Pediatric Epileptic Syndromes

Etiology of Seizures & Epilepsy:

  • Infants, Children: Prenatal or Birth injury vs. Inborn Errors of Metabolism vs. Congenital Malformation
  • Children, Adolescents: Idiopatchi or Genetic vs. CNS Infection vs. Trauma
  • Adolescents, Young Adult: Head Trauma vs. Drug Intoxication or Withdrawal 

Seizure Type: determed by patient's behavior and EEG pattern during the event

Epilepsy Syndrome: defined by age at onset, seizure types, EEG patterns and family history 

Case 1:

  • HPI: 5 month old with no past medical history presents with concerns for jerking movements of head and arms
  • Exam: healthy child, mild truncal hypotonia 
  • EEG: Hypsarrhythmias
  • Diagnosis: West Syndrome (Infantile Spasms)
    • Sudden, symmetric, tonic muscle contraction production flexion/extension of truck and extremities 

Case 2:

  • HPI: 4 year old history of birth related HIE and resultant static encephalopathy presents with episodes of head drops & staring spells & occasional falls 
  • Exam: Microcephaly, cognitive delays, spasticity 
  • EEG: shows diffuse 2-2.5 Hz spike wave (slow spike & wave activity)
  • Diagnosis: Lennox-Gastaut Syndrome 
    • Frequent seizures, mental retardation, resistance to drug therapy, mixed seizure disorder (atonic, tonic, atypical absence)
    • Onset peaks at 3-5 years of age 

Case 3:

  • HPI: 9 year old presents with first time seizure. Nocturnal, speech arrest, drooling followed by left face and arm clonic activity
  • Exam: non-focal & normal development
  • EEG: EKG like morphology of waves with this type of epilpesy (sharp spike & slow wave); normal back ground with centrotemporal spokes activated by drowsiness and sleep ipsilateral to side of body with clonic activity 
  • Diagnosis: Benign Rolandic Epilepsy
      • Age of onset is late childhoold (~3-10 years of age)
      • Low frequency of seizures thus don't treat the first seizure!
        • 25% of patients have 1 seizure; 50% of patients have < 5 seizures 
      • Epilepsy usually remits by 16 years of age 
      • Speech involved & if occurs upon waking up at night, think Benign Rolandic Epilepsy
      • Seizure Type: simple partial motor in ~75%, involving face, oropharyngeal muscles and upper limb with retained conciousness 
      • Some patients have Learning Disabilities 
      • Management: unclear if truly necessary but patients get a good repsonse with Carbamazepine & Oxcarbamazepine 

Case 4:

  • HPI: 6 year old with declining school performance, staring spells. Normal birth history and development
  • Exam: normal 
  • EEG: bursts of 2.5 to 3.5 Hz spike and wave induced by hyperventilation with brief unresponsiveness; normal background
  • Diagnosis: Absence Epilepsy
    • Occurs around age 4 to 8 years old but can also start during puberty 
    • More common in females 
    • Simple: brief, staring episodes, unresponsive, motor arrest
    • Complex: oral or motor automatisms, autonomic phenomenom, incontinence
    • abrupt onset and offset, NO POSTICTAL STATE, which is how you differentiate from complex partial seizures 
    • Management: Ethosuximide or Valproate 

Case 5: 

  • HPI: 15 year old healthy teenager with first "grand mal" seizure occured in setting of sleep deprivation. Sometimes "clumsy" in the morning, drops things, sometimes jerks after awakening. 
  • Exam: normal along with normal labs and MRI
  • Diagnosis: Juvenile Myoclonic Epilepsy
    • Precipitated by fatigue, alcohol, sleep deprivation; 40% have a family history 
    • Seizures recur in 80-90%; minority have seizure remission 

Epilepsy Mimics:

  • Syncope
  • Metabolic Derangements
  • Migraine
  • Cerebral Vascular Disorders
  • Sleep Disorders
  • GI Disorders
  • Psychiatric Disorders (such as PNES)
  • Respiratory Conditions