Rett Syndrome - Mortality

Mortality

Males with pathogenic MECP2 mutations usually die within the first 2 years from severe encephalopathy, unless they have an extra X chromosome (often described as Klinefelter syndrome), or have somatic mosaicism.

Females can live up to 40 years or more. Laboratory studies on Rett syndrome may show abnormalities such as:

• EEG abnormalities from 2 years of age
• atypical brain glycolipids
• elevated CSF levels of beta-endorphins and glutamate
• reduction of substance P
• decreased levels of CSF nerve growth factors

A high proportion of deaths are abrupt, but most have no identifiable cause; in some instances death is the result most likely of:

• spontaneous brainstem dysfunction
• cardiac arrest
• seizures
• cardiac conduction abnormalities - abnormally prolonged QT interval on ECG
• gastric perforation