shwaehman syndrome, next to cystic fibrosis, is the second cause of congenita! exocrine pancreatic insufficiency in children. it appears as steatorrhea, recurrent infections and hematologic abnormalities such as neutropenia, skeletal dysplasia and short stature. in this study, we reviewed 3 patients' histories. all of them showed cellular chemotaxic defect. one of them had been affected by neph...

tuberous sclerosis) (11–13). Therefore, most recently the treatment of WS with valproate has been overtaken and overlooked (14, 15). Overall, the treatment strategies in WS [either the first-line treatments (e.g., ACTH and vigabatrin) or the more classical nongolden treatments (e.g., valproate or other newer anticonvulsants)] are based on the assumption that an early initiation of therapy coupl...

Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare, life-threatening cutaneous severe adverse reactions (SCAR) most frequently induced by a drug hypersensitivity. The clinical manifestations seem to be related either to a particular group of drugs, such as antibacterial sulfonamides, anticonvulsant agents, allopurinol, non-steroidal anti-inflammatory drugs (NSAIDs), am...

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests th...

Introduction: cerebral vein thrombosis is a rare complication of nephrotic syndrome (NS).We report a known case of NS with hemorrhagic thrombosis. Case report: A boy with previous history of NS was admitted with headache and decrease of level of consciousness and his brain images were revealed hemorrhagic thrombosis Conclusions: cerebral vein thrombosis must be considered in patients with...