Infantile spasms are characterized by age-specific expression of epileptic spasms and hypsarrhythmia and often result in significant cognitive impairment. Other epilepsies or autism often ensue especially in symptomatic IS (SIS). Cortical or subcortical damage, including white matter, have been implicated in the pathogenesis of SIS. To generate a model of SIS, we recreated this pathology by inj...

The aim of the study was to evaluate magnetic resonance imaging (MRI) findings in infants with periventricular leukomalacia (PVL) and West syndrome (WS) and determine the neurodevelopmental outcome in children with West syndrome and PVL. Ultrasound and brain MRI were performed in 37 infants with recognized PVL. PVL was categorized according to De Vries, whereas West syndrome was categorized acc...

This prospective, open label, uncontrolled study was performed to evaluate the efficacy and tolerability of the modified Atkins diet in children with refractory infantile spasms. Fifteen consecutive children aged six months to three years having daily infantile spasms in clusters with electroencephalographic evidence of hypsarrhythmia despite treatment with hormonal treatment (oral corticostero...

Infantile spasm (IS) is a specific rare type of seizure seen in an epilepsy syndrome of infancy; it is also known as West syndrome and is characterized by developmental regression and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). Gastroesophageal Reflux Disease (GERD) is considered a common clinical problem in every day paediatrics clini...

We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQ...

Case presentation: M.S.G, 1 year old, previously healthy, suffered intoxication by acaricide (organophosphate and pyrethroid) in November 2021. Patient presented seizures, vomiting, bronchoaspiration, pneumonia, severe respiratory distress two cardiorespiratory arrests. The magnetic resonance imaging showed hemorrhagic laminar cortical necrosis slight accentuation of sulci brain fissures. He wa...

Case presentation: A one-month-old male presented with fever, flu-like symptoms, decreased level of consciousness and seizures. He tested positive for SARS-CoV-2. Cerebrospinal fluid (CSF) analysis revealed pleocitosis elevated protein, the viral panel herpes simplex virus (HSV) types 1 2, human herpesvirus (HHV) type 6, cytomegalovirus (CMV), Influenza A, B, Parechovirus e Enterovirus COVID ne...

PURPOSE To investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) symptom complex. This complex is nonspecific, but within this syndrome, a subgroup with a defined neuropathologic phenotype and apparently autosomal recessive inheritance exists. METHODS Brain CT or MR studies were performed on 21 patients with ...