Epilepsy syndromes

Question 1

Neonatal seizures

Answer 1

BENIGN FAMILIAL NEONATAL CONVULSIONS

• Autosomal dominant mutation in KCNQ (K+ channel)
• No impact on development

WEST SYNDROME
- Triad of infantile spasms, hyparrhythmia and arrest of psychomotor development

Rx: steroids, VGB for tuberous sclerosis

OHTAHARA SYNDROME
- Burst suppression on EEG

Question 2

Panayiotopuolos syndrome

Answer 2

EARLY ONSET CHILDHOOD OCCIPITAL EPILEPSY - encephalopathy, Episodes of eye deviation progressing to altered awareness followed by pallor and vomiting that last 20-30 minutes. Interictal shows occipital spikes in most cases.

Prognosis is good

Question 3

Dravet syndrome

Answer 3

SEVERE MYOCLONIC EPILEPSY OF INFANCY -Presents in infancy. Often overlooked as a febrile convulsion with myoclonic seizures appearing between 1-5 years. Progress to prolonged or repetitive seizures and febrile seizures that continue >6years. MRI and EEG are normal at this stage.
Complex inheritance (AD with variable penetrance).

75% have mutation in SCN1a. Have developemental arrest and generalised polyspikes on EEG.
Often treatment resistant

Question 4

School aged child, middle of the night has choking sounds and gentle noise

Answer 4

CHILDHOOD EPILEPSY WITH CENTRO-TEMPORAL SPIKES (Benign rolandic epilepsy) - 15% of childhood epilepsy, onset 4-10 years.

Nocturnal partial seizures, involving face and tongue. EEG shows centrotemporal spike with sleep.

Resolves by teens, treatment optional but can use carbamazepine

Question 5

Childhood absence epilepsy

Answer 5

10% of epilepsy, onset 4-8 years with staring spells.

EEG shows 3Hz spike and wave, provoked by hyperventilation

Treatment with ethosuximide as has fewer behavioural size effects when compared with valproate

Question 6

Lennox-Gastaut syndrome

Answer 6

5% of childhood epilepsy, onset 3-5 years
Multiple types of intractable seizures (including drop type) with cognitive and behavioural impairment.

Form of ‘epileptic encephalopathy’ showing diffuse slow spike-and-wave and paroxysms of fast activity on EEG, most commonly caused by structural brain abnormalities

Question 7

Juvenile absence epilepsy

Answer 7

Onset 10-17 years.
Less likely to resolve and associated with tonic clonic seizures.

EEG shows generalised 3-6 Hz spike and wake discharges.
Treatment with valproate or lamotrigine (girls)

Question 8

Juvenile myoclonic epilpesy

Answer 8

Peak 12-16 year
Early morning myoclonus (dropping cup). GTC in majority but can have absences.

EEG shows 4-6 Hz polyspike-wave bursts EVOKED by photic stimulation.
Treatment with valproate or lamotrigine (girls)

Question 9

Temporal lobe epilepsy

Answer 9

Often with aura, or automatisms of mouth and hand. Onset from 10 years of age onwards, with previous history of prolonged febrile seizure, or CNS injury.

Neuroimaging shows hippocampal atrophy with localised spikes on EEG

Question 10

Frontal lobe epilpsy

Answer 10

As a differential to night terror in children. Often with bizarre activity that is stereo-typed for each patient.

ADNFLE (autosomal dominant) with mutation in ACh receptor

Question 11

Landau-Kelffner syndrome

Answer 11

Acquired epileptic aphasia with regression in language and associated seizures (in the differential for autism).

Presents 2-8 years. EEG shows continuous status epilepticus with bialteral spike and wave in slow sleep.