Abstract
Rett syndrome is associated with profound mental retardation and motor disability
in girls. It has a characteristic clinical phenotype which includes abnormalities
of the autonomic nervous system. Feeding impairment and severe constipation are two
symptoms of this autonomic dysfunction. Substance P, an important peptide in the autonomic
nervous system, is decreased in the cerebrospinal fluid of Rett syndrome. We have
demonstrated that substance P immunoreactivity is significantly decreased in Rett
syndrome brain-stem and may be related to the autonomic dysfunction. In this study,
we have continued the investigation of substance P in the enteric nervous system.
We immunohistochemically examined the normal developing bowel in 22 controls (ages,
14 gestational weeks to 31 years) using formalin fixed tissue, with antibodies to
substance P, tyrosine hydroxylase and vasoactive intestinal peptide. We compared the
immunoreactivity of normal controls with 14 cases of Rett syndrome (ages, 5–41 years)
and observed that the expression of substance P, tyrosine hydroxylase and vasoactive
intestinal peptide immunoreactivity in the bowel in Rett syndrome was not significantly
different from that of controls. This suggests that the feeding impairment and constipation
in Rett syndrome relate to dysfunction of the autonomic nervous system originating
outside of the bowel, in the brain-stem, as suggested by our previous study.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
