Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic epileptic spasms, and specific electroencephalographic patterns (interictal hypsarrhythmia and ictal voltage suppression). Adrenocorticotropic hormone (ACTH) was first employed to treat infantile spasms in 1958, and since then it has been tried in prospective and retrospective...

Early infantile epileptic encephalopathy or EIEE (Ohtahara syndrome OS) is a kind of intractable seizure that begins in neonatal age with sudden onset of tonic spasms in series or single suppression-burst S-B in EEG.I Imaging shows anatomic defects such as migration disorders and generalized atrophy" with essentially normal metabolic tests. The seizures often change to West's syndrome (WS) ...

Dear Editor, Isovaleric acidemia (IVA) is a rare branched-chain organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Acute and chronic intermittent forms of IVA have been described. The acute form typically present during the neonatal period with acute encephalopathy, vomiting, dehydration, and severe metabolic acidosis. The chronic intemittent form is characterized by p...

STXBP1 HAPLOINSUFFICIENCY IN EARLY ONSET EPILEPTIC ENCEPHALOPATHY Early onset epileptic encephalopathies that occur in very early childhood are rare but particularly catastrophic forms of epilepsy that are invariably associated with significant neurological morbidity (Nordli, 2012). Mutations in the Syntaxin Binding Protein 1 (STXBP1) gene have been linked with two distinct but related forms of...

Vitamin B12 deficiency in exclusively breastfed infants is an important problem in developing countries. Vitamin B12 deficiency is associated with a wide spectrum of clinical manifestations. Few cases of vitamin B12 deficiency have been reported as the cause of infantile spasms. We report the case of a 6-month-old boy diagnosed with infantile spasms associated with vitamin B12 deficiency caused...

BACKGROUND Adrenocorticotrophic hormone (ACTH) and prednisone are both used to treat infantile spasms (IS) in West syndrome. In many countries, ACTH is expensive and difficult to obtain whereas, prednisone or prednisolone are cheap, given orally and easily available. AIMS The purpose of this retrospective data analysis was to compare the efficacy and cost of ACTH and prednisolone in the treat...

To cite: Syed AE. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014206522 DESCRIPTION A 5-month-old full-term male patient, born of a nonconsanguineous marriage presented to A&E department following parental concerns about abnormal movements and developmental regression. Development halted at 4 months of age. The patient increasingly showed episodes with flicke...

how to cite this article: asadi-pooya aa, sharifzade m. west syndrome in south iran: electro-clinical manifestations. iran j child neurol. 2013 summer; 7(3): 40-44. objective we aimed to determine the clinical and electroencephalographic (eeg) characteristics of the patients with west syndrome (ws) in south iran. materials & methods in this retrospective study, all patients with a clinical diag...

BACKGROUND AND PURPOSE West syndrome is an epileptic encephalopathy characterized by epileptic spasms, a specific pattern on electroencephalography of hypsarrhythmia, and developmental regression. Our aim was to assess white matter abnormalities in West syndrome of unknown etiology. We hypothesized that diffusion tensor imaging reveals white matter abnormalities, especially in patients with poo...