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-4-91-a 10.15844/pedneurbriefs-4-12-4 Metabolic and Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Sural Nerve Axonopathy and 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 12 1990 01 08 2016 4 12 91 91 Copyright: © 1990 The Author(s) 1990 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: findings suggesting axonopathy and mitochondrial abnormalities

The histopathologic findings of three sural nerve biopsies and one muscle biopsy from three patients with Rett syndrome are described from the Department of Pediatrics, National Sanatorium Yakumo Hospital, Yakumo, Hokkaido, Japan.

 Sural Nerve Biopsies Cytoplasm of Schwann Cells Large Myelinated Fibers

The histopathologic findings of three sural nerve biopsies and one muscle biopsy from three patients with Rett syndrome are described from the Department of Pediatrics, National Sanatorium Yakumo Hospital, Yakumo, Hokkaido, Japan. The biopsies demonstrated mitochondrial changes in the cytoplasm of Schwann cells, occasional onion bulb formations, and mitochondrial alterations in myelinated axons with reduction in the number of large myelinated fibers. The muscle showed small dark angulated fibers with NADH-TR staining and dumbbel 1-shaped mitochondria. [1]

COMMENT. These findings suggest peripheral nerve involvement and mitochondrial abnormalities in Rett syndrome. An additional article describes cerebellar pathology at autopsy of five patients with Rett syndrome [2]. Patients ranged in age from 7 to 30 years. All had reduced brain weights with small cerebella. There was loss of Purkinje cells, atrophy, astrocytic gliosis of molecular and granular cell layers, and gliosis and loss of myelin in the white matter. The cerebellar atrophy was greater in two patients treated with phenytoin. The pathology of Rett syndrome appears to involve the cerebellum, cerebral hemispheres, basal ganglia, especially substantia nigra, spinal cord, peripheral nerve, and muscle.

 Wakai S Kameda K Ishikawa Y Miyamoto S Nagaoka M Okabe M Rett syndrome: findings suggesting axonopathy and mitochondrial abnormalities Pediatr Neurol 1990 Sep-Oct 6 5 339 43 10.1016/0887-8994(90)90028-Y 2242177 Oldfors A Sourander P Armstrong DL Percy AK Witt-Engerström I Hagberg BA Rett syndrome: cerebellar pathology Pediatr Neurol 1990 Sep-Oct 6 5 310 4 10.1016/0887-8994(90)90022-S 2242172