MICROSCOPIC OBSERVATIONS OF THE BRAIN IN RETT-SYNDROME

Rett syndrome (RS) is a clinically defined disorder which appears to b e unique to females and which is associated with apparent loss of cogn itive and motor skills early in life. Using the technique of gapless s erial section, microscopic analysis of the brains from three cases of RS and identically processed age-matched controls was conducted to det ermine the nature and extent of cerebral abnormality in this disorder. Small neuronal cell size and increased cell packing density were obse rved throughout the brain in all three cases, without evidence of glio sis or active degeneration. These findings are consistent with a curta ilment of brain development which may begin before birth. Further, the brain abnormalities in RS appear to be more diffuse than previously a ppreciated and are in accord with the widespread neurological symptoms characteristic of this disorder.