1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-8-37 10.15844/pedneurbriefs-8-5-7 Rett Syndrome (RS) Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Acyl-CoA Dehydrogenase Deficiency and RS http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 05 1994 01 06 2016 8 5 37 37 Copyright: © 1994 The Author(s) 1994 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency

A female infant with medium-chain acyl-CoA dehyrogenase (MCAD) deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

 Medium-Chain Acyl-CoA Dehyrogenase Hypotonia Bilateral Spikes

A female infant with medium-chain acyl-CoA dehyrogenase (MCAD) deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands. At 13 months her development was normal. By 20 months she could not walk, her language development had ceased, and tremor with loss of purposeful hand movements was noted. At 30 months she had hypotonia, increased tremor and “handwashing” movements. At 3 years she was mentally retarded with autistic features, and the EEG showed bilateral spikes and spike wave activity and a slow waking background rhythm. The head circumference was at the 98th percentile from birth to 17 months and 50th percentile at 52 months. Four additional Rett syndrome patients had normal lymphocyte MCAD assays. [1]

COMMENT. The authors found no reason to propose a causal relationship between MCAD deficiency and Rett syndrome.

A controlled study of an oral opiate antagonist, Naltrexone, in 25 patients with Rett syndrome at the University of Alabama, Birmingham, AL, and other centers, showed a beneficial effect on respiratory irregularities and improved oxygenation but negative effects on development measured by Bayley scales [2]. The hypothesis that naltrexone may be beneficial in Rett syndrome followed from reports of elevated levels of B-endorphins in the CSF of Rett syndrome patients. Further, the intraventicular administration of endorphins in animals produces naloxone-reversible signs similar to those of Rett syndrome.

 Beekman RP Hofstee N Smeitink JA Poll-The BT Duran M Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency Eur J Pediatr 1994 Apr 153 4 264 6 8194560 10.1007/BF01954516 Percy AK Glaze DG Schultz RJ Zoghbi HY Williamson D Frost JD Jr Rett syndrome: controlled study of an oral opiate antagonist, naltrexone Ann Neurol 1994 Apr 35 4 464 70 8154874 10.1002/ana.410350415