Prevalence
Very small; ~20 infants have been reported.

Age at onset
First week to 7 months of life; mean age 3 months.

Sex
Males = females.

Neurological and mental state
Usually normal prior to the onset of seizures.

Etiology
Unknown. There is no family history. Brain neuropathology in 2 cases showed only severe hippocampal neuronal loss and gliosis.

Clinical manifestations
Nearly continuous multifocal seizures with variable and alternating localizations involving the whole cortex. Initially, seizures are motor (eye and head deviation, clonic jerks of eyelids or limbs, tonic components) with secondarily generalized tonic-clonic seizures and convulsive status epilepticus. Autonomic manifestations (apnea, cyanosis, sweating, hiccups) are prominent. After 1 to 10 months, the seizures become polymorphous, very frequent, or continuous. Epileptic spasms are exceptional.

Diagnostic procedures
All tests, including brain imaging, are normal.

Inter-ictal EEG
Exceptionally normal at onset. Diffuse slow activity is the rule with alternating side emphasis in serial EEGs. Multifocal spikes are prominent.

Ictal EEG
Focal discharges randomly involve multiple independent sites, moving from one cortical area to another in consecutive seizures. Duration is 1 to 4 min; subclinical discharges of 30 to 60 sec are common.

Prognosis
Devastating and often fatal. Rapid and relentless severe psychomotor regression with major axial hypotonia and quadriplegia.

Differential diagnosis
Focal symptomatic epilepsy.

Management options*
Conventional AEDs and steroids are ineffective. Treatment with stiripentol# and clonazepam or potassium bromide has been successful in a few otherwise intractable cases.

*Expert opinion, please check FDA-approved indications and prescribing information
#Not approved by the FDA

This page was adapted from:

The educational kit on epilepsies
The epileptic syndromes
By C. P. Panayiotopoulos

Originally published by MEDICINAE
21 Cave Street, Oxford OX4 1BA
First published 2006 and reprinted in 2007

Reviewed and revised June 2008 by Steven C. Schachter, MD