Peripheral Nerve Findings in Rett Syndrome
- 1 January 1988
- journal article
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 3 (1_suppl), S25-S30
- https://doi.org/10.1177/0883073888003001s06
Abstract
Sural nerve and peroneus brevis muscle biopsies were studied in 12 patients with Rett syndrome, ten with the typical form of the disorder according to 1985 criteria, and two with atypical features. Ages ranged from 23 months to 25 years. All stages of the disease were represented. There was evidence of a mild axonal neuropathy in seven of 12 patients. Degenerative and occasional regenerative changes were seen in five sural nerve biopsies, including one from the youngest patient in the series, who was normally nourished and fully ambulatory. Occasional nonspecific ultrastructural abnormalities were present, including accumulation of pi granules in Schwann cells and Hirano bodies within axons. However, morphometric analysis of the four nerves in which these alterations were most prominent showed a normal density and size distribution of myelinated fibers. Enzyme histochemistry of the peroneus brevis biopsies demonstrated abnormal predominance of type II muscle fibers in three of the 12 biopsies and atrophy of type I fibers in one patient. (J Child Neurol 1988;3(Suppl):S25-S30).Keywords
This publication has 9 references indexed in Scilit:
- Brain stem and spinal cord impairment in rett syndrome: somatosensory and auditory evoked responses investigationsBrain & Development, 1987
- Distal deletion of the long arm of chromosome 6: A specific phenotype ?American Journal of Medical Genetics, 1986
- Reduction of Biogenic Amine Levels in the Rett SyndromeNew England Journal of Medicine, 1985
- Rett syndrome: Criteria for inclusion and exclusionBrain & Development, 1985
- QUALITATIVE AND QUANTITATIVE MORPHOLOGY OF HUMAN SURAL NERVE AT DIFFERENT AGESBrain, 1985
- A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 casesAnnals of Neurology, 1983
- Physical growth: National Center for Health Statistics percentilesThe American Journal of Clinical Nutrition, 1979
- Computerized image recognition for morphometry of nerve attribute of shape of sampled transverse sections of myelinated fibers which best estimates their average diameterJournal of the Neurological Sciences, 1977
- Diabetische NeuropathieDeutsche Medizinische Wochenschrift (1946), 1968