EEG in Epilepsy Series: Rett Syndrome
- Roya Tompkins
- 2 minutes ago
- 1 min read
This rare, genetic neurological syndrome that primarily effects girls causes a progressive loss of motor skills, developmental delays, breathing difficulties and seizures.
During the first six months of life these patients develop normally.
They then start to lose what skills they have developed.
Brain growth starts to become effected with the most changes occurring between 12-18 months of age.
These patients will have microcephaly with the smaller than usual head size being one of the first signs that a patient may have Rett’s Syndrome.
Other first signs include loss of hand control initially making crawling difficult. They often have unusual hand movements with muscles becoming stiff and hand-flapping. These patients can also have unusual eye movements as well.
Most patients with Rett’s Syndrome also will have seizures bringing them to our EEG labs for seizure management typically after the age of 2.
What might we expect on the EEG?
Multiple seizure types with both generalized and focal abnormalities
Slowing of the background
Central spikes are typically seen
Increased discharges in sleep
Patient’s with Rett syndrome can have a broad range of severity in their symptoms.
Although there is no cure, research involves targeting the genetic cause: mutations in the MECP2 gene.
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Roya Tompkins, MS, REEG/EP T, RPSGT, CLTM
Resources:
Mayo Clinic
National Institute of Health
Medlink Neurology