Epileptic Encephalopathies and Related Syndromes in Children

Summary

Although epilepsy in children is often considered as a benign condition with possible recovery in adolescence, most cases are accompanied by serious disturbances of the cognitive functions. Epileptic encephalopathies represent the most dramatic section of pediatric neurology. In most cases, children develop severe frequent polymorphic seizures, permanent extended epileptiform activity on the electroencephalogram and severe disturbances of higher mental functions. In some patients, seizures may be absent but severe cognitive, behavioral and speech disturbances develop in any case.
This book, written by Russian experts in the aforementioned field, is devoted to those epileptic encephalopathies when epilepsy itself is the major cause of psychomotor retardation in children. It summarizes current data from the worldwide literature and the authors’ long experience of practical work with patients suffering from epileptic encephalopathies.
Each chapter includes a clear definition of the syndrome, its historical background, information about etiology and pathogenesis. Maximal attention is paid to the semiology of epileptic seizures, EEG and neuroimaging data.
Diagnostic criteria and differential diagnosis are presented in detail. Many sections are illustrated with histories and photos of patients with rare diseases, examples of typical changes in EEG and MRI. And of course, the treatment is provided for all forms of epileptic encephalopathies.

Table of content

Epileptic encephalopathies: definition and classification

Epileptic encephalopathies of neonatal age and infancy

• Early (neonatal) myoclonic encephalopathy
• Early infantile epileptic encephalopathy with suppression-burst pattern on the EEG (Ohtahara syndrome) - Severe epilepsy with multiple independent spike foci (SE-MISF, Markand - Blume-Ohtahara syndrome, Ohtahara II syndrome)
• Malignant migrating partial seizures in infancy (Coppola-Dulac syndrome)
• West syndrome etiology, electro-clinical characteristics and differential diagnosis
• West syndrome : treatment and prognosis
• Severe myoclonic epilepsy of infancy (Dravet syndrome)

Epileptic encephalopathies of childhood

• Lennox-Gastaut syndrome
• Pseudo-Lennox syndrome (atypical benign partial epilepsy of childhood)
• Landau-Kleffner syndrome (acquired epileptic aphasia)
• Epilepsy with electrical status epilepticus during slow sleep
• Cognitive epileptiform disintegration and related syndromes

Epileptic encephalopathies in chromosomal abnormalities

• Congenital diseases and chromosomal abnormalities, accompanied by epilepsy : common features and brief semiology
• Edwards syndrome (18 chromosome trisomy)
• Miller-Dieker syndrome
• Hemimegalencephaly
• Down syndrome
• Ring chromosome 20 syndrome
• Smith-Magenis syndrome

Epileptic encephalopathies in established or suspected monogenic disorders

• Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, chorioretinopathy)
• Rett syndrome
• Angelman syndrome
• Tuberous sclerosis
• Sturge-Weber syndrome
• Hypomelanosis of Ito (incontinentia pigmenti achromians)

Epileptic encephalopathies in inborn errors of metabolism

• Tay-Sachs disease (GM-2 gangliosidosis type B, early childhood amaurotic family idiocy)
• Hallervorden-Spatz disease (Pantothenate kinase-associated neurodegeneration-PKAN)
• MELAS-syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes)
• Neuronal ceroid lipofuscinosis
• Huntington disease
• Unverricht-Lundborg disease
• Lafora disease

Epileptic encephalopathy with suspected inflammatory etiology

• Kozhevnikov epilepsy
• Kozhevnikov-Rasmussen syndrome
• Devastating epileptic encephalopathy in school-aged children and fever induced epileptic encephalopathy in school-age children
• Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE syndrome)

Epileptic encephalopathy related to idiopathic generalized epilepsy

• Epilepsy with myoclonic-astatic seizures