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1. Paediatrics > Neurology > Flashcards

Neurology Flashcards

1
Q

Epilepsy Syndromes:

Childhood Absence Seizures

A 
3 Hx spike and wave (bilateral, symmetrical)
5 - 10 yo, often grow out of it
5 - 20 seconds
**Reproduced by hyperventilation**
Often FH
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2
Q

Non-Epileptic Funny Turns

Anoxic/Syncopal causes

A
  • blue breath-holding
  • reflex anoxic syncope (pallid syncope)
  • vasovagal
  • cardiogenic (long QT)
  • obstructive - suffociation, Sandifer’s syndrome (reflux + neck twisting)
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3
Q

Non-Epileptic Funny Turns

Movements without seizures

A

Rigors
Jitters
Paroxysmal dyskinesias
Alternating hemiplegia of infancy

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4
Q

Non-Epileptic Funny Turns

Pain and headache, migraine equivalents

A

BPPV
Cyclical vomiting
Paroxysmal torticollis (head twisted with neck spasms, pain)

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5
Q

Non-Epileptic Funny Turns

Behavioural and sleep

A 
Day dreaming
Hyperventilation
Pseudoseizures
Gratification
Night terrors
Sleep myoclonus
Narcolepsy/cataplexy
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6
Q

Atonic seizures

A

Abrupt loss of muscle tone

    • head nod
    • fall
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7
Q

Myoclonic seizures

A

single brief jerks

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8
Q

Infantile spasms

A

Salaam attacks

    • brief forceful extension or flexion of trunk
    • may include elevation of arms or legs

Often in clusters on waking
Upset the child
3 - 12 months

May assoc with brain injury, infection or brain malformation
25% idiopathic = better prognosis
Normal development = better prognosis

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9
Q

Epilepsy Syndromes:

Benign Rolandic Epilepsy

A

3 - 13 years (peak age 9)
Normal intelligence
Nocturnal unilateral face paralysis with salivation, loss of speech
1 - 2 mins (may generalise)

EEG: high voltage diphasic centro-temporal spikes, activated by drowsiness, findings not related to symptoms, findings may occur in unaffected siblings

Treatment not needed
Resolve at puberty

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10
Q

Epilepsy Syndromes:

Juvenile Myoclonic Epilepsy

A

8 - 26 years
Normal intelligence
Present with T/C or absences when sleep deprived BUT history reveals early morning brief arm jerks

EEG: polyspike and wave complexes, generalised 3Hz discharges, photosensitivity

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11
Q

Epilepsy Syndromes:

West’s Syndrome

A
  1. infantile spasms
  2. developmental regression
  3. EEG = high voltage chaotic background with asynchronous spike/polyspike discharges and decremental (voltage drop) during seizures
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12
Q

Seizure Management

A

Carbemazepine for TC

Lamotrigine for absences

Steroids/vigabatrin for infantile spasms (NB. visual field defects with vigabatrin)

Valproate for other types.

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13
Q

Neurofibromatosis Type 1:

Typical Cases

A

1 in 3000 (50% are new mutations)
17 q 11.2 (tumour supressor gene mutation)

> 6 Cafe au lait macules - 5mm for kids, 15mm for teens
Axillary (perineal) freckling
2 Lisch nodules in iris (pigmented nodules on slit lamp)
2 Subcutaneous nodular tumours over peripheral nerves - increasingly occur with age
Optic gliomas

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14
Q

Neurofibromatosis Type 1:

Complications

A 
Can get bony deformities
Increased malignancy risk in general
Mild LD
Aqueduct stenosis --> hydrocephalus
Renal artery stenosis --> systemic hypertension
Vascular accidents
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15
Q

Tuberous Sclerosis:

Typical Cases

A

Dominant inheritance (70% spontaneous mutation)
1 in 20,000
9 q and 16 p - ??tumour suppressor genes

Ash-leaf macules - depigmented “hypomelanotic”, best seen with Wood’s lamp
Shagreen patch - roughened, over lumbar spine = connective tissue naevus
Facial angiofibromas
Periungual fibromas (teens)

80% epilepsy under 5y
50% learning disabilty, often assoc with infantile spasms and multiple cerebral tumours

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16
Q

Tuberous Sclerosis: Complications

A

Cardiac rhabdomyoma (foetal hydrops, foetal heart failure)
Polycystic kidneys
Renal and hepatic angiomyolipomas
Retinal astrocytomas

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17
Q

Red flags for space occupying lesion

A

Worse lying down (other headaches improve)
Morning vomiting
Personality change/school performance change
Papilloedema (possible in IIH)
Headache which wakes from sleep
Change in headache intensity or frequency

Focal neuro

  • visual fields = pituitary, craniopharyngioma
  • cerebellar signs = posterior fossa
  • cranial nerves = brainstem

Cranial bruit = AV malformation

18
Q

Diastematomyelia

A

Congenital splitting of spinal cord, usually at upper lumbar levels, longitudinally
Neural tube defect
Can cause bladder or lower limb defect as child ages

19
Q

Encephalocele

A

= cranium bifidum
Midline skull defect (front or back) through which brain + meninges bulge

+/- cerebral malformations

? surgical correction

20
Q

Meningocele

A

Midline defect over spine
Protrusion of meninges + CSF ONLY

Surgical repair

21
Q

Meningomyelocele

A

Midline defect over spine
Protrusion of spinal cord as well as meninges
Thus leg paralysis and sensory loss, bladder and bowel dysfunction

22
Q

(Arnold) Chiari malformation

A

Downward displacement or cerebellar tonsils through foramen magnum

  • -> obstructive hydrocephalus
  • -> +/- syringomelia

Headaches (worse with bending/sneezing), weakness, dysphagia, vomiting, dizziness, tinnitus, poor coordination, upper limb paraesthesia, papilloedema, dysautonomia

4 types, progressively more malformed brains. III and IV have encephalocele/spina bifida. Type IV incompatible with life.

Decompressive surgery - removing lamina of upper vertebrae +/- shunt

23
Q

Progressive multifocal leukoencephalopathy (PML)

A

JC Papovavirus
Progressively infects oligodendroglial cells
Confusion + seizures –> death

24
Q

Counselling re seizures and driving

A

Any seizures = stop driving and inform DVLA and insurers

If seizure-free for 1 year (with or without meds) can drive again

If seizures only when asleep for 3 years, can drive again

If re-starting need to inform DVLA and insurers

25
Q

Spinal Muscular Atrophy

A

autosomal recessive - SMN1 defect, 5q11 - 13
SMN necessary for survival of motor neurons
progressive muscle wasting and mobility impairment, proximal muscles and lung muscles first
commonest genetic cause of infant death

1 in ten thousand (1 in fifty are carriers)

hypotonia with absent tendon reflexes
EMG fibrillation and denervation
Muscle biopsy = group atrophy
CK normal or high

26
Q

Spinal Muscular Atrophy 1 = Werdnig-Hoffman

A

Neonatal onset incl resp failure

Life expectancy 2 years

27
Q

Spinal Muscular Atrophy 2 = Dubowitz

A

Onset 6 - 18 months
Never walk but can sit
Live to adulthood

28
Q

Spinal Muscular Atrophy 3 = Kugelberg-Welander

A

Onset over 18 months
Walk without support although this may be lost in time
Normal life expectancy

29
Q

Spinal Muscular Atrophy 4

A

Adult onset
Gradual weakening from 30s onwards, mainly proximal muscles, may need wheelchair
Normal life expectancy

30
Q

Sturge-Weber Syndrome

A

Sporadic disorder

1. facial angiomatous naevus (port-wine stain)
AND
2. venous angioma of leptomeninges
OR
3. glaucoma

8% of children with a facial port wine stain have SWS
25% if in opthalmic trigeminal region
33% if bilateral

31
Q

Sturge-Weber Syndrome: Complications

A

75% seizures - often

32
Q

Status Epilepticus

A

> 30 mins OR repeated without recovery
5% mortality
20% morbidity

rule out: hypo, electrolyte imbalance, drugs, infection, trauma

33
Q

Status Epilepticus: Complications

A 
HIE, cerebral oedema, raised ICP, hippocampal sclerosis
Acute resp/cardiac failure
Aspiration, LRTI, pulmonary oedema
Cardiac arrythmia
Hyper/hypotension
Metabolic hypos, hypers, dehydration
Multi-organ failure
DIC
34
Q

Causes of raised ICP

A 
Lump - tumour, abscess
Obstruction - hydrocephalus, venous thrombosis
Cerebral oedema
Intracranial bleed
Idiopathic intracranial hypertension
Hypercapnoea
35
Q

Friedreich’s Ataxia

A

1 in fifty thousand
50% of all heriditary ataxias are F’s
Homozygous for expasion of GAA repeats on Frataxin gene (chr 9)
Affects dorsal columns (sensory light touch/vibration) and motor pathways
Onset at puberty - wheelchair by 15y

Ataxia, absent reflexes, upgoing plantars, loss of proprioception, pes cavus

Scoliosis, hypertrophic cardiomyopathy, abnormal saccades and pursuit, optic atrophy, deafness, diabetes

36
Q

Ataxia Telangectasia

A

Autosomal recessive - chr 11q22 - 23, ATM protein (DNA repair)
Progressive neurodegeneration + immunodeficiency + risk of malignancy

Truncal ataxia

37
Q

Progressive Atrophy of Cerebellum

A 
Pontocerebellar atrophy
Carbohydrate-deficient glycoprotein syndrome
Spinocerebellar degeneration
Tay-Sachs
Menke's disease
Rett's syndrome
PKU
38
Q

Muscular Dystrophy

A

X-linked recessive
Xp21 dystrophin - anchors cytoskeleton of muscle cells

PC - delayed walking, proximal weakness, Gower’s sign, waddling
Lumbar lordosis, toe walking, pseudohypertrophy of calves, buttocks, delts

Serum CK v elevated under 5y then declines as muscle is lost

39
Q

Duchenne Muscular Dystrophy

A
40
Q

Becker’s Muscular Dystrophy

A

Gradually increasing proximal muscle weakness
Dystrophin problem less severe than DMD

Later onset of weakness and survive to adulthood

41
Q

Charcot-Marie-Tooth disease

Hereditary motor-sensory neuropathy type 1

A

peroneal muscular atrophy - upside down champagne bottle, weakness of dorsiflexion, foot drop
gait disturbance
loss of proprioception and vibration sense

nerve conduction studies
sural nerve biopsy = onion bulb formations

1. Paediatrics (13 decks)

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