Paediatric Neurology Flashcards
In which population do febrile convulsions typically occur?
- child with febrile illness (temp >38) e.g. viral infection, otitis media, tonsillitis
- age 6 mths to 5 yrs
- +ve FHx
Describe the classification of febrile convulsions
- simple febrile seizure
- generalised tonic-clonic
- lasts <15 mins
- does not recur within 24 hrs or within same febrile illness - complex febrile seizure - have 1 or more of following:
- focal features at onset or during seizure
- lasts >15 mins
- recurrence within same febrile illness - febrile status epilepticus
- lasts >30 mins
How would you decide whether or not to admit a child with febrile seizure?
- Admit and review within 2 hrs if:
- <18 mths
- complex seizure (more likely to recur or to be due to intracranial infection)
- child has had Abx (may mask Sx of meningitis)
- no focus of infection is found - Admit and treat as meningitis if drowsy before seizure or GCS <15 1 hr post-seizure, neck stiffness, non-blanching petechial rash, bulging fontanelle.
- Discharge other children if child is well and parents are happy they can manage child.
What is the prognosis following a febrile seizure (risk of recurrence, risk of epilepsy)?
- 30-40% risk of recurrence (esp. if younger child, shorter duration of illness and lower temp.)
- 2-7% risk of developing epilepsy (esp. if complicated febrile seizure)
- simple febrile seizures do not cause brain damage and no increased risk of death
Describe the typical triad of features seen in West’s syndrome. What is the prognosis?
Presents in infants (3-12 mths):
- Infantile spasms: short tonic contraction of trunk with upward elevation of arms (tend to occur in clusters with a lapse of 5-30 secs between)
- Developmental delay or regression
- Hypsarrhythmia on EEG
Most children go on to develop other types of seizures in later childhood, inc. LGS
Which medications are used in the treatment of infantile spasms?
- 1st line: PREDNISOLONE PO for approx. 1 month
- 2nd line: VIGABATRIN PO
Describe the features of Lennox-Gastaut syndrome.
Presents in children 1-3 years:
- Tonic seizures with trunk flexion (often evolving out of infantile spasms)
- Atonic seizures, myoclonic jerks and atypical absences
- Invariably there is developmental delay once seizures are established.
- Rarely responds to drugs.
Describe the features of Benign Rolandic epilepsy.
Occurs in children 4-10 years, more common in boys.
- Nocturnal sensorimotor seizures - facial twitching + aphasia. Then spreads down 1 side and may cause GTC seizure.
A child presents with ‘starring episodes’ occurring several times a day. What is your differential diagnosis?
- Non-epileptic
- daydreaming
- childhood preoccupation
- iron deficiency anaemia
- thyroid disorders - Epileptic episodes
- absence seizures
- complex partial seizures
Describe the typical features of absence seizures.
- situation independent, unpredictable and can disrupt activities
- duration <20 secs with abrupt onset + termination
- usually about 30 episodes/day
- flickering of eyelids
- absent aura and absent post-ictal drowsiness
which investigations would you perform in a child presenting with starring episodes?
- tell parents to keep a seizure diary about what happened before, during and after each episode
- bloods:
- FBC
- ferritin
- TFTs
- EEG
- with hyperventilation is absence seizure suspected
- with sleep deprivation if complex partial seizure suspected
How would you treat a child with absence seizures?
- sodium valproate OR
- ethosuximide
A 4yo boy presents with difficulty climbing stairs + inability to run. He did not start walking + talking until 18/12. O/E there is marked head lag + calf pseudohypertrophy.
What is the likely diagnosis and how would you investigate?
Duchenne Muscular Dystrophy
Ix
- bloods: CK (sig. raised), ALT (raised)
- genetic analysis: to ID DMD mutations
- muscle biopsy _ dystrophin protein assay (unless genetic Dx known)
Name classical examination findings in DMD.
- calf pseudohypertrophy (infiltration by fat + connective tissue)
- Gower’s sign
- compensatory posture: broad base, lumbar lordosis
- progressive scoliosis
- head lag due to weakness of neck flexors
Describe the aetiology of DMD.
X-linked recessive mutation in dystrophin gene causing absence of dystrophin protein. Results in progressive muscle degeneration: symmetrical, initially of pelvic and pectoral girdles.
