Abstract
Rett syndrome (RS) is a clinically defined disorder which appears to be unique to females
and which is associated with apparent loss of cognitive and motor skills early in
life. Using the technique of gapless serial section, microscopic analysis of the brains
from three cases of RS and identically processed age-matched controls was conducted
to determine the nature and extent of cerebral abnormality in this disorder. Small
neuronal cell size and increased cell packing density were observed throughout the
brain in all three cases, without evidence of gliosis or active degeneration. These
findings are consistent with a curtailment of brain development which may begin before
birth. Further, the brain abnormalities in RS appear to be more diffuse than previously
appreciated and are in accord with the widespread neurological symptoms characteristic
of this disorder.
Key words
Rett syndrome - Neuropathology - Brain development
