Syndromes Flashcards
1
Q
Benign familial neonatal convulsions
A
- Diagnosis of exclusions in neonates with known family history
- Usually born full term and neurologically normal
- Seizures occur on 2nd or 3rd day of life
- Interictal EEG is normal
- No metabolic abnormalities
- Treatment: phenobarbital or valproiac acid.
- Majority of seizures remit by 6 weeks
- 10-15% risk of epilepsy
2
Q
Benign neonatal convulsions
A
- “Fifth day fits”
- Clonic or apneic seizures around 5th day of life
- Neurologically normal
- Interictal EEG may show focal or multifocal sharps
- Unclear if treatment is needed
- No risk of epilepsy
3
Q
Early infantile epileptic encephalopathy
A
- Ohtahara syndrome - belongs to spectrum of age-dependent progressive epileptic encephalopathies
- May include West Syndrome or Lennox-Gastaut syndrome
- No specific etiology but brain lesions like porencephaly or hemimegaloencephaly frequent
- Tonic seizures within 1st month
- EEG: burst suppression pattern with intervening high-voltage bursts
- Treatment: ACTH partially effective
- Seizures highly resistant
- Prognosis poor
4
Q
Early myoclonic encephalopathy
A
- Unknown cause
- Associated with inborn errors of metabolism. Ex: nonketotic hyperglycemia, propionic aciduria, D-glycine academia
- 1st month of life
- Erratic, fragmentary myoclonus
- EEG: burst suppression that may evolve into hypsarrhythmia
- Unremarkable neuroimaging
- Treatment: Little response to AEDs
- Fatal in infancy or early childhood
5
Q
Benign partial epilepsy of infancy
A
- Complex partial seizures during 1st year of life
- Otherwise, neurologically normal
- Unremarkable metabolic/imaging
- EEG: focal ictal discharges. Normal interictally
- Treatment: Carbamazepine, phenobarbital, valproate
6
Q
Benign myoclonic epilepsy of infancy
A
- Massive myoclonic jerks
- 5 months to 5 years
- EEG: Generalized spike-wave discharges, almost always during sleep
- Treatment: Valporate
- Long-term remission common
7
Q
West syndrome
A
- Triad of infantile spasms, hypsarrhythmia, and psychomotor arrest
- Underlying structural disorder in majority. Other: infections, metabolic. Cryptogenic in 15-30%
- Symmetrical/asymmetrical flexor spasms, often in clusters
- middle of 1st year of life
- EEG: hypsarrhythmia. Continuous high-amplitude, asynchronous spke/slow wave discharges
- Treatment: ACTH, vigabatrin
- Prognosis: generally poor
8
Q
Severe myoclonic epilepsy in infancy
A
- Dravet syndrome: unilateral clonic or generalized seizures or SE during first year of life
- Typically triggered by fever. Then generalized or erratic myoclonus, atypical absences, and simple/complex partial seizures
- Nonsense mutation of SCN1a gene in 70%
- EEG: interictal and neuro development initially normal.
- Unremarkable neuroimaging
- Treatment: Topiramate and stiripentol effective for some
- Lamotrigine worsens
9
Q
Pyridoxine-dependent seizures
A
- Rare but reversible seizures associated with glutamine carboxylase gene defect
- Long-lasting partial seizures by age 3 months. Could be seen in utero
- Behavior: irritable, jittery, or vomiting prior to seizures
- Treatment: pyridoxine immediately stops seizures and improves EEG activity
- Not uncommon: mental retardation, leukodystrophy, cerebral atrophy
- No conventional AEDs
10
Q
Benign childhood epilepsy with centrotemporal spikes
A
- Most common epilepsy in childhood
- Localization-related epilepsy with strong family predisposition for febrile or afebrile seizures
- Begins between infancy and prior to puberty. 5-10 years most commonly
- Occur predominantly during sleep
- Partial seizures: paresthesias in face, speech arrest, drooling, choking sensations. Followed by tonic or clonic convulsions that may generalize
- Normal neurologic development and neuroimaging
- EEG: interictal rolandic/midtemporal spikes. Unilateral or bilateral
- Treatment: unclear if needed. Low dose oxcarbazepine
11
Q
Benign occipital epilepsy of childhood
A
- Panayiotopoulos syndrome
- Between ages 2-8 years (typically age 5 years)
- Seizures: Tonic eye deviation, nausea/vomiting, and autonomic manifestations (syncope, dilated pupils)
- EEG: high-amplitude occipital spikes
- Treatment: carbamazepine if seizures frequent.
- Remission generally occurs in 1-2 years
12
Q
Generalized epilepsy with febrile seizures plus
A
- Phenotypically diverse disorder. Multiple febrile seizures after age 6 years. Absence, myoclonus, atonic, myoclonic-astatic seizures
- EEG: No specific pattern
- Inheritance: Autosomal. Associated with several genes
- Treatment: Tailored to individual seizure type
- Neurologically intact or mildly impaired. Good prognosis
13
Q
Absence epilepsy
A
- 4 major syndromes associated with typical absence seizures: childhood absence epilepsy (CAE), juvenile absence, myoclonic absence, and juvenile myoclonic epilepsy (MME)
- Most common is CAE. Onset between 4-8 years
- Absence lasts 5-15 seconds. Eye fluttering. May occur as frequently as hundreds of times daily
- Precipitated by hyperventilation
- EEG: 3 Hz spike-wave discharges
- Neurologically normal. But poor school performance not uncommon
- Treatment:
—CAE: ethosuximide. Szs generally expected to remit
—JME: valproate
14
Q
Juvenile myoclonic epilepsy (JME)
A
- One of the most common epilepsy syndromes
- Age of onset: 12-18 year, mean onset 14 years
- Seizures: myoclonic jerks on awakening (commonly in arms), generalized tonic-clonic sz (nearly all patients), absences (30%)
- Sensitivities: sleep deprivation, alcohol, photic stimulation
- Intelligence normal but behavioral/personality disorders common
- Imaging: Frontal/thalamic atrophy
- EEG: interictal 5-6 Hz “fast” polyspike-wave patterns
- Treatment: Valproate is most effective. Regulation of lifestyle
15
Q
Epilepsy with grand mal seizures on awakening
A
- Associated with seizures in teens or twenties
- Generalized tonic-clonic seizures occurring shortly after awakening but may also occur in evening
- May also have absence and myoclonic seizures
- Sleep quality is unstable
- EEG: abnormally slow interictal background with generalized spike-wave activity
- Treatment; valproate, usually indefinitely
