Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.

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.