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-7-48-b 10.15844/pedneurbriefs-7-6-11 Metabolic and Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Rett Syndrome: A Mitochondrial Dysfunction? 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 06 1993 01 07 2016 7 6 48 48 Copyright: © 1993 The Author(s) 1993 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. Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study

Ultrastructural and biochemical alterations of muscle mitochondria are reported in two girls, aged 4 years, with Rett syndrome examined at the Institute of Neurological Sciences, University of Siena, Italy.

 Biochemical Alterations Cytochrome C Oxidase Dumb-Bell-Shaped

Ultrastructural and biochemical alterations of muscle mitochondria are reported in two girls, aged 4 years, with Rett syndrome examined at the Institute of Neurological Sciences, University of Siena, Italy. Mitochondria were abnormally swollen and dumb-bell-shaped, and cytochrome c oxidase and NADH cytochrome c reductase were decreased in activity. The primary or secondary role of this mitochondrial pathology in the pathogenesis of the syndrome is undetermined. [1]

COMMENT. In contrast to the above, phosphorus magnetic resonance spectroscopy, proton MRS, muscle biopsies, and determination of pyruvate and lactate in plasma of 5 girls with Rett syndrome, examined at the John F Kennedy Institute, Glostrup, Denmark, failed to detect evidence for a mitochondrial disorder. [2]

 Dotti MT Manneschi L Malandrini A De Stefano N Caznerale F Federico A Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study Brain Dev 1993 Mar-Apr 15 2 103 6 8214327 10.1016/0387-7604(93)90045-A Nielsen JB Toft PB Reske-Nielsen E Jensen KE Christiansen P Thomsen C Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder Brain Dev 1993 Mar-Apr 15 2 107 12 8214328 10.1016/0387-7604(93)90046-B