What EEG findings are characteristic of Rett syndrome?

Updated: Oct 09, 2019
  • Author: Eli S Neiman, DO, FACN; Chief Editor: Selim R Benbadis, MD  more...
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Answer

Rett syndrome is a slowly progressive encephalopathy that occurs only in girls and is characterized by early deterioration of higher brain function with dementia, autistic behavior, loss of purposeful use of the hands, and deceleration of head growth. Al-Mateen et al reported 15 cases of Rett syndrome. [41] When affected girls are aged 2-4 years, epilepsy may develop with minor motor seizures. Additional features may include an extrapyramidal disorder with dystonia and choreoathetosis and lactic acidemia. A precise biochemical marker of this disorder has not been identified.

According to McIntosh et al, Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young girls who have appeared clinically normal until age 6-18 months. [42] The incidence is similar to that of phenylketonuria and autism in females. When the child is at least 6 months old, head growth decelerates in association with severe dementia, autism, apraxia, stereotypic handwashing movements, and loss of previously acquired skills. Other signs include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. It appears to be sporadic in occurrence.

The EEG may demonstrate slowing, a variety of nonspecific patterns, and epileptiform discharges. The epileptic activity may include multifocal spikes, slow-wave spikes, and paroxysmal delta slowing with spikes that may appear in sleep; in certain cases, however, sleep may attenuate the EEG abnormalities. Background flattening occurs to some degree, corresponding with the stage of dementia and cognitive decline. Rolandic spikes may be elicited by noise.


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