotransmitter in effect is Ach

ANS

  • there is a second motor unit separating the CNS and target tissues
  • visceral motor neurons in CNS are called preganglionic neurones (lightly myelinated) –> synapse onto ganglionic neurone in peripheral ganglions
  • Post ganglionic axons are not myelinated
  • Stimulation leads to either excitation / inhibition of target tissue depending on wheter the post-ganglionic neurone releases noradrenaline (sympathetic) or acetylcholine (parasympathetic)
64
Q

Where are the sympathetic post ganglion neurones?

A

Thoracolumbar

  • some are paravertebral (sympathetic chain ganglia) and controls effector in the head / limbs / inside thoracic cavity and body wall
  • some are prevertebral (collateral ganglia, anterior to vertebral bodies) and they innervate the abdomen / pelvic cavity

Preganglionic fibres are short
Post ganglionic fibres are long and unmyelinated –> stimulates effector by releasing noradrenaline

Adrenal medulla also acts as ganglion –> releases adrenaline (75-80%) / noradrenaline in to blood vessels

65
Q

Where are the parasympathetic division?

A

Preganglionic fibres are in the brainstem / sacral segments of the spinal cord and are long

  • terminal ganglion are located near the target organic and someimtes ganglia are embedded into tissue (intramural)
  • stimulates effector by releasing Ach
66
Q

What are the difference in duration of effect between Ach and NE?

A

Ach effect
- 20msec
NE effect
- a few seconds then gets broken down by monoamine oxidase (MAO) in the varicosities then cetechol-o-methyltransferase (COMT) in surrounding tissues
- lasts even longer in blood stream as does not contain MAO / COMT

67
Q

What is one of the most important mechanism of controlling neural migration?

A

Radial glial fibre system

68
Q

What is holoprsencephaly?

A

Hole - whole
Prosencephalon - cerebral and diencephalon

i.e defective splitting of the cerebral hemispheres, which usually occurs around 4-6th gestation weeks

Wide spectrum of defects / deformities and can be a/w facial abnormalities

Alobar is the most severe form

  • no differentiation into lobes
  • single ventricle
  • absent falx (large cresent shape meningeal layer of dura that separates the cerebral hemisphere)
  • fused basal ganglia
69
Q

What is lissencephaly?

A

Disorder of neural migration characterised by

  • thick, 4 layered cortex (instead of 6) with reduced / absent gyration
  • ventricles are enlarged

Genetics

  • Two genes account for 80% of typical cases
  • Autosomal dominant: LIS1 (ch17p13.3) - mostly sporadic
  • X-linked: DCX (Xq22.3) - about 20% familial

Associated syndrome

  • Miller-Diecker syndrome
  • accounts of 15% of lissencephaly
  • LIS1 with dysmorphic face (prominent forehead, bitemporal hollowing, anteverted nostrils, prominent upper lip, micrognathia)

Disabilities

  • Microcephalic
  • Marked developmental delay
  • Severe seizure disorder
  • Spastic quadriplegia or atonic diplegia may be present
  • Ocular abN include hypoplastic optic nerve, microphthalmia
70
Q

What is schizencephaly?

A

Splitting of the brain with fluid-filled clefts that extend from the outer surface of the brain to the lateral ventricle

Most patients are microcephalic, severely impaired, have difficult to control seizures. When clefts are bilateral –> spastic quadriplegic

71
Q

How does polymicrogyria affect children?

A

Disorder of late neuronal migration / early cortical organisations

  • characterised by microscopic over-folding of the cortex which might be unlayered or 4-layered
  • due to insults occurring before 6th month of fetal life
  • cortex appears thick

Clinical features highly variable
- can be a/w hypotonic or spastic forms of CP

72
Q

What is porencephaly?

A

Presence of cysts / cavities in the brain

  • May be the result of dissolution of brain tissue in utero due to vascular accident or intrauterine encephalitis like toxoplasmosis or CMV
  • Frequent cause of localised forms of CP

Hydrancephaly is the most extreme form

  • entire cerebral hemispheres are replaced by fluid-filled cystic cavity which transilluminates
  • Superficially normal at birth but soon discover to have severe spastic quadriparxsis, blindness and convulsions
  • usually dies before 3 yo
73
Q

What is the presentation and syndromic a/w agenesis of corpus callosum?

A

Aetiology

  • The band of white matter connecting the two hemispheres in the brain is missing
  • A/w use of cocaine in utero

Symptoms
- spectrum from normal intelligence –> range of severe retardation

Assoc syndrome

  • Aicardi syndrome (X-linked ? dominant, only found in girls and boys with 47 XXY)
  • Triad of agenesis of corpus callosum, infantile spasm and ocular abnormalities
74
Q

What is septo-optic dysplasia?

A

One of the causes of congenital panhypopituitarism

Triad of:

  • Absent midline brain structure (corpus callosum / septum pellucidum)
  • Hypoplastic optic nerve
  • Pituitary hypoplasia
75
Q

What is hydrocephalus?

A

AbN accumulation of CSF resulting in raised ICP

normal ICP is 10-20cmH2O

76
Q

What is the differential between obstructive and communicative hydrocephalus?

A

Obstructive

  • most commonly due to aqueduct stenosis
  • family history of condition will suggest X-linked hydrocephalus which is associated with short-flexed thumbs and mental retardation
  • multiple cafe-au-alit spots suggest neurofibromatosis

Communicative

  • Most commonly due to IVH in prems or SAH
  • Obliteration of cisterns of arachnoid granulations
  • Also common after pneumococcal / tuberculous meningitis
77
Q

What is Dandy-Walker malformation?

A

Cystic expansion of 4th ventricle in posterior fossa due to developmental failure of the roof

A/w

  • hydrocephalus
  • agenesis of posterior cerebella vermis and corpus callous

Examines with rapidly increasing head size and prominent occiput.

Most have cerebella taxis and global developmental delay

78
Q

What kind of headshape will craniosyntosis of these sutures cause?

  • Saggital
  • Coronal
  • Metopic
  • Lamboid
A

Saggital

  • most common
  • long, narrow skull (scaphocephaly)

Coronal

  • second most common
  • frontal plagiocephaly
  • unilateral flattening of the forehead
  • elevation of ipsilateral orbit and eyebrow with prominent ear

Metopic

  • Trigocephaly, keel-shaped forehead and hypotelorism
  • a/w developmental anomalies of forebrain

Lamboid suture

  • occipital plagiocephaly
  • bulging ipsilateral frontal bone
79
Q

What syndromes are craniosyntosis a/w?

A

Crouzon syndrome

  • Autosomal dominant craniosyntosis
  • Usually both coronal sutures are fused –> brachycephaly
  • Proptosis due to underdeveloped orbits
  • Hypoplastic maxilla and orbital hypertelorism

Apert syndrome

  • usually sporadic but can be autosomal dominant
  • Fusion of multiple sutures
  • Asymmetrical facies w less proptosis than Crouton
  • Syndactaly
  • Progressive calcification and fusion of bones of hands, feet and C-spine

Crouzon and Apert are both caused by mutations of fibroblast growth factor genes

80
Q

What are the different types of neural tube defects?

A

Anencephaly
- absence of a major portion of the brain, skull, and scalp

Encephalocele

  • aka cranial bifidum
  • sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

Myelomeningocele
- out pouching of sac with cord and overlying layers through absent vertebral column

Meningocele
- outpounching of sac with no cord

Spinal bifida occulta
- unfused vertebrae

81
Q

What causes neural tube defect?

A

Multifactorial

  • Folate deficiency
  • Teratogens (sodium valproate especially)

Incidence

  • 1:1000 births
  • Risk increases 4-8% if already have one affected child, >10% if two affected child
  • F > M

Diagnosis

  • Elevated serum or amniotic AFP
  • A/N scans
82
Q

What is subcortical band heterotropia?

A

Disorder of neuronal migration characterised by bilateral bands of heterotypic neurone interspersed between the cortex and lateral ventricles
ie ‘double cortex’

Gene

  • 60% caused by mutations in DCX gene
  • Males get lissencephaly and females get SBH

Clinical features

  • Seizures
  • intellectual disability
83
Q

What does vein of galen malformation cause?

A

Enlarged developmental malformation of the great cerebral vein
- most frequent AV malformation in fetus / infants

Causes

  • Risk of SAH
  • Hydrocephalus
  • Heart failure due to the size of the arteriovenous shunt that can steal 80% or more of the cardiac output, with large volumes of blood under high pressure returning to the right heart and pulmonary circulation

Clinical features of

  • Macrocephaly (hydrocephalus)
  • Lound intracranial bruit
  • Vascular nave