Chapter 22: Neurology

Forfar & Arneil's Textbook of Pediatrics · Seizures · Headaches · Neuromuscular disorders · CNS infections · Neurodevelopmental assessment
🧠 Key concepts: Seizure mimics (syncope, breath-holding), status epilepticus emergency management, migraine vs tension headache, cerebral palsy classification, acute flaccid paralysis (Guillain-Barré, transverse myelitis), raised ICP red flags, neuroimaging indications.

📖 Core neurology: from seizures to neuromuscular conditions

⚡ Seizures & epilepsy
Febrile seizures (simple <15min, generalised). Focal impaired awareness. Generalised tonic-clonic, absence, myoclonic, atonic. Infantile spasms (hypsarrhythmia). Status epilepticus – emergency.
🤕 Headache & raised ICP
Migraine with/without aura, tension headache, red flags: 'worst ever', waking with headache, vomiting, focal neurology, papilloedema → urgent imaging.
🧬 Neuromuscular disorders
Duchenne muscular dystrophy (X-linked, Gowers' sign, elevated CK, dystrophin). Spinal muscular atrophy (SMN1 deletion). Myasthenia gravis (ptosis, fatiguability).
🦠 CNS infections
Meningitis (fever, neck stiffness, bulging fontanelle, Kernig/Brudzinski). Encephalitis (altered consciousness, focal signs, seizures). Lumbar puncture essential (but caution if raised ICP).
🧩 Cerebral palsy & movement disorders
Spastic (hemiplegia/diplegia/quadriplegia), dyskinetic (choreoathetosis), ataxic, mixed. Early therapy, tone management, seizure control.
⚠️ Red flags in paediatric neurology: Rapidly progressive weakness, acute flaccid paralysis (Guillain-Barré), head circumference >98th centile (hydrocephalus), regression of milestones (neurodegenerative), complex febrile seizures, focal seizure with persistent deficit (Rasmussen? tumour?).

🩺 Symptom-based neurological evaluation

1
Headache: Acute? Chronic? Migraine features (throbbing, photophobia, aura) vs tension (band-like). Red flags: early morning vomiting, worse on lying, progressive pattern, focal signs → neuroimaging.
2
Seizure/episodic event: Differentiate epileptic from non-epileptic (syncope, breath-holding, parasomnia, pseudoseizure). History of aura, post-ictal state, eye deviation, stereotyped pattern. EEG, video telemetry.
3
Developmental delay / regression: Determine if global or specific. Regression (loss of skills) suggests neurodegenerative/metabolic disorder (leukodystrophy, neuronal ceroid lipofuscinosis, Rett syndrome). MRI, metabolic screen.
4
Acute flaccid weakness: Spinal cord lesion? Peripheral neuropathy? Guillain-Barré (areflexia, ascending weakness, elevated CSF protein). Polio/enterovirus. Transverse myelitis (sensory level, bladder dysfunction).
5
Abnormal movements (chorea, tics, dystonia): Sydenham chorea (post-streptococcal, 'milkmaid grip'). Tics (Tourette). Drug-induced. Wilson disease (Kayser-Fleischer rings, liver disease).
6
Ataxia: Acute post-infectious cerebellar ataxia (common in young children). Episodic ataxia (channelopathy). Progressive ataxia (Friedreich, ataxia-telangiectasia, metabolic).
📌 Clinical algorithm: Child with first afebrile seizure → history, exam → if focal onset, prolonged, abnormal neurology → urgent neuroimaging (MRI). EEG not required emergently unless suspect non-convulsive status.

📋 Stepwise management: core neurological emergencies

1
Status epilepticus (any seizure >5min or recurrent without recovery): ABC, O2, glucose check. IV lorazepam (0.1mg/kg) or buccal midazolam. If refractory → IV phenytoin (20mg/kg) or levetiracetam. Third-line: phenobarbital, midazolam infusion, ICU (thiopentone/ propofol).
2
Bacterial meningitis suspicion: Blood cultures, IV antibiotics (cefotaxime/ceftriaxone + dexamethasone). Lumbar puncture unless contraindicated (signs of raised ICP, coagulopathy). Dexamethasone reduces hearing loss in Hib/pneumococcus.
3
Raised ICP (brain tumour, hydrocephalus): Urgent CT/MRI. Avoid LP. Mannitol or hyperventilation if herniation risk. Neurosurgical referral for CSF diversion (e.g., ETV, shunt).
4
Guillain-Barré syndrome: Monitor vital capacity, ascending weakness. IVIG (2g/kg over 2 days) or plasma exchange. Respiratory support if FVC <20ml/kg. Autonomic instability → ICU monitoring.
5
Infantile spasms (West syndrome): Urgent EEG (hypsarrhythmia). First-line: oral prednisolone (high-dose) or ACTH, vigabatrin (especially with tuberous sclerosis). Early treatment improves developmental outcome.
6
Chronic epilepsy management: Monotherapy (sodium valproate for generalised, carbamazepine/levetiracetam for focal). Avoid valproate in girls of childbearing potential if possible (teratogenicity). Ketogenic diet for refractory epilepsy.
📌 Lumbar puncture contraindications: GCS <9 or deteriorating, signs of raised ICP, focal neurology, papilloedema, coagulopathy, cardiorespiratory instability, infected skin over puncture site.

🧠 Neurology Reflex Prompts: clinical scenarios

⚡ A 3-year-old with 5min generalised tonic-clonic seizure, febrile (39.5°C). Post-ictal drowsy for 10min then normal. Next step?
Simple febrile seizure. No further investigation unless atypical (focal, >15min, recurrent within 24h). Antipyretics, reassurance. No routine EEG/LP.
🧠 2-month-old with clusters of flexor spasms, hypsarrhythmia on EEG. Diagnosis?
Infantile spasms (West syndrome). Urgent treatment: high-dose prednisolone or vigabatrin (especially if tuberous sclerosis). Poor prognosis if delayed.
👧 5-year-old girl with 2 months of brief staring spells, >100 per day, abrupt onset/offset. Hyperventilation triggers. EEG: 3Hz spike-wave.
Childhood absence epilepsy. Ethosuximide or valproate. Normal IQ, most remit by adolescence.
🦵 4-year-old boy, difficulty climbing stairs, Gowers' sign, calf pseudohypertrophy. Creatine kinase 15,000. Likely diagnosis?
Duchenne muscular dystrophy (dystrophin gene deletion). Confirm by genetic testing or muscle biopsy. Prednisolone improves strength, cardiomyopathy surveillance.
🧪 6-year-old with subacute ataxia, slurred speech, tremors. Kayser-Fleischer rings on exam. What's the diagnosis and investigation?
Wilson disease (copper accumulation). Low serum caeruloplasmin, high 24h urinary copper, slit lamp examination. Treatment: zinc/penicillamine.
🦠 8-month-old, fever, irritability, bulging fontanelle. LP shows WBC 1200 (80% neutrophils), glucose 1.2 (plasma 5), protein 1.8. Causative organism likely?
Bacterial meningitis (likely Group B Strep, E. coli, pneumococcus). Start IV cefotaxime + ampicillin (age dependent). Dexamethasone.
🚨 Adolescent with acute ascending weakness, areflexia, normal CSF cell count but protein 1.2 g/L. Diagnosis?
Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy). Monitor vital capacity; treat with IVIG if unable to walk.
🧠 3-year-old with episodic unresponsiveness, cyanosis after crying, stiffens then relaxes. Likely diagnosis?
Breath-holding spell (cyanotic type). Reassurance, treat iron deficiency if present. Differentiated from seizure by precipitant (crying, anger) and no post-ictal confusion.
👁️ 12-year-old with fluctuating ptosis, diplopia worse at the end of day. Neostigmine test positive. Antibody?
Myasthenia gravis (anti-ACh receptor antibodies). Thymus imaging, pyridostigmine, immunosuppression.
🧬 Boy with progressive weakness, areflexia, tongue fasciculations, and SMN1 deletion. Diagnosis?
Spinal muscular atrophy (SMA). Supportive care, Nusinersen/ gene therapy available for type 1.