PURPOSE ACTH is currently the standard first-line therapy for new-onset infantile spasms, but it has significant side effects. We hypothesized the ketogenic diet (KD), previously reported as beneficial for intractable infantile spasms, would have similar efficacy, but better tolerability than ACTH when used first-line. METHODS We conducted a retrospective chart review of all infants started o...

Aicardi syndrome is a severe congenital disorder characterised by infantile spasms, chorioretinal lacunae, and agenesis ofthe corpus callosum. We present the case of a 10-year-old girl whose symptoms included a poorly controlled seizure disorder, typical lacunar retinopathy, partial hypoplasia of the corpus callosum, and mild developmental delay. This case alerts ophthalmologists to the presenc...

PURPOSE To assess outcome of children diagnosed with infantile spasms (IS) during the six-year-period (2002-20006), at the Pediatric Clinic of Clinical Center of University of Sarajevo, as well as to present other important clinical characteristics in this group of patients. METHODS All patients had medical histories with detailed description orvideo recordings of their seizures, as well as p...

We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarrhythmia. Both cases shared diffuse brain atrophy and severely delayed myelination on neuroimaging. Genetic analysis revealed individual heterozygous mutat...