All issues > Volume 36(5); 1993

Case Report

J Korean Pediatr Soc. 1993;36(5):743-747. Published online May 15, 1993.

A Case of Rett Syndrome

Kim Hye KH Soon¹, Lee L Keun¹

¹Department of Pediatrics, College of Medicine, Ewah Womans University, Seoul, Korea

Abstract

Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These gils are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6 months and 2 years. The full syndrome compriseslaquired microcephaly, severe dementia, autism, loss of purposeul use of the hands, characteristic hand-wringing sterotypes, jerky ataxia of the trunk epilepsy with various types of fits, and in later years spastic and trophic changes of the lower limbs. There is no known cytogenetic, biochemical or molecular marker for the disorder;the diagnosis in based on clinical criteria. We report a case of Rett syndrome with a brie review of related literatures.

Keywords :Rett syndrome