J Korean Pediatr Soc.
1993 May;36(5):743-747.
A case of Rett syndrome
Abstract
- Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These girls are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6 months and 2 1/2 years. The full syndrome comprises; aquired microcephaly, severe dementia, autism, loss of purposeful use of the hands, characteristic hand-wringing stereotypies, 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 is based on clinical criteria. We report a case of Rett syndrome with a brief review of related literatues.
