PERVASIVE NEUROANATOMICAL ABNORMALITIES OF THE BRAIN IN 3 CASES OF RETTS-SYNDROME

Rett's syndrome (RS) is a clinically defined disorder that appears to be unique to girls and is characterized by apparent cognitive and moto r skill loss early in life. We report our findings in the brains of th ree girls with RS, which were studied in comparison with age-matched c ontrols by means of gapless serial section. Reduced neuronal cell size and increased cell-packing density were present throughout the cortic al and subcortical regions of the brain in all cases without evidence of active degeneration. These observations appear to be consistent wit h a curtailment of development. Further, the degree of abnormality in each case correlates more closely with the clinical presentation of th e patient at the time of death than with the age of the patient or dur ation of symptoms.