Paediatric Neurology Flashcards
what’s the prognosis of a child presenting with febrile convulsions of the first time?
will they have another?
will they have epilepsy?
1/3 will have another febrile convulsion
increases risk of having epilepsy but defo doesn’t mean they will develop it. there is around 6 fold increase of epilepsy - base line is 1% so 6% is the risk of having epilepsy
in what neurological condition might you see a gastrotomy?
CP - cerebral palsy
history:
- 2 year old, normally well
- runny nose for 2 days and temps >39
- 5 minute episode initially stiff, then jerking of 4 limbs
- now sleepy but observations normal
- red bulging tympanic membrane
febrile convulsions secondary to right otitis media
name some symptoms of neurological disturbance in paediatrics
- delayed development - failure to acquire skills, loss of skills
- seizures
- asymmetrical limb use - early handedness (should not show before 2 years)
- problems walking - frequent falls, unsteadiness
- headaches/vomiting
- behavioural problems
what are febrile convulsions?
who gets them?
commonest seizure disorder of childhood, typically generalised and short in duration and are associated with a fever which may be due to a UTI, URTI, otitis media etc (but not CNS infection although you want to exclude meningitis)
children 6 months - 5 years normally get them, over 7 unlikely to get them and under 3 months is not the diagnosis
what is the initial management if the child has a febrile seizure infront of you?
- Assess ABC, give oxygen and call for help
- Give PR paracetamol and diclofenac to treat fever
management of febrile seizures
- always remember ABC (+DEFG) don’t ever forget glucose
- symptomatic relief of high fever with anti pyretic
- find a focus for the fever and treat with abx if indicated
- educate parents about prognosis and outcomes in febrile seizures
what is epilepsy?
tendency towards recurrence of seizures which are unprovoked (therefore not febrile convulsions)
name two other ‘seizure’ conditions other than febrile seizures which happen in children which are NOT epilepsy?
breath holding attacks
reflex anoxic seizures
describe a breath holding attack?
who has them?
pain/anger followed by brief crying, child takes deep breath and stops breathing, turns blue and limbs extend, then limp with LOC.
may have some convulsive jerks but there is no post-ictal phase
6 month to 2 year age group
what is another word for reflex anoxic seizures?
what can trigger them?
and what is the physiology of them?
Whats the different between RAS and a breath holding attack
equivalent to the faint in the older child
triggers are: minor injury, cold food, fright, fever
vagal activation causes bradycardia (vasovagal activation)
It isn’t always possible to tell the difference between a blue breath-holding spell and a reflex anoxic seizure. However, in most cases the advice will be the same: reassurance and treatment for iron deficiency.
what is an epileptic seizure and what is epilepsy?
epileptic seizure = transient clinical event where there is abnormal and excessive electrical discharge from synchronised neurones
epilepsy - the tendency towards recurrent epileptic seizures (2 or more epileptic seizures)
whats the differences between generalised and focal seizures? and give some examples of both
generalised = associated with LOC/impairment of consciousness
- tonic clonic, absence, myoclonic, atonic (drop attacks)
focal = tends to not have impairment of consciousness - temporal, frontal or parietal lobe seizures
what is the EEG abnormality seen in absence epilepsy of childhood?
3hz spike and wave
what would you treat a child with that was having absence epilepsy
sodium valproate
describe an absence seizure
can you induce these?
transient loss of consciousness often with open, blinking eyes or twitching mouth that last for under 30 seconds.
teachers may say they are episodes of ‘day dreaming’ at school
will not respond to voice during them
will not remember anything after them
can induce them with hypoventilation - slow, deep breaths
describe infantile spasms
infantile spasms happen in the first year of life, typically between 3 and 8 months of age.
To begin with, the spasms are usually infrequent and do not happen in clusters. Therefore it is quite common for the diagnosis to be made quite late.
The parents may at first be told their infant has colic because of the pattern of the attacks and the cry that a child gives during or after an attack.
The typical movement in a spasm is of a sudden flexion (bending forward) in a tonic (stiffening) fashion of the body, arms and legs. Sometimes, the episodes are different, with the arms and legs being flung outwards (these are called ‘extensor’ spasms). Usually, they affect both sides of the body equally.
Typically, each episode lasts just 1 or 2 seconds after which there is a pause for between five and ten seconds which is then followed by a further spasm.
usual for infantile spasms to happen in ‘runs’ or ‘clusters’. There may be 5 or up to 20 or more spasms in a ‘cluster’.
what triad do you see in west’s syndrome and what is the prognosis?
what condition is it associated with?
- infantile spasms in the first year of life
- developmental delay
- hypsarrhythmia on EEG - chaotic pattern
prognosis is poor - learning difficulties, likely to go on to have other seizure types - (lennox gaustaut)
associated with tuberosclerosis (multi system but also neurocutaneous disorder, so check skin)
what do you treat infantile spasms with?
but what is the problem with the second medication?
steroids or vigabatrin
adverse drug reaction of: visual field defects with vigabatrin
what age should a child be able to do the following?
walk
speak in 2 word sentences
ride a tricycle
18 months
2 years
3 years
what questions would you ask to assess each domain in a developmental exam?
gross motor - will they keep their head up?can they roll? can they crawl? can they sit up without support? can they pull themselves up? can they walk? can they jump, can they hop?
fine motor (linked to vision also) - do they make eye contact, will they follow things with thier eyes, can they hold onto big things, can they hold onto little things? what can they draw?
speech and hearing: can they laugh? do they babble? do they have any words? can they say any sentences?
social - do they smile? will they wave goodbye? will they play with other children? toileting? can they feed themselves?
what is the most likely diagnosis in a 2 year old with delayed developmental milestones, one sided hemiplegia (increased tone and increased reflexes) and a past medical history of prematurity and requiring resus and ventilation at birth?
cerebral palsy secondary to prematurity and birth asphyxia
what red flags are there in developmental milestones?
6 weeks - not smiling, no visual fixation
1 year - not babbling, unable to sit unsupported
18 months - unable to walk, has a hand preference
2.5 years - no sentences
what are the differentials for hypotonia in children?
- down syndrome
- metabolic disorder
- hypoglycaemia
- sepsis
- myotonic dystrophy
- birth trauma
what skeletal abnormalities are seen in CP?
- fixed flexion deformities
- scoliosis
- dislocations
- spasticity
- contractures
define CP?
umbrella term describing non - progressive brain lesions occuring any time between conception and 3 years of age that manifest as postural or motor abnormalities
categorise the causes of cerebral palsy
name some causes under each
which category is the most commonly responsible
fetal
- structural abnormalities
- maternal hypothyroidism
- chorioamionitis
peri-natal (most common)
- premature delivery
- birth hypoxia/asphyxia
- congenital infections
- severe jaundice - KERNICTERUS (bilirubin build up in the brain)
inborn errors
- genetic syndromes etc
infancy
- traumatic brain injury
- meningitis
unknown
how do you classify cerebral palsy?
and what is the most common classification?
- predominant type of tone or movement affected - increased tone (spastic) or dyskinetic (involuntary momvements)
- distribution of affected limbs - hemiplegia, diplegia, quadriplegia
- associated functional limitations - gross motor functional classification system (GMFCs 1-5) or manual ability classification system (MACS 1-5)
5 = worst
spastic hemiplegia
how do you mange CP?
with an MDT
paediatrician
physio - prevent contractures
speech and language therapists
dietician - problems with feeding and swallowing
education/school - SPEN school
orthopaedic surgeons - for severe contractures
what complications are there in CP?
muscle contractures and spasms
swallowing and feeding difficulties - require percutaneous endoscopic gastrostomy
scoliosis, hip dislocation
epilepsy
BUT many CP children are cognitively intact so assume this
what is duchenne muscular dystrophy?
commonest disabling neuromuscular disorder or childhood that is X linked recessive but 1/3 of cases are de novo mutations
what is the pathophysiology of duchenne muscular dystrophy?
Xp21 site on short arm of X chromosome codes for dystrophin which maintains the integrity of the muscle cell wall
mutation = no dystrophin
without dystrophin, there is progressive muscle cell damage
how does duchenne muscular dystrophy present
normally in boys 4-5 yo
gross motor delay with ‘clumsiness’, waddling gait, and proximal myopathy
reduced or absent reflexes (though ankle jerk is often preserved)
typically ‘walk up their legs’ with hands in order to stand - GOWERS SIGN
calf pseudo-hypertrophy - muscle replaced by fat and fibrous tissue
what investigations are done in suspected DMD, and what would you find for positive results?
creatinine phosphokinase - will be very high!
genetic studies - mutation on Xp21
EMG - myopathy pattern
muscle biopsy shows absent dystrophin on immunohistochem
what are the complications/prognosis of DMD?
need for walking frame (8-10) and need for wheelchair (10-14)
associated cardiomyopathy
respiratory problems
scoliosis
cognitive impairment
death from cardiac/resp failure in early 20s
