This document provides an overview of the clinical presentation and evaluation of neurological diseases in children. It discusses common neurological symptoms seen in children such as seizures, impaired consciousness, developmental delay, and motor weakness. It then covers the examination of children with neurological symptoms, including developmental, neurological, and physical examinations. Key areas of the neurological exam are described. Common causes of different neurological presentations in children are outlined, such as seizures, impaired consciousness, developmental delay, and paralysis. Common investigations for neurological diseases in children are also listed.

1. Clinical Presentation
of
Neurological Diseases
in Children
Symptoms, Signs, Clinical Presentation, Investigations,
Prof. Imran Iqbal
Fellowship in Pediatric Neurology (Australia)
Prof of Paediatrics (2003-2018)
Prof of Pediatrics Emeritus, CHICH
Prof of Pediatrics, CIMS
Multan, Pakistan

2. (God Almighty speaking to Prophet Muhammad (PBUH)
The Rahman (The All-Merciful Allah) has taught the Qur‘an.
He has created man. He has taught him (how) to express himself.
The Holy Quran; surah Al-Rahman 55:1-4
In the name of Our Creator Allah, the most Gracious, the most Merciful

3. CNS

4. Brain

5. Our perceptions and Movements

6. Clinical Presentation
of
CNS diseases

7. CNS disease – Clinical Presentation
• Seizures / Convulsions / Fits
• Impaired Conscious level
• Developmental delay
• Intellectual handicap
• Neurological Paralysis / Paresis (motor weakness )
• Neuromuscular disorders / Hypotonia
• Movement disorders
• Headache
• Regression of acquired milestones
• Behaviour problems

8. Evaluation
of the Child with
Neurological Symptoms

9. CNS – Abnormal Symptoms
• Convulsions
• Altered Consciousness
• Delayed development
• Intellectual handicap
• Speech problem
• Motor weakness / Walking problem
• Sensory changes
• Headache
• Unable to see / listen

10. History – Ask about Symptoms
• Neurological Symptoms –
• Onset
• Frequency
• Severity
• Progression
• Birth history
• Development history
• Family history

11. CNS – Abnormal Signs
• Developmental milestones (in relation to age)
• Impaired Conscious level (GCS)
• Convulsions
• Intellectual impairment (retardation / handicap)
• Motor weakness / Paralysis / Paresis
• Abnormal gait
• Abnormal movements
• Visual impairment
• Auditory impairment

12. CNS Examination
in Children

13. Examination of CNS in Children
• OBSERVE – observe the child
• General Physical Examination
• Developmental Examination
• NEUROLOGICAL EXAMINATION –
• Higher Mental Functions
• Cranial Nerves
• Motor System
• Sensory system
• Skull and Spine
• SOMI

14. Developmental Examination

15. Child Development

16. Areas of Development
 Posture and locomotion
 Vision and manipulation
 Hearing and speech
 Personal and social

17. Areas of Development
 Posture and locomotion
 Vision and manipulation
 Hearing and speech
 Personal and social

18. Milestones of Development
Posture and locomotion
 3 months – Head control
 6 months – Roll over
 9 months -– sit without support
 12 months – stand / walk held

19. Milestones of Development
Vision and manipulation (eye – hand coordination)
 3 mo – Eyes fix and follow
 6 mo – Hand approach to hold
 9 mo -– Finger grasp
 12 mo – Release object in examiner’s hand

20. Milestones of Development
Hearing and Speech
 3 mo – Response to voice
 6 mo – Turn to sound
 9 mo -– Babbles
 12 mo – One word

21. Milestones of Development
Personal Social
 3 mo – Smile
 6 mo – Shows likes and dislikes
 9 mo – Stranger anxiety
 12 mo – Waves bye-bye

22. Neurological Examination

23. NEUROLOGICAL EXAMINATION
• Higher Mental Functions
• Cranial Nerves
• Motor System
• Sensory system
• Skull and Spine
• SOMI

24. Higher Mental Functions
• Conscious Level (Glasgow Coma Scale)
• Recognition and Response
• Behavior and activity
• Speech
• Memory

25. Cranial Nerves
• Visual focusing and following
• Light reflex
• Facial Movements
• Response to sound
• Sucking and Swallowing
• Palate movement and Gag reflex

26. Motor System
• Presence of spontaneous voluntary movements in
infant
• Size and Nutrition of muscles
• Tone
• Power
• Deep Tendon Reflexes
• Planter Reflex
• Gait
• Co-ordination
• Involuntary Movements

27. Sensory System
• Touch
• Pain
• Temperature
• Position
• Vibration

28. Skull & Spine
• Shape of skull
• Anterior fontanel
• Occipito-frontal Circumference (OFC)
• Spine – Curvature, local swelling

29. SOMI – Signs of Meningeal Irritation
• Bulging Anterior fontanel
• Neck rigidity
• Kernig's sign
• Brudzinski's sign

30. Causes of different
Clinical Presentations

31. CNS disease – Clinical Presentation
• Seizures / Convulsions / Fits
• Impaired Conscious level
• Developmental delay
• Intellectual handicap
• Neurological Paralysis / Paresis (motor weakness )
• Neuromuscular disorders / Hypotonia
• Movement disorders
• Headache
• Regression of acquired milestones

32. Seizures / Convulsions / Epilepsy
Definition, Clinical Presentation, Etiology

33. Seizures in Children
Definition
• Seizure is a paroxysmal involuntary disturbance of brain
function that may manifest as impaired conscious level,
abnormal motor activity, behavioral abnormalities, sensory
disturbances or autonomic dysfunction
• Convulsion is a generalized seizure with increased tone and
tonic - clonic movements of the body
• Epilepsy is a disorder of the brain characterized by an
enduring predisposition to generate seizures
• Epilepsy is recurrent seizures unrelated to fever or an acute
cerebral insult

34. Seizures in Children (Clinical Presentation)

35. Convulsions

36. Seizures in Children
Etiology - Acute Symptomatic Seizures
• Febrile Seizures (age 6 months to 5 years)
• CNS infections (Meningitis / Encephalitis / Cerebral malaria)
• Intracranial hemorrhage
• Hypoglycemia / Electrolyte imbalance (Na,Ca,Mg)
• Drugs / Chemical Poisoning / Encephalopathy
• Trauma
• Hypoxia
• PNES (Psychological Non-epileptic Seizures)
• Tetanus (spasms not seizures)

37. Seizures in Children
Etiology - Recurrent Seizures
• Epilepsy
 Idiopathic Epilepsy in children has a genetic basis
 Epilepsy in children may be secondary to:
 Hypoxic-ischemic injury to Brain
 Cerebral Malformations
 Degenerative Brain diseases
 Epilepsy in children may be associated with:
Cerebral palsy
Intellectual disability / Mental handicap

38. Impaired Conscious level

39. Impaired Conscious level
Etiology
• Trauma
• Hypoxia
• Shock / Hypotension / Hypertension
• CNS infections (Meningitis / Encephalitis / Cerebral malaria)
• Intracranial hemorrhage
• Encephalopathy (Hypoglycemia, DKA, hepatic failure,
uremia, metabolic acidosis)
• Drugs / Chemical Poisoning
• Cerebral edema

40. Developmental delay
and
Intellectual handicap

41. Developmental delay / Intellectual handicap
Etiology
• Perinatal Brain Damage (HIE) (Hypoxic Ischemic
Encephalopathy)
• Postnatal Brain damage (e.g. Meningitis)
• Cerebral Malformations (e.g. agenesis of corpus callosum)
• Chromosomal disorders (e.g. Down syndrome)
• Genetic diseases (single gene defects)
• Degenerative brain diseases (Leukodystrophy)
• Hypothyroidism (Cretinism)
• Severe Systemic Diseases (cardiac, renal, malnutrition)

42. Developmental delay / Intellectual handicap
Clinical Presentation
• Cerebral Palsy
• Delayed development
• Intellectual handicap

43. Neurological Paralysis / Paresis

44. Neurological Paralysis / Paresis
Etiology
• Cerebral Palsy
• Acute brain damage (meningitis, encephalitis, CVA)
• Degenerative Brain disease (leukodystrophy)
• Space occupying lesions (SOL)
• Spinal cord lesions (trauma, transverse myelitis, TB spine)

45. Neurological Paralysis / Paresis
Clinical Presentation
• Hemiparesis / Hemiplegia
• Paraparesis / Paraplegia
• Quadriparesis / Quadriplegia

46. Neuromuscular disorders

47. Neuromuscular disorders
Etiology
• Acute Flaccid Paralysis:
• GBS (acute demyelinating polyneuropathy)
• Poliomyelitis
• Transverse myelitis
• Traumatic neuritis

48. Neuromuscular disorders
Etiology
• Hypotonia (Floppy infant):
• Infantile spinal muscular atrophy
(Werdnig-Hoffman disease)
• Myopathy
• Muscular dystrophy
• Cerebral palsy (hypotonic type)
• Congenital brain malformation

49. Movement disorders

50. Movement disorders – Types
• Ataxia
• Dystonia
• Chorea
• Athetosis
• Tremors
• Tics
• Myoclonus

51. Headache in Children

52. Headache – Etiology
• Migraine
• Stress / Tension headache
• Depression
• Eye strain
• Sinusitis
• Hypertension
• Addiction (caffeine ?)

53. Regression of
acquired milestones

54. Regression of acquired milestones
Etiology
• Metabolic diseases (IEM)
• Lysosomal Storage Disorders
• Mitochondrial disorders
• Neuronal degenerations (Grey matter)
• Demyelinating disorders (White matter)

55. Investigations
for
Neurological Diseases
in Children

56. Neurological Diseases - Investigations
(as needed)
• ESR, CBC, CRP,
• Serum biochemistry, Electrolytes, Toxicology screen
• CSF examination and microbiology
• CT scan Brain / MRI Brain or spinal cord
• EEG - Electroencephalography
• Nerve Conduction Studies NCS and EMG – electromyography
• Metabolic disease tests – serum aminoacids and urine organic acids
• Chromosomal studies (Karyotype), Chromosomal miroarray
• Genetic studies – WES - Whole Exome Sequencing (DNA exon analysis)
– WGS - Whole Genome Sequencing (DNA total analysis)

57. Prof Imran Iqbal
Fellowship Pediatric Neurology-1991
Royal Children Hospital, Melbourne, Australia