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
Read more about this topic: Rett Syndrome
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