The West syndrome is a disease that begins in the child before the age of one year. In its typical and complete form, it manifests a symptomatic triad presenting epileptic seizures in the form of flexion or extension spasms (generally in salvos), a halt in intellectual development (the children developed an intellectual decline which was irremediable), and a characteristic EEG image trace, desc...

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22qll, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeor...

Thyrotropin-releasing hormone (TRH) has been successfully used for treating children with neurologic disorders including epilepsy. The effectiveness of TRH and a TRH analog has been reported in West syndrome, Lennox–Gastaut syndrome, and early infantile epileptic encephalopathy that were intractable to anticonvulsants and adrenocorticotrophic hormone (ACTH). However, the peptide has not been wi...

Epilepsy is one of the most common neurological disorders in childhood, with multiple etiologies, acquired or congenital, symptomatic to previous central nervous system insults or resulting from genetic causes at the molecular level. The treatment of epilepsy has always aimed at eliminating or reducing the number of seizures, without necessarily influencing the pathophysiology of the disease it...

In the study of 887 new born infants with prenatal and perinatal risk factors for brain damage, 11 children with West syndrome that progressed into Lennox-Gastaut syndrome and another 4 children with Lennox-Gastaut syndrome that had not been preceded by West syndrome were found. In this study we present the main findings of these 15 subjects. In all infants multifactor antecedents were detected...

A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI). West syndrome is the triad of infantile spasms, interictal hypsarrhythmia, and mental retardation. Rapid trio whole-genome seque...