Two cases of girls seen in Sarawak with the diagnosis of Rett Syndrome are reported. Their ages were 6 and 2 years respectively at the time of the report. Diagnosis is made clinically as there is as yet no scientific marker. Specific diagnostic criteria were met. There was a history of slowing of development followed by loss of previously acquired skills, changes in emotional development and behaviour and the definite emergency of stereotyped behaviour especially hand wringing in both girls. Onset was early in both girls, around nine months. Both girls are profoundly retarded mentally but the regression appeared to be static at present.
Rett syndrome (RS) is a severe neurodevelopmental disorder characterised by normal neurological development followed by progressive developmental regression. The X-linked dominant inheritance of RS has been mapped to the gene that encodes the methyl-CpG-binding protein-2 (MECP2) at Xq28. In the present study, denaturing high-performance liquid chromatography (DHPLC) was used to detect mutations in the MECP2 gene in 20 Malaysian RS patients.