Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in
10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor
handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene
(MECP2). The role of this gene in the pathogenesis of this enigmatic disorder is being
extensively investigated in animal models. Rett syndrome is associated with a complex
phenotype that is unique in every aspect of its presentation, clinical physiology, chemistry …

Rett syndrome is a neurodevelopmental disorder that in most cases is consequent to a
mutation in the MECP2 gene. The central nervous system is the primary organ system
involved in Rett syndrome. Neurophysiologic evaluations provide information concerning
the developmental aspects of Rett syndrome and the character and extent of involvement of
the central, peripheral, and autonomic nervous system pathways. Evoked potentials typically
demonstrate intactness of peripheral auditory and visual pathways and suggest dysfunction …

The neuropathology of the Rett syndrome is summarized utilizing a format of clinical
pathological correlations, describing the pathology at specific anatomic sites which could
correlate with the well defined clinical signs and symptoms in the Rett syndrome; decreased
head and body size, autism, gait dysfunction, spasticity, movement and breathing disorder.
Published reports of altered morphology in the cerebral cortex, basal ganglia, substantia
nigra, cerebellum, spinal cord, muscle, nerve, pituitary gland and somatic organs are …