1. Neurological Problems
Dr Gillian Small
Consultant Paediatrician

2. Neurological Problems
Congenital anomalies
Cerebral Palsy
Seizures
Meningitis/encephalitis
Encephalopathy
Neurodegenerative Disorders
Neuromuscular Disorders

3. Cerebral palsy
Disorder of posture and movement due to non progressive damage of developing brain.
First described 150 years ago
Prevalence 2-3 per 1000 live births
Slight increase in recent years due to increase in survival of sick preterms

4. Aetiology Preterm babies Perinatal cause in 90% of these
Periventricular leukomalacia
Intraventricular haemorrhage
Prenatal cause in 10%
Brain malformation

5. Aetiology Term babies In 75% cause is prenatal Genetic
Cerebral malformation eg migration defect
Intrauterine infection eg CMV, rubella, toxo
Maternal – placental illness
15% perinatal eg birth asphyxia
10% postnatal eg meningitis, head injury, cardiac arrest

6. Neurophysiology Approx 40% of children with CP are preterm
Damage to extrapyramidal system causes dyskinetic CP (basal ganglia) or
ataxic CP (cerebellum)
Spastic CP results primarily from damage to
pyramidal system (motor cortex/ internal capsule)

7. Neurophysiology Damage to pyramidal system causes
Loss of selective voluntary control
Dependence on primitive patterns of mobility
Abnormal muscle tone & weakness
Agonist/antagonist imbalance – causes fixed joint positions & contractures
Preserved primitive reflexes

8. Classification of CP Diplegia (44%) Quadriplegia (7%) Hemiplegia (34%)
Dyskinetic (9%)
Ataxic (6%)
Diplegia - mainly lower limbs. 65% in preterms due to perinatal cerebrovascular disease. Almost all are home or limited outside walkers
Quadriplegia – severe spasticity of all limbs, usually worse in upper limbs
severe disability
Most non mobile and mentally retarded
Feeding problems due to bulbar involvement, tendency to hip dislocation, scoliosis, constipation
Hemiplegia
One half of body affected, usually arm worse than leg
20% preterm
80%term
Walking only slightly delayed
Dyskinetic CP – mainly athetoid, some dystonic
Choreoathetosis due to kernicterus is now rare
Ataxic CP – most are born at term of which half are due to genetic conditions.
Some have cerebellar hypoplasia seen on MRI

9. Associated Problems
Vision
Hearing
Epilepsy
Feeding
Constipation

10. Diagnosis
Made on follow up of at risk infants from neonatal unit in about half of cases
Parental concern
Routine surveillance
Acquired from later severe illness in first year

11. Diagnosis History Obstetric, perinatal history Lethargic, irritable
Feeding problems, poor weight gain

12. Diagnosis Examination To identify motor delay/abnormality
Take gestational age into account for first 2yrs
General
Dysmorphism, head growth, length, wt gain

13. DIAGNOSIS Tone Hypotonia, hypertonia Movements Primitive reflexes
Normally Grasp gone by 4 months, Moro by 6 months
Abnormal posture/positioning
Persistent thumb adduction, fisting, head lag

14. Diagnosis Asymmetry If persistent, indicates hemiplegia Trunk control
General developmental delay

15. Investigations MRI Chromosomes Rubella/toxo/CMV titres
TFTs, creatine kinase
Urine metabolic screen

16. Management Multidisciplinary team approach Physios
Speech and language therapy
Occupational therapy
Preschool support
Dieticians
Doctors

17. Febrile Fits
Fits precipitated by fever not due to intracranial infection or other CNS cause and are not preceded by afebrile fits
Common: 2 – 5% of children under 5 yrs

18. Aetiology Genetic factors important
Strong family history – 17-31% in first degree relatives
Polygenic mode of transmission
Fever usually high > 38.5 C
Fits usually occur early in course of fever
Perinatal factors do not play a role

19. Clinical Features Usually between 6 months and 6 years of age
Onset before 6 months suggestive of meningitis
Fits usually brief, bilateral, tonic clonic
Complicated febrile fits – if last more than 15 mins, if focal, those followed by Todds paresis. Higher risk of later epilepsy

20. Clinical Features Fits lasting > 30mins – Status epilepticus
May leave sequelae if untreated eg association with hippocampal sclerosis and consequent mesial temporal epilepsy
EEGs poorly correlate with later occurrence of epilepsy

21. Clinical Features Differential diagnosis – meningitis encephalitis
Consider LP in infants, especially < 6 mnths
Herpes encephalitis may present in infants with febrile partial seizures

22. Prognosis Favourable 60 – 70% have only 1 fit
Only 9% have more than 3 episodes
Risk of recurrence greater if family history, aged under 1 year, had 2 or more episodes, had complex febrile fits.
Partial epilepsy more common after long lasting focal fits
Neurodevelopmental outcome usually excellent

23. Treatment Treat underlying illness
Cooling measures advised but no evidence that antipyretics prevent fits
Treat prolonged fits
Regular anticonvulsants are not advised

24. Prognosis Risk of developing afebrile fits – 2-5% (background risk 1%)
Risk low in simple seizures, increases with younger age, neurological/developmental abnormality, family history of epilepsy, complex febrile fits

25. EPILEPSY Definition of epileptic seizure
Paroxysmal discharge of cerebral neurones sufficient to cause a clinically definable event apparent to the observer or subject

26. Diagnosis Require Eye witness account Background history
General and neuro examination
Causes of misdiagnosis
Lack of eye witness
Presence of clonic jerks/incontinence
Positive family history
Over interpretation of EEG

27. Predisposing Factors Genetic Developmental brain abnormalities
Acquired structural abnormalities
- Perinatal insults
- Intracranial infections/trauma
- Prolonged febrile fits
- Cerebral haemorrhage or infarct
- Tumours or AVMs

28. Recurrence Recurrence after first seizure quoted between 71 – 82%
Chances of remission
81% 15yrs later (Goodridge and Shorvon)
82% achieve 2 year remission after 8 years
(Elwes 1984)

29. Differential Diagnosis
Syncope and related disorders
vasovagal episodes
reflex anoxic seizures blue or pallid
long QT
Behavioural/ psychiatric disorders
Neurological disorders
Sleep related phenomenon

30. Types of seizure Focal (simple or complex) Generalised Absence
Myoclonic
Atonic
Tonic
Tonic clonic
Spasms

31. Absence seizures
Sudden cessation of activity with blank facial expression & eyelid flickering
Uncommon < 5yrs
More common in girls
Rarely longer than 30 seconds
No postictal drowsiness
Precipitated by hyperventilation
EEG – 3/second spike and wave
Treat with sodium valproate or ethosuximide

32. Infantile Spasms 3 – 12 months Aetiology
Cryptogenic (20%) normal development & CT
Prenatal–Tuberous sclerosis, cong infection
Perinatal-hypoxia, birth injury
Postnatal-meningitis, encephalitis,trauma

33. Infantile spasms Flexor spasms – of neck, arms & legs on to trunk
Extensor spasms – extension of trunk and extremities & are least common
Mixed
Very brief, occur in clusters, may be preceded by a cry, occur when drowsy or awakening

34. Infantile spasms EEG most commonly associated shows hypsarrythmia
Treat with vigabatrin or steroids
Associated with developmental delay

35. Floppy infant Marked hypotonia, lies in frog position, head lag CAUSES
Exclude systemic cause eg infection, hypothyroidism, inborn error of metabolism, congenital lax ligaments

36. Floppy Infant - Causes Central Encephalopathy
Chromosomal abnormalities eg Down’s, Prader Willi
Ataxic CP

37. Floppy Infant - Causes Peripheral
Spinal cord; transection, compression .
Ant. horn cell; Werdnig Hoffman (acute spinal muscular atrophy), A.R., lack of fetal movements, floppy at birth, muscle fasciculation esp of tongue. Diagnosed on EMG, muscle biopsy. Death before 18 months from resp failure.
Milder forms exist.

38. Floppy infant - Causes Peripheral Nerve Guillain Barre neuritis
Neuromuscular Junction
Myasthenia gravis. Transient in baby of myasthenic mother, or persistent

39. Floppy infant - Causes Muscle Congenital myopathy
Myotonic dystrophy; A.D., involves face and neck muscles producing myopathic face, ptosis, open/fish like mouth. Myotonia – difficulty in relaxing grasp. Also cardiac involvement and cataracts.
Many die in newborn period, those surviving show some recovery.

40. Floppy infant - Causes Metabolic myopathy
Glycogen storage disease type II (Pompe Disease)
Muscular Dystrophy; Duchenne MD X linked recessive. Rarely symptoms in early infancy. Late walkers, hypertrophied calves, onset of weakness aged 2 yrs, Gower’s sign.
Elevated creatine kinase
Genetic counselling, prenatal diagnosis
Death in late adolescence, early adult life