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-3-69-a 10.15844/pedneurbriefs-3-9-8 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Mitochondrial Alterations in Rett Syndrome 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 09 1989 01 08 2016 3 9 69 69 Copyright: © 1989 The Author(s) 1989 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 alterations in Rett syndrome

Muscle biopsy findings in two patients with Rett syndrome are reported from the Departments of Obstetrics/Gynecology, Pediatrics, and Pathology, Medical College of Ohio, Toledo, OH.

 Muscle Biopsy Microscopy Mitochondrial

Muscle biopsy findings in two patients with Rett syndrome are reported from the Departments of Obstetrics/Gynecology, Pediatrics, and Pathology, Medical College of Ohio, Toledo, OH. Muscle biopsy was performed at 32 months of age and at 3 years 7 months of age. Light microscopy revealed fibers of uniform size with normal histochemistry. Electron microscopy revealed mitochondrial alterations including distention, vacuolation, and membranous changes. [1]

COMMENT. Abnormal mitochondria have been reported previously in the muscle biopsies of two patients with Rett syndrome [2]. The findings presented in patients with Rett syndrome did not correspond to the typical “ragged red” fibers found in mitochondrial myopathies. There are no biochemical or pathological findings specific to Rett syndrome but further studies of mitochondrial functioning in muscle may be warranted.

 Ruch A Kurczynski TW Velasco ME Mitochondrial alterations in Rett syndrome Pediatr Neurol 1989 Sep-Oct 5 5 320 323 10.1016/0887-8994(89)90027-1 2803392 Eeg-Olofsson O al-Zuhair AG Teebi AS al-Essa MM Abnormal mitochondria in the Rett syndrome Brain Dev 1988 10 4 260 262 10.1016/S0387-7604(88)80010-X 3218707