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Peripheral nerve findings in Rett syndrome
Journal of Child Neurology
|January 1, 1988
Summary
Rett syndrome can cause mild axonal neuropathy and muscle changes, affecting nerve fibers and muscle fiber types. These findings highlight potential peripheral nervous system involvement in Rett syndrome patients.
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
- Peripheral nervous system involvement in Rett syndrome is not well understood.
Purpose of the Study:
- To investigate the presence and nature of peripheral neuropathy in Rett syndrome.
- To examine sural nerve and peroneus brevis muscle biopsies in patients with typical and atypical Rett syndrome.
Main Methods:
- Biopsy analysis of sural nerves and peroneus brevis muscles from 12 Rett syndrome patients.
- Morphometric analysis of myelinated fibers and enzyme histochemistry of muscle biopsies.
Main Results:
- Mild axonal neuropathy was found in 7 of 12 patients.
- Degenerative and regenerative changes were observed in sural nerves.
- Abnormal muscle fiber type predominance (type II) and atrophy (type I) were noted.
Conclusions:
- Peripheral nerve and muscle abnormalities may contribute to the clinical presentation of Rett syndrome.
- Further research is needed to understand the full spectrum of neurological involvement.