Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of individuals affected do not walk. Scoliosis, growth failure, and constipation are very common and can be problematic.
The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism. Is yet another type of pervasive development disorders with unknown cause.
- Found only in girls.
- Normal development up to 5 months to 1 year of age.
- Gradual decrease in head size.
- Loss or regression of acquired motor skills and speech skills.
- Episodes of hyper ventilation.
- Abnormal EEG.