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3 - Y5 Paeds > Neuro > Flashcards

Neuro Flashcards

1
Q

What is cerebral palsy?

A
  • An umbrella term for a permanent disorder of movement and/or posture, due to a non-progressive abnormality in the developing brain
  • If the brain injury occurs after 2yo, it is diagnosed as an acquired brain injury
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2
Q

What is the aetiology of cerebral palsy

A
  • Antenatal (80%)
    • Cerebral dysgenesis/malformations,
    • Congenital infections (rubella, toxoplasmosis, CMV)
    • May be linked to genetic syndromes
  • Perinatal (10%)
    • Hypoxic ischaemic encephelopathy (HIE)
    • Birth trauma
  • Postnatal (10%)
    • Meningitis
    • Encephalitis
    • Encephalopathy
    • IVH
    • Head trauma (accidental or NAI)
    • Symptomatic hypoglycaemia
    • Hydrocephalus
    • Hyperbilirubinaemia
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3
Q

Are all clinical manifestations of cerebral palsy evident at birth?

A
  • condition is non-progressive, BUT
  • clinical manifestations arise over time
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4
Q

How is cerebral palsy classified?

A

According to neurological features:

  • Spastic (90%)
    • Damage to the upper motor neuron (pyramidal or corticospinal tract) pathway (loss of inhibition of LMN pathways)
    • Hemiplegia: damage to MCA territory
    • Diplegia: IVH, ventricular dilation, periventricular lesion
    • Quadriplegia: widespread bilateral cerebral lesions
  • Dyskinetic (6%)
    • Damage to extrapyramidal pathways (basal ganglia, thalamus)
  • Ataxic (4%)
    • Damage to cerebellum
    • Usually genetically-determined
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5
Q

What are some RFs for cerebral palsy?

A
  • prematurity/LBW
  • birth trauma/HIE
  • infections
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6
Q

What is the most common cause of motor impairment in children?

A

cerebral palsy

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7
Q

What are the early features (symptoms) of cerebral palsy?

A
  • Usually presents in infancy
  • Early features:
    • Abnormal limb/trunk posture & tone in infancy (hypertonia or hypotonia)
    • Delayed motor milestones (e.g. head lag, unable to sit without support, leg scissoring and pointed toes, can’t crawl/walk, abnormal gait, may only use 1 side of body)
    • Feeding difficulties → oromotor incoordination, gagging, vomiting
    • Asymmetric hand function before 12mo
    • Primitive reflexes may persist
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8
Q

What are the signs and symptoms of spastic cerebral palsy?

A

Affected limbs have:

  1. increased tone
  • Dynamic catch (faster muscle is stretched, the greater resistance it has)
  • ‘Clasp knife tone’ (tone may suddenly yield under pressure)
  • May initially present with hypotonia

2. brisk reflexes

3. extensor plantar responses

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9
Q

What is dynamic catch?

A
  • faster muscle is stretched, the greater resistance it has
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10
Q

What is clasp knife tone?

A

tone may suddenly yield under pressure

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11
Q

What are the signs and symptoms of spastic hemiplegia cerebral palsy? How does this first present and change over time?

A
  • Unilateral involvement of arm and leg;
  • arm > leg
  • face spared
  • Presents at 4-12mo with:
    • hand fisting
    • early hand preference
    • characteristic posture (abducted shoulder, flexed elbow and wrist, pronated, forearm, extension of fingers)
  • Subsequently, a tiptoe walk (toe-heel gait) on the affected side
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12
Q

What are the signs and symptoms of spastic diplegia cerebral palsy?

A
  • All 4 limbs affected
  • legs >> arms
  • Motor difficulties are most apparent with functional use of the hands
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13
Q

What are the signs and symptoms of spastic quadriplegia cerebral palsy?

A
  • All 4 limbs affected, often severely;
  • arms > legs
  • Trunk is involved →
    • opisthotonus
    • poor head control
    • low central tone
  • Often associated with seizures, microcephaly and intellectual impairment
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14
Q

What does opisthotonus mean?

A

spasm of the muscles → backward arching of the head, neck, and spine

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15
Q

What are the signs and symptoms of dyskinetic cerebral palsy? When do these first appear?

A
  • Abnormal movements appear towards first year of life
  • May be described as:
    • Chorea: irregular, sudden, brief non-repetitive movements
    • Athetosis: slow writhing movements occurring more distally, e.g. fanning of fingers
    • Dystonia: simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles → twisting appearance
    • Variable tone
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16
Q

What is chorea?

A

Chorea: irregular, sudden, brief non-repetitive movements

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17
Q

What is athetosis?

A

Athetosis: slow writhing movements occurring more distally, e.g. fanning of fingers

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18
Q

What is dystonia?

A

Dystonia: simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles → twisting appearance

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19
Q

What are the signs and symptoms of ataxic cerebral palsy?

A
  • Hypotonic
  • Early:
    • trunk and limb hypotonia
    • poor balance
    • delayed motor development
  • Later, there may be:
    • incoordinate movements
    • intention tremor
    • ataxic gait
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20
Q

What happens to muscle tone in:

a) spastic CP
b) dyskinetic CP
c) ataxic CP ?

A
  • spastic CP = hypertonia
  • dyskinetic CP = variable tone
  • ataxic CP = hypotonia
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21
Q

How is functional ability in cerebral palsy classified?

A
  • Functional ability is classified by the Gross Motor Function Classification System (GMFCS)
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22
Q

Does cerebral palsy present as distinctly spastic, dyskinetic or ataxic?

A

May be mixed

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23
Q

Does cerebral palsy present as distinctly spastic, dyskinetic or ataxic?

A

May be mixed

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24
Q

Descrive levels 1-5 of the Gross Motor Function Classification System (GMFCS)

A
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25
Q

What are the Ix conducted in ?cerebral palsy

A
  • Children with high-risk factors for brain damage (e.g. significant prematurity, delivery complications) should have a formal standardised assessment of general movements
    • Specialised assessment → performed by trained therapist or clinician
  • Clinical diagnosis (by specialist)
  • MRI
    • Not required for diagnosis but every child should have one
    • May help to identify cause of CP, direct further Ix and support explanations to parents
  • Other Ix depend on likely cause, e.g. genetic testing, coagulation studies, metabolic screen
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26
Q

What is the Mx of cerebral palsy?

A

Tx is individually tailored for each patient:

  1. Educate and assist parents
  2. MDT approach
    1. Occupational therapy, physiotherapy and speech therapy is the mainstay of management
  3. Medical management
  4. ~ Surgery
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27
Q

What is important when educating and assisting parents in the Mx of cerebral palsy?

A
  • Give details of diagnosis ASAP
  • Difficult to give prognosis during infancy until pattern/progress has become cleared over months/years
  • Assist in helping child to achieve:
    • developmental milestones
    • feeding skills
    • communication
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28
Q

Who is involved in the MDT approach Mx of cerebral palsy?

A
  • Paediatrician → assessment, diagnosis, medical management
  • Specialist health visitor → coordinate MDT and multi-agency care, advice on play, local authority schemes
  • Physiotherapist → orthoses (braces, splints)
  • Dietician (may need NG tubes etc.)
  • Occupational therapist → ADLs, housing adaptation
  • SALT → feeding, language, speech
  • Psychologist → counselling and support for parents
  • Social worker/social services → advice on benefits, day nursery placements, advocate for child/family
  • Education → special schools if necessary
  • Charities, e.g. Scope (support, advice)

Careful planning for transfer to adult services

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29
Q

What is the medical Mx of cerebral palsy?

A
  • Diazepam or botulinum injections for spasticity
  • Carbidopa/levodopa for dystonia
  • Glycopyrronium bromide to reduce saliva production
  • Anticonvulsants for seizures
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30
Q

Why might surgery be required in the Mx of cerebral palsy?

A
  • May be needed to correct soft tissue/bony deformities
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31
Q

What are the possible complications of cerebral palsy?

A
  • Feeding difficulties, aspiration pneumonia
  • Microcephaly, hydrocephalus
  • Poor growth, failure to thrive
  • Vision and hearing problems
  • Epilepsy
  • Behavioural problems
  • Unemployment, inability to live independently, decreased educational levels
  • Adults have increased risk of stroke, COPD, CVD (probably due to decreased activity) What are the possible complications of cerebral palsy
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32
Q

What is the prognosis of cerebral palsy?

A

Prognosis is variable → depends on severity

  • Most people have reasonably normal life expectancy (around 10yrs less unless very severe)
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33
Q

What is hypoxic ischaemic encephalopathy (HIE)?

A

Clinical manifestation of a brain injury occurring after a hypoxic-ischaemic event in the prenatal, intrapartum or postnatal period

  • hypoxic-ischaemic event → brain injury → clinical manifestation
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34
Q

What is the pathophysiology of HIE?

A

Due to failure of oxygenation across the placenta, umbilicus or postnatal respiratory depression → cardiorespiratory depression

  • Leads to hypoxaemia, hypercarbia and respiratory acidosis
  • Low cardiac output → decreased tissue perfusion, ischaemia and metabolic acidosis
    • This causes hypoxic-ischaemic injury to the brain and multi-organ dysfunction
  • Neurological damage may be immediate (from primary neuronal death) or delayed (reperfusion injury causing secondary neuronal death)
  • The neonatal condition is called hypoxic-ischaemic encephalopathy (HIE)
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35
Q

What are the causes of HIE?

A

Maternal:

  • PLACENTA: Failure of placental gas exchange
    • excessive uterine contractions, placental abruption, uterine rupture
  • PLACENTA: Inadequate maternal placental perfusion
    • hypo or hypertension
  • UMBILICAL CORD: Interruption of umbilical blood flow
    • cord compression, cord prolapse

Foetal:

  • Failure of cardiorespiratory adaptation at birth
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36
Q

Does every child with HIE develop significant neurologic disability ?

A

NO

4/1000 live-born term infants develop HIE

0.3/1000 have significant neurologic disability

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37
Q

What are the signs and symptoms of HIE?

A

May present immediately or up to 48hrs later

  • Poor APGAR scores
  • Need for neonatal resuscitation
  • Graded according to severity (Sarnat staging)
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38
Q

What are the signs of HIE with multi-organ dysfunction?

A

last row

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39
Q

What is an APGAR score?

A
  • method to assess the health of newborn babies immediately after birth
  • determined by evaluating the newborn baby on 5 criteria:
    • Appearance
    • Pulse
    • Grimace
    • Activity
    • Respiration
  • scored on scale from 0-2 → add up scores → final score ranges from 0-10
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40
Q

Summarise stages 1-3 of the Sarnat staging (grades according to severity of HIE)

A
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41
Q

What is the Moro reflex?

A
  • normal, primitive reflex
  • involuntary protective motor response against abrupt disruption of body balance or extremely sudden stimulation
  • Elicited by pulling up on the infant’s arms while in a supine position and letting go of the arms causing the sensation of falling

Normal reflex =

Initial phase:

  1. abduction of upper extremities
  2. extension of arms
  3. fingers extend
  4. slight extension of the neck and spine

Second phase:

  1. arms adduct
  2. hands come to front of body
  3. hands return to infant’s side.
  • begins to disappear by 12 weeks with complete disappearance by six months
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42
Q

What are the Ix for ?HIE

A
  • APGAR scores
  • Bloods:
    • FBC, U&Es, TFTs, clotting screen
    • Metabolic screen
  • aEEG (amplitude-integrated electroencephalogram)
    • To detect abnormal background brain activity (to confirm early encephalopathy) or identify seizures
  • MRI brain
    • Identifies PVL, stroke, haemorrhage
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43
Q

What is the initial Mx of HIE?

A

Initial management:

  • ABCDE approach, NICU
  • Mild hypothermia
    • Wrap in cooling blanket → cool to rectal temperature of 33⁰C for 72hrs
    • Reduces secondary brain injury if started within 6hrs of birth
  • Respiratory support if needed
  • Fluid restriction (due to transient renal impairment), volume and inotropes for hypotension
  • Treat seizures
  • Correct electrolyte imbalances
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44
Q

What are the complications and prognosis of HIE?

A

Complications and prognosis depend on severity

  • Mild: complete recovery
  • Moderate but clinical recovery by 2wks: good prognosis
  • Moderate but clinical abnormalities at 2wks: full recovery is unlikely
  • Severe: 30-40% mortality, 80% neurodisability (e.g. cerebral palsy, epilepsy, infantile spasms)
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45
Q

What is a febrile convulsion?

A
  • A seizure occurring in febrile children
    • between the ages of 6 months and 6yrs
  • who do not have:
    • an intracranial infection,
    • metabolic disturbance or
    • history of afebrile seizures
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46
Q

What is the pathophysiology of febrile convulsions

A

Pathophysiology is unknown but likely to be due to an immature/hypersensitive hypothalamus

  • Febrile seizures are dependent on a threshold temperature (which varies between individuals)
  • Threshold temperature increases with age → older children have higher threshold so lower risk

Seizure usually occurs early in a viral infection (when temperature is rising rapidly)

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47
Q

What are the classifications of febrile convulsions?

A
  • simple
  • complex
  • status epilecticus
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48
Q

Summarise the different classifications of febrile convulsions

A
  • Simple febrile seizure (most common):
    • generalised tonic-clonic activity
    • without focal features,
    • for <10mins,
    • without a recurrence in the subsequent 24hrs and
    • resolving spontaneously
  • Complex febrile seizure:
    • focal features,
    • >10-15mins, or
    • recurrent within 24hrs or within the same illness
  • Febrile status epilepticus:
    • duration >30mins
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49
Q

What are the RFs for febrile convulsions

A
  • FHx,
  • fever
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50
Q

What are the RFs for febrile convulsions

A
  • FHx,
  • fever
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51
Q

Epidemiology of febrile convulsions?

A
  • 3% children between 6 months – 6yrs
  • Peak incidence at 18 months
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52
Q

What are the signs and symptoms of a febrile convulsion?

A
  • Febrile illness → usually T 38.3⁰C or above (sometimes lower)
  • Usually generalised tonic-clonic seizure
    • Usually last <15mins
    • Consciousness is recovered quickly, within 30 mins
    • Usually no sequelae (normal post-ictal neuro exam)
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53
Q

Ix for ?febrile convulsion?

A
  • Clinical diagnosis
  • Focus on the cause of the fever → usually viral but consider bacterial (incl meningitis)
    • Infection screen may be necessary
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54
Q

Mx for febrile convulsions?

A

Acute seizure/prolonged seizure:

  • ABCDE approach
  • Buccal midazolam/rectal diazepam

Supportive management:

  • Antipyretics (paracetamol or ibuprofen)
  • Reassure parents, give advice sheets
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55
Q

Complications of febrile convulsions?

A
  • Subsequent epilepsy
    • Simple febrile seizures have 1-2% risk (similar to all children)
    • Complex have up to 12% risk of subsequent epilepsy
  • Recurrence (more likely in younger children, shorter duration of illness before seizure, lower temperature)
  • Hypoxia if status epilepticus
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56
Q

Prognosis of febrile convulsions?

A
  • Excellent prognosis;
  • grow out of them with age (unless develop epilepsy)
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57
Q

What is vasovagal syncope?

A

A sudden, brief loss of consciousness with loss of postural tone, from which recovery is spontaneous.

Vasovagal syncope is a type of neurally-mediated reflex syncope (NMRS).

AKA common faints

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58
Q

What is the pathophysiology of vasovagal syncope?

A

neural reflex vasodilation and/or bradycardia → symptomatic hypotension → fall in systemic arterial pressure below the minimum needed to sustain cerebral blood flow → temporary inadequacy of cerebral nutrient flow → transient LOC with syncope

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59
Q

What is the epidemiology of vasovagal syncope in children?

A

Common → 15% of children will experience syncope by the end of adolescence

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60
Q

RFs for vasovagal syncope?

A
  • previous Hx of syncopal events,
  • FHx of vasovagal syncope (90%)
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61
Q

What are the symptoms of vasovagal syncope?

A
  • LOC triggered by emotional upset, fear, and pain. Can also be triggered by dehydration, N&V, and prolonged standing.
  • Absence of FHx of sudden cardiac death
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62
Q

What must be ruled out in a patient presenting with syncope, and has a FHx of sudden cardiac death?

A

rule out cardiac diagnoses e.g. structural heart disease, long-QT syndrome, Brugada’s syndrome

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63
Q

Ix for ?vasovagal syncope?

A
  • ECG
  • Bloods:
    • Hb (exclude syncope caused by anaemia)
    • Glucose (exclude syncope caused by hypoglycaemia)
    • Cortisol (exclude syncope caused by adrenal insufficiency)
    • Urea/creatine (exclude syncope caused by dehydration)
  • ~ Echocardiogram
    • If high clinical suspicion of structural heart disease
    • Excludes hypertrophic cardiomyopathy, aortic stenosis, poor ventricular function
  • ~ Tilt table test
    • Used only if there is clinical suspicion of vasovagal syncope, but Hx is not convincing on its own
    • The first step is passive head-up tilt at 60° to 70°, during which the patient is supported by a footplate and gently applied body straps, for a period not less than 20 minutes and in some clinical laboratories for as long as 45 minutes.
    • Subsequently, if needed, tilt testing is repeated with a drug challenge (sublingual glyceryl trinitrate)
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64
Q

What is the Mx of vasovagal syncope

A
  • Mainstay is patient education
    • Patients must be informed that, although reflex faints are almost never life-threatening, they tend to recur (often in clusters), and injury can result if preventive measures are not taken seriously
    • the need to recognise and respond to warning symptoms
    • avoidance of triggers such as prolonged standing, warm environments, and coping with dental and medical settings
  • Techniques to abort syncopal attack: Physical counter-pressure manoeuvres (PCMs)
    • Squatting, arm tensing, leg crossing, and leg crossing with tensing of the lower body muscles
  • Dietary changes: increased salt & electrolyte-rich sports drinks intake
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65
Q

What are the complications and prognosis of vasovagal syncope?

A
  • Injuries and fractures
  • Extradural/cerebral haemorrhage secondary to trauma

Prognosis is dependent on recurrences, which are common but often occur in clusters.

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66
Q

What are breath holding attacks?

A

2 distinct conditions where a child experiences a brief episode of apnoea

  • Blue breath-holding spells (aka expiratory apnoea syncope)

Reflex asystolic syncope (aka reflex anoxic seizures)

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67
Q

Aetiology of breath holding attacks?

A

Blue breath-holding spells (most common):

  • Occur during vigorous crying (that may be triggered by pain, frustration, anger, fear)
  • Mechanism unclear, but includes centrally-mediated reduced respiratory effort and bradycardia

Reflex anoxic seizures:

  • Triggered by a sudden unexpected fright or pain, e.g. a fall with a minor head injury, cold foods (e.g. ice cream)
    • Not caused by the injury itself (but by the fright)
  • Caused by bradycardia and then asytole for 5-30s due to vagal nerve stimulation
    • After 5s of no heartbeat the child starts to lose consciousness; by 30s the heart starts again
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68
Q

Epidemiology of breath holding attacks?

A

Common à 1 in 20 children

Usually start between 6-18 months of age

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69
Q

Signs and symptoms of breath holding attacks?

A

Blue breath-holding spells:

  • Child cries vigorously
  • Then becomes silent and holds their breath in expiration (unable to take a breath)
  • They go blue (cyanosis)
  • Sometimes children briefly lose consciousness but rapidly recover fully (<1min)
    • Many have brief tonic-clonic jerks or opisthotonos
  • Child may be tired for a few hours after

Reflex anoxic seizures:

  • Sudden fright/pain
  • Child opens their mouth as if they are going to cry, turns pale and loses consciousness
  • Tonic-clonic jerks and opisthotonos; may go limp (due to cerebral hypoxia)
  • Lasts <1min
  • Child may be sleepy/confused for a few hours after
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70
Q

Ix for breath holding attacks?

A
  • ECG
    • To exclude cardiac pathology
    • In blue breath-holding spell during the event may show initial tachycardia followed by bradycardia
    • In reflex atonic seizures ECG during the event shows asystole
  • FBC (can be associated with IDA)
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71
Q

Mx for breath holding attacks?

A

Parental education

  • Reassurance; explain they are involuntary
  • Emphasis on consistency and not reinforcing child’s behaviour after attack
    • Behaviour modification therapy with distraction may help

Child should lie flat during attacks to aid cerebral perfusion

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72
Q

Complications and prognosis for breath holding attacks?

A

Attacks resolve spontaneously and are benign; usually stop by 5-6yo

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73
Q

What is an intraventricular haemmorhage?

A

Bleeding into (or around) the brain’s ventricles, which usually occurs in premature infants

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74
Q

Aetiology of intraventricular haemmorhage?

A

Usually occur in the germinal matrix (tissue located adjacent to the lateral ventricles)

  • The vessels in the germinal matrix are thin-walled and fragile, so susceptible to damage from fluctuations in cerebral blood flow
    • The germinal matrix involutes by week 36 (so term infants are not affected)
  • Haemorrhage impairs blood flow to the migrating neuroblasts à impaired brain development
  • Large haemorrhages (extending into the ventricles) impair the drainage and reabsorption of CSF à may progress to hydrocephalus

Periventricular white matter brain injury may occur following ischaemia or infarction (even in the absence of haemorrhage) à this is periventricular leukomalacia when there are bilateral multiple cysts

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75
Q

Classification of intraventricular haemmorhage?

A
  • Grade I: germinal matrix haemorrhage
    • Bleeding confined to germinal matrix/subependymal region
    • Bleed occupies <10% of ventricle
  • Grade II: intraventricular blood without ventricular dilation (most common – 40%)
    • Bleed fills 10-50% of ventricle
  • Grade III: intraventricular blood with ventricular dilation
    • Dilated ventricles which are >50% full of blood
  • Grave IV: parenchymal involvement of haemorrhage

Aka periventricular venous infarction

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76
Q

RFs for intraventricular haemmorhage?

A
  • prematurity (main one),
  • perinatal asphyxia,
  • severe RDS,
  • hypoxia,
  • pneumothorax,
  • sepsis,
  • hypotension,
  • hypertension
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77
Q

Epidemiology of intraventricular haemmorhage?

A

Most common in low BW infants: 40% if <1500g, 50% if <1000g

Uncommon in term infants (but occasionally seen in trauma/asphyxia)

Highest incidence in first 72hrs of life: 60% within 24hrs, 85% within 72hrs

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78
Q

Signs and symptoms of intraventricular haemmorhage?

A
  • May be asymptomatic (esp grade I/II) or alternating symptomatic and asymptomatic periods
  • Poor tone
  • Apnoea
  • Lethargy, sleepiness
  • Seizures, coma
  • Diminished/absent primitive reflexes
  • Bulging fontanelle (in severe IVH)
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79
Q

Ix for intraventricular haemmorhage?

A
  • Bloods:
    • FBC, clotting (may have reduced Hb which fails to improve on transfusion)
    • ABG (metabolic acidosis)
  • Cranial USS
    • For diagnosis and classification
    • Periventricular leukomalacia is difficult to detect à initially there may be an echo-dense area or ‘flare’ within the brain parenchyma
    • 50% infants who go onto have cerebral palsy have normal cranial USS (false negatives)
  • MRI
    • Further assessment of brain injury
80
Q

Mx for intraventricular haemmorhage?

A

Prevention and screening:

  • Antenatal glucocorticoids prior to preterm delivery à reduce incidence and severity of RDS (so reduce IVH)
  • All newborn babies should be given vitamin K
  • Routine USS or all infants <32wks in 1st and 2nd weeks of life

Initial management:

  • Correct anaemia, acidosis and hypotension
    • Packed RBCs or FFP
    • Sodium bicarbonate infusion for metabolic acidosis
  • Ventilatory support if needed
  • Anticonvulsants for seizures
  • Mannitol for raised ICP
  • Acetazolamide can be used to decrease CSF production à limits late or rapidly progressive hydrocephalus

Post-haemorrhagic hydrocephalus:

  • Symptomatic relief by removal of CSF (LP or ventricular tap)
  • Ventriculoperitoneal shunt (definitive treatment)

Long-term management:

  • E.g. for neurodevelopmental impairment, seizures, hydrocephalus
81
Q

Complications and prognosis of intraventricular haemmorhage?

A

Complications:

  • Hydrocephalus (15%)
  • Neurological complications: seizures, developmental delay, cerebral palsy

Prognosis depends on grade

  • Grade I and II: rarely have harmful complications (as they originate in germinal matrix, which disappears)
  • Grade III: neurological impairment in 45%
  • Grade IV: neurological impairment in 80%; 50% mortality
82
Q

What is hydrocephalus?

A

Excess CSF in the cerebral ventricles

83
Q

Aetiology of hydrocephalus?

A

There is accumulation of cerebrospinal fluid in the brain

  • Increased CSF leads to ventricular dilatation, and subsequently permeates through the ependymal lining into the periventricular white matter
  • This leads to raised ICP and white matter damage
    • In infants, there is initial compensation for raised ICP from open fontanelles
  • Arrested hydrocephalus occurs if the ICP returns to normal, despite the ventricles remaining dilated
    • In infants, normal development resumes but any pre-existing damage remains
84
Q

Classification of hydrocephalus?

A
  • Obstructive/non-communicating:
    • The flow of CSF is obstructed within the ventricles, or between the ventricles and subarachnoid space
    • Causes:
      • Aqueductal stenosis or atresia (most common cause of congenital hydrocephalus in infants)
      • Obstruction of the 4th ventricle: Dandy-Walker syndrome – associated with cerebellar hypoplasia)
      • Obstruction due to intracranial mass: tumours of the posterior fossa (medulloblastoma, astrocytoma, ependymoma), haematomas, vein of Galen aneurysm
  • Communicating:
    • There is communication between the ventricles and subarachnoid space, but there is disruption in the flow of CSF in the surface pathways
    • Causes:
      • Chiari malformations (herniation of the cerebellar tonsils through the foramen magnum, frequently associated with neural tube defects)
      • Encephalocoele (protrusion of cerebral tissue through midline cranial defect in frontal or occipital regions)
      • Meningeal adhesions: secondary to inflammation (meningitis) or haemorrhage (IVH or SAH)
      • Increased CSF production (rare): choroid plexus papilloma
  • Congenital hydrocephalus is when it is present at birth (usually obstructive – associated with malformations); acquired hydrocephalus develops later (e.g. due to brain tumours, meningitis)
85
Q

Epidemiology of hydrocephalus?

A

Congenital hydrocephalus affects 3/1000 live births; related to other defects

86
Q

Signs and symptoms of hydrocephalus?

A
  • Infants:
    • Presentation depends on speed of onset
      • Acute: irritability, vomiting, impaired consciousness
      • Gradual: failure to thrive, developmental delays, poor head control
    • On examination:
      • Disproportionately large head circumference (because skull sutures not yet fused)
      • Separation of skull sutures
      • Bulging anterior fontanelle
      • Setting sun sign (eyes deviate downwards, upper lids retracted and white sclerae visible above iris)
  • Older children:
    • Presentation depends on speed of onset:
      • Acute: headache, vomiting, altered mental state
      • Gradual: unsteady gait (due to spasticity in legs), headache
    • On examination:
      • Papilloedema
      • Setting sun sign
      • Large head (in gradual)
      • Unilateral or bilateral CNVI palsy (due to raised ICP)
87
Q

Ix for hydrocephalus?

A
  • Can be diagnosed on antenatal USS screening or, in preterm infants, on routine cranial USS
  • For suspected hydrocephalus:
    • Cranial USS (in infants) or CT head (in children)
      • For initial assessment
      • CT with or without contrast is considered adequate
      • Dilation of the ventricular system occurs proximal to the site of obstruction
        • E.g. dilated lateral and 3rd ventricle: aqueduct stenosis
        • Generalised dilatation: communicating hydrocephalus
    • MRI
      • Shows greater detail; contrast shows flow of CSF
    • Monitor head circumference and plot on centile chart
88
Q

Mx for hydrocephalus?

A

Supportive management:

  • MDT approach and long-term follow-up
  • LP: for symptomatic relief in acute deterioration
  • Medication, e.g. furosemide: short-term relief until surgery

Surgery:

  • Ventriculoperitoneal shunt
    • Mainstay of management
    • Drains CSF through a valve from the ventricle to the peritoneum (or R atrium)
89
Q

Complications and prognosis of hydrocephalus?

A

Complications:

  • Shunt complications: obstruction, infection (esp. S. epidermidis), over-drainage (causing low-pressure headaches)
  • Long-term sequelae:
    • Developmental delay, learning difficulties
    • Epilepsy
    • Precocious puberty

Most cases have poor prognosis (as ventricles enlarge and continue to compress brain matter)

  • Better prognosis with early treatment (before irreversible brain damage) or if due to a temporary cause (e.g. meningitis)
90
Q

What is cerebral haemorrhage?

A

Bleed inside the extradural, subdural or subarachnoid space

91
Q

Aetiology of cerebral haemorrhage?

A

Extradural:

  • Direct head trauma causing arterial or venous bleeding, usually of the middle meningeal artery over the temporal bone

Subdural:

  • Tearing of veins between the arachnoid and pia mater causes a chronic subdural; acute subdural may occur in neonates by rupture of the vein of Galen
  • Due to birth trauma (e.g. forceps delivery), high fall, NAI caused by shaking

Subarachnoid (rare in children):

  • Due to ruptured berry aneurysm or arteriovenous malformation
  • Berry aneurysms arise because of haemodynamic stress in intracranial arteries that are susceptible, e.g. Ehlers-Danlos syndrome, Marfan syndrome
92
Q

Epidemiology of cerebral haemorrhage?

A

Extradural and subdural are most common in young infants

M>F (esp for extradural)

93
Q

Signs and symptoms of cerebral haemorrhage?

A
  • Signs of raised ICP (in all types)
    • Early signs: nausea, vomiting, confusion, drowsiness
    • Late signs: Cushing response (increased BP, decreased HR), ipsilateral CNIII palsy, papilledema, coma
  • Extradural:
    • Hx of trauma (may have lucid interval after), signs of trauma
    • Severe headache
  • Acute subdural:
    • Shock, seizures, coma
  • Chronic subdural:
    • Macrocephaly
    • Failure to thrive, developmental delay
  • Subarachnoid:
    • Sudden onset severe occipital headache
    • Neck stiffness, photophobia
94
Q

Ix for cerebral haemorrhage?

A
  • Urgent CT
    • Indications for CT after head injury in children:
      • Witnessed LOC or amnesia lasting >5mins
      • Abnormal drowsiness (reduced GCS)
      • 3 or more discrete episodes of vomiting
      • Suspicion of NAI
      • Post-traumatic seizure (but no Hx of epilepsy)
      • Suspicion of skull injury or tense fontanelle
      • Signs of basal skull fracture (Battle’s sign, panda eyes, CSF leak from ears/nose)
      • Focal neurological deficit
      • <1yo and bruise/swelling/laceration >5cm on head
      • Dangerous mechanism of injury
  • Consider:
    • Clotting studies
    • Angiography (aneurysms/AV malformation in SAH)
95
Q

Mx of cerebral haemorrhage?

A

Initial management:

  • ABCDE approach
  • Cervical spine immobilisation (if traumatic mechanism)
  • Ventilatory support and fluids/blood transfusion if shocked
  • Treatment of raised ICP: 30% head of bed elevation, mannitol, hypertonic saline

Surgery:

  • Evacuation of haematoma
  • Correction of AV malformation/aneurysm (in SAH)
96
Q

Complications and prognosis of cerebral haemmorhage?

A

Complications:

  • Hydrocephalus
  • Uncal/central herniation due to raised ICP
  • Cerebral ischaemia

High mortality but prognosis improved with early intervention

97
Q

What are seizures?

A

A seizure is a transient occurrence of signs/symptoms due to abnormal activity in the brain

  • The term ‘seizures’ includes epileptic and non-epileptic
98
Q

What are epileptic seizures?

A
  • The nature of the underlying electrical activity in the brain determines whether a seizure is epileptic or not
  • They are due to excessive and hypersynchronous electrical activity, in neural networks or in all or part of the cerebral cortex
  • Can be difficult to distinguish clinically between epileptic and non-epileptic
  • Not all seizures mean the child has epilepsy!
99
Q

What is a convulsion?

A
  • A convulsion is a seizure (epileptic or non-epileptic) with motor components
    • E.g. stiff (tonic), massive jerk (myoclonic), jerking (clonic)

Not seen in all seizures, e.g. absence seizures, some focal epileptic seizures, epileptic atonic seizure (drop attack

100
Q

What are acute symptomatic epileptic seizures?

A
  • When epileptic seizures are provoked by an acute brain injury
  • This is not epilepsy, even if recurrent
101
Q

Summarise seizures in newborns

A

Seizures in newborns are very subtle

  • They do not have tonic-clonic seizures because neurons are not myelinated à transmission is not fast enough
  • Can have seizures that are just limited to colour change
102
Q

What are the causes of seizures?

A
103
Q

What is the acute management of seizures?

A
  • The longer the seizure duration, the worse the outcome and the more difficult the treatment à must terminate ASAP
  • After immediate primary assessment and resuscitation (ABCDE approach), the aim of management is to stop the seizure by treating any reversible causes (e.g. hypoglycaemia, electrolyte disturbances)
  • The aim is to prevent any seizure which is prolonged (i.e. lasts >5mins) from developing into status epilepticus
  • The diagram shows management protocol for status epilepticus
104
Q

What is epilepsy?

A

2 or more epileptic seizures, unprovoked by an immediately identifiable cause

  • Or diagnosis of an epilepsy syndrome
105
Q

Aetiology of epilepsy?

A

Usually ‘genetic’ (i.e. idiopathic) with complex inheritance

  • Can also be caused by structural or metabolic damage (see photo)
106
Q

Classification of epilepsy?

A
  • Generalised:
    • Discharge arises from both hemispheres à bilaterally synchronous, symmetrical
    • Includes absence, myoclonic, tonic, tonic-clonic, atonic
  • Focal:
    • Originate from a relatively small group of dysfunctional neurons in one of the cerebral hemispheres
    • Manifestations depend on the part of the brain where the discharge originates or moves to
      • Frontal (involve motor or pre-motor cortex), temporal, occipital, parietal seizures
  • Can be difficult to tell whether a seizure is generalised or focal, esp in <5yo
107
Q

RFs for epilepsy?

A
  • FHx,
  • head trauma,
  • HIE,
  • cerebral malformations,
  • neurocutaneous syndromes (e.g. TS)
108
Q

Epidemiology of epilepsy?

A

1% children

Different types of epilepsy present at different times (see signs and symptoms)

109
Q

What are the types of generalised seizures in epilepsy?

A
  • LOC
  • Absence seizures:
    • Short episode (<20s) where child stares or binks, with no awareness of surroundings
    • May present as ‘day dreaming’ in school
    • Abrupt onset and termination; no aura or postictal phase
      • Myoclonic seizures:
        • Brief, often repetitive, jerking movements of limbs, neck or trunk
        • If they evolve into rhythmic jerking movements, classified as a clonic seizure
  • Tonic seizure:
    • Sudden increase in tone (neck, trunk, limbs) à extension or flexion
  • Generalised tonic-clonic seizure (GTCS):
    • Rhythmic contraction of muscle groups (jerking) followed by tonic phase
    • Irregular breathing, may become cyanosed, accumulation of saliva in mouth
    • Tongue-biting, urinary incontinence
    • Postictal phase (deep sleep, drowsiness) for hours afterwards
  • Atonic seizures:
    • Brief loss of postural tone à sudden fall or drop of head
    • Usually associated with significant neurological abnormalities
110
Q

What are the types of focal seizures in epilepsy?

A
  • Simple partial seizures: seizure with preservation of consciousness
  • Complex partial seizures: similar to simple, but impaired consciousness and postictal phase
  • Partial seizures with secondary generalisation: focal seizure followed by tonic-clonic seizure
    • May cause an aura (sensory symptoms) before tonic-clonic
      • Symptoms depend on area of the brain affected:
        • Frontal seizure: motor phenomena
          • E.g. clonic movements, Jacksonian march
        • Temporal lobe seizure: auditory, smell or taste phenomena
          • Also automatisms (lip-smacking, plucking at clothing), de-ja vu
        • Occipital seizure: visual phenomena
          • E.g. hallucinations, loss of vision
        • Parietal lobe seizure: contralateral altered sensation
          • E.g. unpleasant sensation when touched (dysaethesia), distorted body image
111
Q

What are the epilepsy syndromes?

A
  • Infantile spasms (see separate topic)
  • Lennox-Gastaut syndrome:
    • Age of onset: 1-3yo
    • Multiple seizure types (atonic, absence, tonic), developmental regression, learning disability
    • Poor prognosis; often resistant to treatment
  • Childhood absence epilepsy:
    • Age of onset: 4-12yo
    • Multiple absence seizures, may be triggered by hyperventilation
    • Child has no recall
    • 80% remission in adolescence; may evolve into juvenile absence or myoclonic epilepsy
  • Benign Rolandic epilepsy (benign epilepsy with centrotemporal spikes)
    • Age of onset: 4-10yo
    • Clonic seizures affecting face and upper limbs usually in sleep, may progress to GTCS
    • Usually remits in adolescence
  • Panayiotopoulos syndrome (early onset benign occipital epilepsy)
    • Age of onset: 1-5yrs
    • Autonomic features with vomiting and unresponsive staring in sleep, may progress to GTCS
    • Remits in childhood; some have specific learning difficulties
  • Juvenile absence epilepsy:
    • Age of onset: 10-20yrs
    • Absences may progress to GTCS
    • Remission unlikely (lifelong) but usually good treatment response
  • Juvenile myoclonic epilepsy:
    • Age of onset: 10-20yrs
    • Myoclonic seizures, GTCS and absences, usually shortly after waking
    • Remission unlikely (lifelong) but usually good treatment response
112
Q

Ix for epilepsy?

A
  • Thorough history with video footage if possible
    • Most diagnosis is clinical, supported by EEG
  • ECG
    • To rule out convulsive syncope due to an arrhythmia (e.g. long QT syndrome which can be fatal)
  • EEG (electroencephalogram)
    • Used to support diagnosis; usually done after 2nd seizure
    • If seizures are frequent then an ictal EEG can make the diagnosis
    • Provocation techniques can be used to induce a seizure: hyperventilation, photic stimulation, sleep withdrawal
    • Different epilepsy syndromes have characteristic EEGs
      • Infantile spasms: hypsarrhythmia
      • Lennox-gastaut syndrome: slow generalised spike and wave (1-3Hz)
      • Childhood absence epilepsy: generalised spike and wave (3-4Hz) discharges, bilaterally synchronous during and sometimes in between absences
      • Benign Rolandic epilepsy: focal sharp waves from Rolandic area
      • Panayiotopoulos syndrome: posterior and occipital waves when eyes are shut
  • MRI
    • To assess underlying structural abnormalities
    • Particularly used if develop epilepsy <2yo or adult, suggestion of focal onset (unless a benign focal epilepsy is suggested) or seizures continue despite 1st-line medication
  • Metabolic investigations
    • If there is developmental arrest or regression, or if seizures are related to feeds or fasting
113
Q

Mx for epilepsy?

A

MDT approach

  • Specialist epilepsy nurse gives education and advice
  • Education and advice:
    • Aim is to give the child the most confidence and independence as possible
    • Avoid precipitating factors, e.g. alcohol, sleep deprivation, flashing lights
    • Supervision in swimming pools or deep baths
    • Driving is only allowed if free of seizures for 1yr
    • Discuss teratogenicity in adolescents and need for effective contraception
      • Interactions with oral/hormonal contraceptives
      • All women on AEDs should have 5mg folic acid before pregnancy
      • Avoid valproate in girls and women
  • Follow-up at least yearly

Antiepileptic drug (AED) therapy:

  • Principles:
    • Not all children with epilepsy need AED therapy
      • Base decision on seizure type, frequency and consequences of the seizures and SEs of AED
      • E.g. Rolandic epilepsy is not usually treated
    • Choose an appropriate AED for the seizure (i.e. carbamazepine can make absence and myoclonic seizures worse)
    • Monotherapy at the minimum possible dose is ideal (but sometimes more than one AED may be needed)
    • All AEDs have potential side-effects à should be discussed with child and parent
    • AED levels are not measured routinely but may measured to check concordance or if considering dose increase
    • Children with prolonged seizures (>5min) are given rescue therapy to keep with them (buccal midazolam)
    • AED therapy may be discontinued after 2yrs free of seizures
      • Continued indefinitely in juvenile absence or myoclonic epilepsy (as they do not remit)
    • Doses should be started and tapered off slowly, by an epilepsy specialist
  • 1st line choices of AED:
    • Generalised tonic-clonic seizures: valproate or lamotrigine
    • Absence seizures: valproate or ethosuximide
      • Exacerbated by carbamazepine
    • Myoclonic seizures: valproate, levetiracetam or topiramate
      • Exacerbated by carbamazepine and lamotrigine
    • Tonic or atonic seizures: valproate or lamotrigine
    • Focal seizures: carbamazepine or lamotrigine

Other treatment options (considered in drug-resistant epilepsy):

  • Ketogenic (low carb, fat-based) diets
  • Vagal nerve stimulation
  • Epilepsy surgery
114
Q

Complications and prognosis of epilepsy?

A

Complications:

  • Status epilepticus
    • Epileptic seizure lasting >30mins or repeated for 30mins without recovery of consciousness
    • See ‘seizures’ for management
  • Injury due to seizure
  • Sudden unexplained death in epilepsy (SUDEP)
  • SEs of AEDs
    • Valproate: teratogenic; idiosyncratic liver failure; carbamazepine: hyponatraemia, enzyme induction; lamotrigine: rash, insomnia, ataxia; levetiracetam: irritability
  • Developmental delay
  • Poor school performance, poor employment outcomes

Prognosis varies with type of epilepsy

2-3x higher mortality rate than general population

115
Q

What are infantile spasms?

A

An epilepsy syndrome typically presenting in infancy

Infantile spasms are the characteristic seizure type of West’s syndrome (infantile spasms, developmental plateau, hypsarrhythmia

116
Q

Aetiology of infantile spasms?

A

Usually has an underlying neurological cause

  • Prenatal: CNS malformations, chromosomal abnormalities, neurocutaneous syndromes (TS), HIE
  • Perinatal: HIE, hypoglycaemia
  • Postnatal: intracranial infections, HIE, brain tumours
117
Q

Epidemiology of infantile spasms?

A

Rare → 1/3000

Age of onset is typically from 1 month – 1yr (usually 3-5 months)

118
Q

Signs and symptoms of infantile spasms?

A
  • Seizures are characterised by an initial contraction phase followed by a more sustained tonic phase
    • Violent flexor spasms of the head, trunk and limbs, followed by extension of the arms
  • Last 1-2s, often multiple bursts of 20-30
  • Neurodevelopmental delay or regression
    • Loss of previously acquired skills, esp visual and social skills
119
Q

Ix for infantile spasms?

A
  • EEG
    • Diagnostic
    • Shows hypsarrhythmia → chaotic background of slow-wave activity with sharp multifocal components
  • MRI
    • Look for underlying abnormalities
  • Glucose, Ca, Mg, LFTs, U&Es, infection screen (rule out other causes)
120
Q

Mx for infantile spasms?

A

ACTH, vigabatrin and/or corticosteroids (e.g. prednisolone)

Ketogenic diet

121
Q

Complications and prognosis of infantile spasms?

A

Complications:

  • Deterioration in social interaction
  • Loss of developmental skills, developmental delay
  • Lennox-Gastaut syndrome and other epilepsy syndromes: can evolve from infantile spasms
    • Severe form of childhood epilepsy characterised by tonic and atonic seizures and atypical absence seizures
  • Reduced life expectancy (depends on aetiology of spasms)

Poor prognosis

  • May have good initial response to treatment but little effect on long-term outcome
122
Q

What are CNS tumours?

A

Tumour of the brain or spinal cord

123
Q

Aetiology of CNS tumours?

A
  • Almost always primary in children (in contrast to adults)
  • Most are sporadic
  • May be associated with certain illnesses, e.g. astrocytomas in neurofibromatosis;
  • May be a genetic link with some; irradiation increases risk
124
Q

Name the types of CNS tumours

A
  • Astrocytoma (40%)
  • Medulloblastoma (20%)
  • Ependymoma (8%)
  • Brainstem glioma (6%)
  • Craniopharyngioma (4%)
  • Atypical teratoid/rhabdoid tumour
125
Q

Summarise Astrocytomas

A
  • varies from benign to highly malignant (glioblastoma multiforme)
126
Q

Summarise medulloblastomas

A
  • arises in the midline of the posterior fossa;
  • may seed through CNS via CSF → 20% have spinal mets at diagnosis
127
Q

Summarise Ependymomas

A

mostly in posterior fossa; behaves like medulloblastoma

128
Q

Summarise Brainstem gliomas

A
  • malignant tumours with very poor prognosis
129
Q

Summarise Craniopharyngiomas

A
  • developmental tumour arising from the squamous remnant of the Rathke pouch;
  • locally invasive;
  • grows slowly in the suprasellar region;
  • good survival but long-term visual impairment
130
Q

Summarise Atypical teratoid/rhabdoid tumours

A

rare aggressive tumour that most commonly occurs in young children

131
Q

Summarise the location where each type of CNS tumour arises

A
132
Q

Epidemiology of CNS tumours?

A

Most common solid tumour in children

Leading cause of childhood cancer deaths in UK

Most childhood brain tumours are infratentorial or midline

133
Q

What are the signs and symptoms of CNS tumours in all ages?

A
  • Depend on developmental age of the child and their ability to report symptoms
  • Often due to raised ICP but there may be focal neurological signs (depending on site of tumour)
  • All ages:
    • Persistent or recurrent vomiting
    • Problems with balance, coordination or walking
    • Behavioural change
    • Abnormal eye movements
    • Seizures
    • Abnormal head position à wry neck, head tilt, persistent stiff neck
    • Papilloedema (but can be a late sign and difficult to detect)
    • Lethargy
134
Q

What are the signs and symptoms of CNS tumours in infants?

A
  • Developmental delay/regression
  • Progressive increase in head circumference, separation of sutures, bulging fontanelle
135
Q

What are the signs and symptoms of CNS tumours in a child/adolescent?

A
  • Persistent or recurrent headache
  • Blurred or double vision
  • Deteriorating school performance
  • Delayed or arrested puberty, slow growth
136
Q

What are the signs and symptoms of CNS tumours specific to anatomical position?

A
  • Supratentorial – cortex: seizures, hemiplegia, focal neurological signs
  • Midline: bitemporal hemianopia, pituitary failure (growth failure, DI, weight gain)
  • Cerebellar and IVth ventricle: truncal ataxia, coordination difficulties, abnormal eye movements,
  • Brainstem: CN defects, pyramidal tract signs, cerebellar signs (ataxia), often no raised ICP
137
Q

What are the signs and symptoms of spinal tumours (primary or metastatic)?

A
  • Back pain
  • Peripheral weakness of arms/legs
  • Bladder/bowel dysfunction (depending on level of lesion)
138
Q

Ix for CNS tumours?

A
  • MRI:
    • For suspicion of brain tumour and persistent back pain in children
    • Urgent referral if CNS tumour is suspected (within 48hrs)
    • MRI is best (good resolution and no radiation) but sometimes CT is used (shorter, may not need sedation)
    • Magnetic resonance spectroscopy can be used to examine the biological activity of the tumour
  • LP:
    • Because some tumours can metastasise within the CSF à used for staging
139
Q

Mx for CNS tumours?

A

MDT approach

  • Including support groups, e.g. Brain Tumour Charity
  • Follow-up after treatment

Management is determined by tumour type, location and age of child

Surgery (usually 1st line):

  • Aimed at treating hydrocephalus, providing a tissue diagnosis and attempting maximum resection
  • Biopsy may be done before surgical resection is attempted
  • Anatomical position may mean surgery is not safe (e.g. tumours in brainstem and optic pathway)

Chemotherapy and radiotherapy:

  • Use depends on tumour type
  • Radiotherapy is given in low doses to very localised areas (to avoid damage to normal brain)
    • Not used in children <2yo (to avoid damage to developing tissue)
  • Chemotherapy regimens usually involve vincristine
140
Q

Complications and prognosis of CNS tumours?

A

Complications:

  • Intellectual decline → leads to educational problems
  • Endocrine problems (GH deficiency, thyroid hormone deficiency etc.)
  • Neurological disability (may be permanent)
  • Increased risk of 2nd brain tumour in 10-20yrs (due to irradiation)

Prognosis depends on type of tumour, but is improved by early detection and treatment

1% mortality for paediatric craniotomy

141
Q

What are tics?

A

Tics: brief, sudden repetitive movements or sounds with no useful function

142
Q

What is tic disorder?

A

Tic disorder: clinical spectrum that ranges from mild, sporadic tics to Tourette’s syndrome

143
Q

What is Tourette’s syndrome?

A

a chronic, idiopathic disorder characterised by both motor tics and vocal tics, often accompanied by psychiatric problems (such as OCD and ADHD)

144
Q

Aetiology of tic disorder?

A

Pathophysiology unknown; thought to be due to a disturbance in the basal ganglia → disinhibition of motor and limbic systems

  • May be association with viral beta-haemolytic Step infection → antibodies cross-react with neurons

Tics increase with stress, anxiety and excitement, and decrease with distraction/concentration on other things

  • More likely to occur when inactive (watching TV, long car journeys)
145
Q

Classification of tic disorder?

A

Tic disorders may be primary or secondary

  • Primary (most common): idiopathic or inherited
  • Secondary tics may be due to: infections (encephalitis, CJD, Sydenham’s chorea), substance abuse, drugs (e.g. lamotrigine), head trauma, neurodegenerative disease

Tic disorders are also classified into:

  • Provisional/transient tic disorders (lasting <1yr)
  • Persistent/chronic tic disorders (lasting >1yr)
  • Tourette’s syndrome
146
Q

RFs for tic disorder?

A
  • FHx,
  • male,
  • behavioural disorders (ADHD, OCD)
147
Q

Epidemiology of tic disorder?

A

Average age of onset is 8yo, peaks in intensity at 11yo, then improves

1 in 10 children develop a tic at some stage (most commonly around the face/head – blinking, frowning etc.)

Tourette’s prevalence 1%; M>F

  • Symptoms begin in early childhood, follow a waxing and waning course, early adolescence
148
Q

Signs and symptoms of tic disorder?

A
  • Inner urge or sensation, which is relieved by performing the tic
    • Can be suppressed for short periods of time (differentiates from focal seizures - can’t be controlled)
  • Tics:
    • Simple tics are brief movement involving a few muscle groups; complex tics are co-ordinated patterns of successive movement involving several muscle groups
    • Motor tics:
      • Simple: grimacing, blinking, kicking
      • Complex: head shaking, touching, echopraxia (imitating), copropraxia (obscene gestures)
    • Phonic tics:
      • Simple: sniffing, grunting, throat clearing, coughing
      • Complex: whistling, words/phrases, coprolalia (profanities), echolalia (repeating other’s)
149
Q

Signs and symptoms of Tourette syndrome?

A

Multiple motor and vocal tics (not necessarily concurrently)

  • Tics occur many times a day, every day for >1yr
  • Rage attacks: explosive, unpredictable outbursts followed by immediate remorse
150
Q

Ix for tic disorders?

A
  • Clinical diagnosis (usually no Ix needed, normal neuro exam etc.)
  • Investigate underlying cause if secondary tics are suspected
  • EEG if can’t differentiate between seizures and tics
  • Assess for concurrent behavioural problems (e.g. ADHD, OCD)
151
Q

Mx for tic disorders?

A

Supportive:

  • Reassure that tics are benign
  • Advise that tics may increase in stress, anxiety, excitement, and that course waxes and wanes
  • Notify school
  • Family and school should try to ignore tics

Behavioural therapies:

  • Comprehensive behavioural intervention for tics (CBIT), habit-reversal training, CBT
  • If tics interfere with daily life

Medical treatment:

  • Clonidine (a2-agonist) or atypical antipsychotic (aripiprazole or risperidone)
  • For severe tics interfering with daily life

Treat concurrent ADHD/OCD

152
Q

Complications and prognosis of tic disorders?

A

Complications:

  • Social withdrawal
  • Negative effects on education
  • Behavioural problems (ADHD, OCD), depression
  • Impact on QoL

Transient tic disorder resolves over a few months (but may recur when stressed)

Chronic tic disorder tends to improve in adulthood (again with recurrences)

Tourette’s syndrome is more persistent

153
Q

What is a migraine?

A

A recurrent headache that occurs with or without aura

In adults it lasts for 2-48hrs and is unilateral, but in children the diagnostic criteria are broader

154
Q

Aetiology of migraines?

A

Migraine without aura accounts for 90%; migraine with aura accounts for 10%

Pathophysiology is unknown

  • Thought to be due to cerebral neuronal hyperexcitability and cerebral blood reduction

Triggers:

  • Late nights or early rises
  • Stress
  • Cheese, chocolate, caffeine
  • Menstruation and OCP
155
Q

Name come uncommon types of migraine

A
  • Familial hemiplegic migraine: caused by a calcium channel defect, dominantly inherited
  • Sporadic hemiplegic migraine
  • Basilar-type migraine: vomiting with nystagmus and/or cerebellar signs
  • Periodic syndromes → often precursors of migraine:
    • Cyclical vomiting: recurrent episodes of vomiting; child is well inbetween
    • Abdominal migraine: episodic midline abdo pain
    • Benign paroxysmal vertigo of childhood: recurrent brief episodes of vertigo occurring without warning and resolving spontaneously
156
Q

Epidemiology of migraines?

A

Common → 1 in 20

Mean age of onset is 7-11yrs; incidence increases with age

  • Rarely diagnosed in children <2yrs because it is a symptom-based definition

Until puberty M:F is equal; after puberty F>M

157
Q

Signs and symptoms of migraines?

A
  • Gradual onset of headache (approx. 15mins)
  • May last for 1-72hrs (usually a few hrs)
  • Headache is usually bilateral but may be unilateral
    • Characteristically pulsatile and over the temporal or frontal area
  • Often accompanied by nausea, vomiting, abdo pain, photophobia and phonophobia
    • Children often lie down in a dark, quiet place
  • Aggravated by physical activity; relieved by sleep
  • Aura:
    • Precedes headache in migraine with aura, but aura can also occur without headache
    • Most commonly visual disturbances, e.g.
      • Negative phenomena: hemianopia, scotoma (small areas of visual loss)
      • Positive phenomena: fortification spectra (seeing zigzag lines)
    • May be sensory or motor disturbances
158
Q

Ix for migraines?

A
  • Clinical diagnosis
159
Q

Mx for migraines?

A

Rescue treatments:

  • Analgesia (1st line):
    • Paracetamol and NSAIDs, taken as soon as possible in attacks
    • Codeine phosphate if simple analgesics are ineffective (in ³12yo)
  • Anti-emetic, e.g. cyclizine:
    • In children who suffer nausea/vomiting
    • Take as soon as possible in attacks
  • Triptans (serotonin 5-HT1 agonists), e.g. sumatriptan (2nd line)
    • Take as soon as possible
    • Intranasal; only in ³12yo
    • Can add ibuprofen
  • Physical treatments e.g. cold compresses, warm pads, topical forehead balms may help some children

Prophylactic treatments:

  • Propranolol or pizotifen (1st line)
    • Don’t give propranolol in asthma
    • Pizotifen is a 5HT2 antagonist à can cause weight gain and sleepiness, less effective than propranolol
  • Topiramate (2nd line)
    • Na channel blocker
    • Only in ³12yo
  • Anticonvulsants (valproate, gabapentin, carbamazepine) or amitriptyline (3rd line)
  • Verapamil (CCB) or indometacin (NSAID) (4th line)

Psychosocial support:

  • Needed to ameliorate a particular stressor, e.g. bulling, anxiety
  • Relaxation, regular rest/play/sleep/water/food
  • Avoid triggers
160
Q

Complications and prognosis of migraines?

A

Complications:

  • Impaired QoL
  • Negative effect on schooling

Often life-long (25% stopped by 25yo; 50% stop by 50yo)

Attacks are often less frequent and severe in adulthood

161
Q

What are muscular dystrophies?

A

A group of inherited disorders with progressive muscle degeneration

162
Q

Aetiology of muscular dystrophies?

A

All muscular dystrophies are characterised by ongoing degeneration and re-generation of muscle fibres, leading to progressive muscle weakness (with variable distribution and severity)

163
Q

What are the 3 main types of muscular dystrophy?

A
  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • Myotonic dystrophy
164
Q

Summarise the aetiology of Duchenne muscular dystrophy

A
  • Most common phenotype; most rapidly progressive
  • X-linked recessive disorder (1/3 de novo mutations)
  • Due to a deletion of dystrophin gene at Xp21 position à <5% normal dystrophin levels
    • Dystrophin connects the cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell membrane
    • Deficiency causes Ca influx into myocytes à excess free-radicals and breakdown of calcium-calmodulin complex à myofibre necrosis
    • Degeneration is faster than re-generation à muscle loss and replacement by adipose cells and connective tissue
  • The absence of dystrophin also causes effects in other cells in the body:
    • Brain cells: lower IQ, learning difficulties, autistic spectrum disorders
    • Smooth muscle cells: cardiomyopathy, prolonged intestinal transit times
165
Q

Summarise the aetiology of Becker muscular dystrophy

A
  • Allelic with Duchenne (caused by different mutations in the same gene) – X-linked recessive
  • Some functional dystrophin is produced (30-80% of normal) à not as severe
  • RFs for Duchenne and Becker are FHx and male gender
166
Q

Summarise the aetiology of Myotonic dystrophy

A
  • Autosomal dominant inheritance
  • Caused by a nucleotide triplet repeat expansion – CTG in the DMPK gene on ch 19
    • Clinical severity increases as the number of nucleotide triplet repeats exceeds 40 à anticipation through generations
  • Myotonia is delayed relaxation after sustained muscle contraction
167
Q

Epidemiology of the 3 main muscular dystrophies?

A

Duchenne: 1 in 3000 live male births; very rare in girls

Becker: 1 in 25,000 live male infants; very rare in girls

Myotonic dystrophy: 1 in 10,000 live births

168
Q

Signs and symptoms of Duchenne muscular dystrophy?

A
  • Child appears healthy at birth; onset of symptoms at 1-6yo
  • Delayed motor milestones (average age for walking is 18m)
  • Waddling gait, mount stairs one by one, clumsier than peers, falls
  • ‘Climbing up body’ to stand from a seated position (Gower’s sign)
  • Pseudohypertrophy of the calves (due to replacement of muscle fibres by fat and fibrous tissue)
  • Nocturnal hypoxia and language delay (due to weakness of intercostal/facial muscles)
  • Decreased muscle tone and reflexes

By 10-14yo patients are usually wheelchair-bound

169
Q

Signs and symptoms of Becker muscular dystrophy?

A
  • Similar features to Duchenne but milder and slower progression
  • Symptoms appear around 10yo

Wheelchair-bound by late 20s

170
Q

Signs and symptoms of myotonic dystrophy?

A
  • Newborns:
    • hypotonia,
    • feeding difficulties,
    • respiratory difficulties,
    • talipes at birth,
    • reduced foetal movements in pregnancy
  • Older children:
    • myopathic facial appearance (expressionless, ptosis),
    • myotonia,
    • learning difficulties
171
Q

Ix for Duchenne and Becker muscular dystrophy?

A
  • Serum CK: markedly elevated
  • Genetic testing
  • EMG: shows myopathic cause rather than neuropathic
    • Fast firing, short duration, polyphasic, decreased amplitude motor units
  • Muscle biopsy: absent/reduced dystrophin
  • Lung function: decreased vital capacity
172
Q

Ix for Myotonic dystrophy?

A

If newborn presents with symptoms → examine the mother for myotonia

  • Genetic testing
  • EMG: myopathic cause (fast firing etc.)
  • Muscle biopsy: some specific glycoproteins are defective/absent
  • Lung function: decreased vital capacity
173
Q

What are the 3 stages of Mx for muscular dystrophies?

A
  • Stage 1 (ambulatory): goals are psychological support, prevention of contractures, preservation of muscle strength with glucocorticoids
  • Stage 2 (non-ambulant): goals are maintenance of optimal nutrition and ADLs, prevention of scoliosis
  • Stage 3 (ventilator-supported): goals are inspiratory and expiratory muscle rest and support
174
Q

Mx for Duchenne and Becker muscular dystrophies?

A
  • MDT approach → paediatricians, SALT, physio, GP, specialist nurses, occupational therapists
    • Review periodically at a specialist regional centre
    • Psychological support
    • Mainstream education where possible
    • Genetic counselling
    • Mobility aids and wheelchairs when needed
  • Physiotherapy
    • Prevent contractures with the use of splints
    • Strengthening exercises
  • Corticosteroids (prednisolone)
    • Given to preserve muscle strength, improve mobility and present scoliosis
    • But SEs
  • Prevent cardiomyopathy
    • Beta-blockers and ACEi when LVEF decreases below 40-50%
  • Prophylactic antibiotics; pneumococcal and influenza vaccines (when lung function falls)
  • Surgery:
    • Tendoachilles lengthening and scoliosis surgery if needed
  • Ventilation (over-night and then continuous when needed)
  • Nutritional support
  • Ataluren
    • Exon skipping drug → may allow bypass of the mutation and small amount of dystrophin production
    • Only available for nonsense (stop) mutation (10-15%)
175
Q

Complications and prognosis of muscular dystrophies?

A

Complications:

  • Loss of mobility
  • Limb contractures
  • Scoliosis
  • Respiratory failure
  • Dilated cardiomyopathy (>15yo)
  • SEs of steroids
  • Malnutrition
  • Learning difficulties

Prognosis:

  • Duchenne: life-expectancy late 20s (death due to resp failure or cardiomyopathy)
  • Becker: life-expectancy middle-old age
  • Myotonic: death due to cardiac arrhythmia, T2DM, early-onset dementia; usually before 50yo
176
Q

What are the neurocutaneous syndromes?

A

These include:

  • neurofibromatosis,
  • tuberous sclerosis
  • Sturge-Weber syndrome

The nervous system and skin have a common ectodermal origin

→ embryological disruption causes syndromes involving abnormalities to both systems

→ these are the neurocutaneous syndromes

177
Q

What is neurofibromatosis?

A

A genetic disorder causing lesions in the skin, nervous system and skeleton

178
Q

Types of neurofibromatosis and their aetiologies?

A

There are 2 types: neurofibromatosis 1 (NF-1) and neurofibromatosis 2 (NF-2)

NF-1 (aka von Recklinghausen disease):

  • Autosomal dominant, highly-penetrant condition with variable expression; 50% arise de-novo
  • Caused by a mutation in the neurofibromin-1 (NF1) gene, situated at ch 17q11.2
    • Arises in 50% as a de novo mutation

NF-2:

  • Autosomal dominant; 50% arise de-novo
  • Caused by mutation in NF2 gene at ch 22q12.2
179
Q

Epidemiology of neurofibromatosis?

A

NF-1: 1 in 3000 live births

NF-2: 1 in 25,000 live births (less common)

180
Q

Signs and symptoms of neurofibromatosis type 1?

A

Symptoms usually appear in childhood or adolescence

  • For diagnosis, 2 or more of the following:
    • 6 or more café-au-lait spots >5mm in size before puberty or >15mm in size after puberty
      • Usually the first feature
    • More than 1 neurofibroma (an unsightly nodular overgrowth of any nerve)
      • Neurofibromas appear in the course of any peripheral nerve, including cranial nerves
      • They may look unsightly, or cause neurological signs secondary to nerve compression
        • May cause visual or auditory impairment if there is compression of CN II or VIII
      • Can be itchy
    • Axillary freckling
    • Optic glioma → may cause visual impairment
    • One Lisch node (a harmatoma of the iris seen on slit-lamp examination)
      • Frequency increases with age (95% in those >10yo)
    • Bony lesions from sphenoid dysplasia → can cause eye protrusion
    • 1st degree relative with NF-1
  • Cutaneous features become more evident after puberty but usually appear throughout childhood
  • Wide spectrum from mild to severe → skin may be completely covered with neurofibromas if severe
  • Megaencephaly with learning difficulties and epilepsy are sometimes seen
181
Q

Signs and symptoms of neurofibromatosis type 2?

A

Usually presents in adolescence (lightly later than NF-1)

  • Multiple schwannomas, meningiomas and ependymomas
  • The predominant feature is bilateral acoustic neuromas
    • Presents with deafness
    • Sometimes causes a cerebellopontine angle syndrome with CN VII paralysis and cerebellar ataxia
  • Juvenile cataracts (posterior subcapsular cataracts) may precede CNS symptoms

Cutaneous neurofibromas and café-au-lait spots are not usually a feature

182
Q

Ix for neurofibromatosis?

A
  • Clinical diagnosis
  • Slit lamp examination (for Lisch nodules in NF-1)
  • MRI/CT/PET
    • To assess presence and growth of lesions
  • Biopsy of café-au-lait spots/neurofibromas
    • If diagnostic uncertainty (not routinely done)
  • Genetic testing to confirm diagnosis (not routinely done)
183
Q

Mx for neurofibromatosis?

A

Management focusses on monitoring progress and intervening where necessary

  • Annual assessment, education about NF and its complications
  • Height and weight
  • Review visual symptoms à annual visual acuity and fundoscopy
  • Check skin for new neurofibromas and progression of existing ones
    • Can remove cutaneous neurofibromas if they catch on clothing/cause other problems
  • Hearing tests
  • Monitor for HTN
  • Ask about neurodevelopment à note any learning disabilities and take early action
  • Treat complications
184
Q

Complications and prognosis of neurofibromatosis?

A

Complications:

  • MEN syndromes
  • Phaeochromocytoma
  • Pulmonary hypertension
  • Renal artery stenosis with HTN
  • Rarely, the benign tumours undergo malignant change
    • Increased risk of brain tumours, leukaemia and other malignancies of neural crest origin
      • Brain tumours are more common in NF-2
      • Malignant peripheral nerve sheath tumours in NF-1 (10%)

Most people with NF-1 have only cutaneous signs (but very variable); slightly reduced life expectancy

NF-2 has worse prognosis

185
Q

What is tuberous sclerosis?

A

A neurocutaneous disorder characterised by cellular hyperplasia, tissue dysplasia and multiple organ harmatomas

186
Q

Aetiology of tuberous sclerosis?

A

Autosomal dominant with variable penetrance

  • Caused by mutation in TSC1 (ch9) or TSC2 gene (ch16)
    • 89-90% patients have TSC2 mutations
  • Up to 70% mutations arise de novo

The only RF is FHx

187
Q

Signs and symptoms of tuberous sclerosis?

A
  • Cutaneous features:
    • Depigmented ‘ash leaf’ shaped patches
      • Fluoresce under UV (Wood’s) light
    • Roughened skin (shagreen patches), usually over the lumbar spine
    • Angiofibromata (‘adenoma sebaceum’)
      • Butterfly distribution over the bridge of the nose and cheeks
      • Unusual before 3yo
  • Neurological features (in 50%):
    • Infantile spasms, epilepsy (often focal)
    • Developmental delay, intellectual disability (often with autism)
  • Other features:
    • Fibromata beneath nails (subungual fibromata)
    • Dense white areas on the retina (phakomata) from local degeneration
    • Rhabdomyomata of the heart
    • Renal angiomyolipomas, polycystic kidneys
    • Cysts in the lungs
    • Subependymal nodules and cortical tubers in the brain
      • May be asymptomatic
      • The subependymal nodules may enlarge and form subependymal giant cell astrocytomas à block the flow of CSF à hydrocephalus
188
Q

Ix for tuberous sclerosis?

A
  • Clinical diagnosis
    • Ix are used to confirm the diagnosis and determine disease extent and organ involvement
  • Neurodevelopmental testing
    • At diagnosis, school entry and then as indicated
  • BP, U&Es, Hb, urine dip
    • For renal complications
  • EEG (if seizures)
  • ECG
    • At diagnosis, every 3-5yrs in asymptomatic patients, and as indicated
    • May show arrhythmias, WPW
  • Echo
    • May show rhabdomyomas
  • Renal USS/CT/MRI
    • At diagnosis and every 1-3yrs
    • May show angiomyolipomas or polycystic kidneys
  • CT/MRI
    • Performed at diagnosis and every 1-3yrs
    • To detect the calcified subependymal nodules and tubers
  • Genetic testing
    • To confirm diagnosis if uncertainty
189
Q

Mx for tuberous sclerosis?

A

MDT approach

  • Attention to schooling and behavioural disorders
  • Support for family
  • Annual follow-up (see Ix)

Skin lesions:

  • Hypomelanotic macules and shagreen patches do not need treatment
  • Facial angiofibromas tend to increase in size/number over time à laser therapy

mTOR inhibitors (everolimus)

  • New drug, seems promising

Management of epilepsy, antihypertensives in renal disease etc etc.

190
Q

Complications and prognosis of tuberous sclerosis?

A

Complications:

  • Chronic renal failure
  • Chronic respiratory failure
  • Learning difficulties and autistic features
  • Social, occupational and forensic problems; anxiety and depression
  • Sudden death (due to epilepsy or cardiac arrhythmia)

There is a wide spectrum of severity, but many people only have cutaneous features

Epilepsy has the biggest impact on life

191
Q

What is Sturge-Weber syndrome?

A

A neurocutaneous syndrome marked by a distinctive port wine stain in the trigeminal nerve distribution

192
Q

Aetiology of Sturge-Weber syndrome?

A

Caused by a sporadic (i.e. not inherited) mutation in the GNAQ gene in embryological development

  • Leads to a malformation of vascular development
  • Neurological deterioration is thought to be due to impaired blood flow to the brain, worsened by seizures

Ophthalmic division of trigeminal nerve is always involved

Severity is determined by the developmental time at which the mutation occurred

193
Q

Epidemiology of Sturge-Weber syndrome?

A

Rare à 1 in 50,000 live births

194
Q

Signs and symptoms of Sturge-Weber syndrome?

A
  • Port wine stain (haemangiomatous facial lesion) in the distribution of the trigeminal nerve
    • NB not all infants with port wine stain have Sturge-Weber syndrome
  • Similar lesion intracranially (ipsilateral leptomeningeal angioma)
  • Glaucoma (50%)
  • In the most severe form:
    • Epilepsy
    • Intellectual disability

Contralateral hemiplegia

195
Q

Ix for Sturge-Weber syndrome?

A

Diagnosis is made by presence of port wine stain, associated with either brain or eye involvement

  • MRI
  • MRA (magnetic resonance angiogram)
    • To view blood vessels
  • Transcranial Doppler USS
    • Used in early assessment of vascular malformation
  • EEG (if seizures)
196
Q

Mx for Sturge-Weber syndrome?

A

Cosmetic camouflage creams and laser treatment

  • For port wine stain

Treat seizures

  • Antiepileptics
  • Hemispherotomy (in children presenting with intractable epilepsy in infancy)
197
Q

Complications and prognosis of Sturge-Weber syndrome?

A

Complications:

  • Seizures
  • Learning disability (due to abnormal vascular supply and seizures)
  • Ipsilateral glaucoma (50%)

Wide spectrum of severities

For children who are less severely affected, deterioration is unusual after 5yo

3 - Y5 Paeds (13 decks)

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