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Elevated CSF beta-endorphin immunoreactivity in Rett's syndrome

Report of 158 cases and comparison with leukemic children

Departments of Child Neurology (Dr. Myer) and Pharmacology (Drs. Tripathi, Brase, and Dewey), Medical College of Virginia/Virginia Commonwealth University, Richmond, VA.

Because some symptoms of Rett's syndrome are suggestive of excessive endogenous opioid activity, we measured the levels of beta-endorphin-like immunoreactivity in lumbar CSF from 158 affected female patients and from 13 female controls. The mean (±SE) control level of beta-endorphin immunoreactivity in CSF was 35.3 ± 2.8 pg/ml (range, 23 to 48 pg/ml), whereas those with Rett's syndrome had a mean level of 95.3 ± 3.6 pg/ml (range, 31 to 293 pg/ml). The levels of beta-endorphin immunoreactivity in initial CSF samples exceeded the control range in 90% of the patients with Rett's syndrome. The mean beta-endorphin immunoreactivity was also elevated in CSF from leukemic children (119.2 ± 16.9 pg/ml; range, 40 to 159 pg/ml), relative to the control group. These results are consistent with the hypothesis that some symptoms of Rett's syndrome may be associated with excessive endogenous opioid levels in the CNS.

Address correspondence and reprint requests to Dr. E.C. Myer, Department of Child Neurology, Medical College of Virginia/Virginia Commonwealth University, Box 211 Health Sciences Station, Richmond, VA 23298–0211.

Supported in part by USPHS grants DA-01647 and T32 DA-07027, and by the Commonwealth of Virginia Center Grant for Drug Abuse Research.

Received March 20, 1990. Accepted for publication in final form July 15, 1991.

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