Background: This article explores the role of initial treatment on control of spasms and other epilepsies at four years in children previously treated for West syndrome.
Methods: The Sri Lanka Infantile Spasm Study is a prospective clinical trial evaluating response to intra-muscular adrenocorticotropic hormone (ACTH) versus oral prednisolone. A previous report documented response through age 12 months.
Background: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith-Lemli-Opitz syndrome presenting with acute adrenal crisis, which is an extremely rare and atypical presentation of this disease.
Case Presentation: A 3-year-old Sri Lankan Sinhalese boy without evidence of infection presented with circulatory collapse.